louise izatt publication list 1998- 2017 - guy's and st … r, steele l, ding yc, neuhausen sl,...

Louise Izatt Publication list 1998-2017

1: Lecarpentier J, Silvestri V, Kuchenbaecker KB, Barrowdale D, Dennis J,

McGuffog L, Soucy P, Leslie G, Rizzolo P, Navazio AS, Valentini V, Zelli V, Lee

A, Amin Al Olama A, Tyrer JP, Southey M, John EM, Conner TA, Goldgar DE, Buys SS,

Janavicius R, Steele L, Ding YC, Neuhausen SL, Hansen TVO, Osorio A, Weitzel JN,

Toss A, Medici V, Cortesi L, Zanna I, Palli D, Radice P, Manoukian S, Peissel B,

Azzollini J, Viel A, Cini G, Damante G, Tommasi S, Peterlongo P, Fostira F,

Hamann U, Evans DG, Henderson A, Brewer C, Eccles D, Cook J, Ong KR, Walker L,

Side LE, Porteous ME, Davidson R, Hodgson S, Frost D, Adlard J, Izatt L, Eeles R,

Ellis S, Tischkowitz M; EMBRACE., Godwin AK, Meindl A, Gehrig A, Dworniczak B,

Sutter C, Engel C, Niederacher D, Steinemann D, Hahnen E, Hauke J, Rhiem K, Kast

K, Arnold N, Ditsch N, Wang-Gohrke S, Wappenschmidt B, Wand D, Lasset C,

Stoppa-Lyonnet D, Belotti M, Damiola F, Barjhoux L, Mazoyer S; GEMO Study

Collaborators., Van Heetvelde M, Poppe B, De Leeneer K, Claes KBM, de la Hoya M,

Garcia-Barberan V, Caldes T, Perez Segura P, Kiiski JI, Aittomäki K, Khan S,

Nevanlinna H, van Asperen CJ; HEBON., Vaszko T, Kasler M, Olah E, Balmaña J,

Gutiérrez-Enríquez S, Diez O, Teulé A, Izquierdo A, Darder E, Brunet J, Del Valle

J, Feliubadalo L, Pujana MA, Lazaro C, Arason A, Agnarsson BA, Johannsson OT,

Barkardottir RB, Alducci E, Tognazzo S, Montagna M, Teixeira MR, Pinto P, Spurdle

AB, Holland H; KConFab Investigators., Lee JW, Lee MH, Lee J, Kim SW, Kang E, Kim

Z, Sharma P, Rebbeck TR, Vijai J, Robson M, Lincoln A, Musinsky J, Gaddam P, Tan

YY, Berger A, Singer CF, Loud JT, Greene MH, Mulligan AM, Glendon G, Andrulis IL,

Toland AE, Senter L, Bojesen A, Nielsen HR, Skytte AB, Sunde L, Jensen UB,

Pedersen IS, Krogh L, Kruse TA, Caligo MA, Yoon SY, Teo SH, von Wachenfeldt A,

Huo D, Nielsen SM, Olopade OI, Nathanson KL, Domchek SM, Lorenchick C, Jankowitz

RC, Campbell I, James P, Mitchell G, Orr N, Park SK, Thomassen M, Offit K, Couch

FJ, Simard J, Easton DF, Chenevix-Trench G, Schmutzler RK, Antoniou AC, Ottini L.

Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation

Carriers Using Polygenic Risk Scores. J Clin Oncol. 2017 Apr 27:JCO2016694935.

doi: 10.1200/JCO.2016.69.4935. [Epub ahead of print] PubMed PMID: 28448241.

2: Phelan CM, Kuchenbaecker KB, Tyrer JP, Kar SP, Lawrenson K, Winham SJ, Dennis

J, Pirie A, Riggan MJ, Chornokur G, Earp MA, Lyra PC Jr, Lee JM, Coetzee S,

Beesley J, McGuffog L, Soucy P, Dicks E, Lee A, Barrowdale D, Lecarpentier J,

Leslie G, Aalfs CM, Aben KKH, Adams M, Adlard J, Andrulis IL, Anton-Culver H,

Antonenkova N; AOCS study group., Aravantinos G, Arnold N, Arun BK, Arver B,

Azzollini J, Balmaña J, Banerjee SN, Barjhoux L, Barkardottir RB, Bean Y,

Beckmann MW, Beeghly-Fadiel A, Benitez J, Bermisheva M, Bernardini MQ, Birrer MJ,

Bjorge L, Black A, Blankstein K, Blok MJ, Bodelon C, Bogdanova N, Bojesen A,

Bonanni B, Borg Å, Bradbury AR, Brenton JD, Brewer C, Brinton L, Broberg P,

Brooks-Wilson A, Bruinsma F, Brunet J, Buecher B, Butzow R, Buys SS, Caldes T,

Caligo MA, Campbell I, Cannioto R, Carney ME, Cescon T, Chan SB, Chang-Claude J,

Chanock S, Chen XQ, Chiew YE, Chiquette J, Chung WK, Claes KBM, Conner T, Cook

LS, Cook J, Cramer DW, Cunningham JM, D'Aloisio AA, Daly MB, Damiola F, Damirovna

SD, Dansonka-Mieszkowska A, Dao F, Davidson R, DeFazio A, Delnatte C, Doheny KF,

Diez O, Ding YC, Doherty JA, Domchek SM, Dorfling CM, Dörk T, Dossus L, Duran M,

Dürst M, Dworniczak B, Eccles D, Edwards T, Eeles R, Eilber U, Ejlertsen B, Ekici

AB, Ellis S, Elvira M; EMBRACE Study., Eng KH, Engel C, Evans DG, Fasching PA,

Ferguson S, Ferrer SF, Flanagan JM, Fogarty ZC, Fortner RT, Fostira F, Foulkes

WD, Fountzilas G, Fridley BL, Friebel TM, Friedman E, Frost D, Ganz PA, Garber J,

García MJ, Garcia-Barberan V, Gehrig A; GEMO Study Collaborators., Gentry-Maharaj

A, Gerdes AM, Giles GG, Glasspool R, Glendon G, Godwin AK, Goldgar DE, Goranova

T, Gore M, Greene MH, Gronwald J, Gruber S, Hahnen E, Haiman CA, Håkansson N,

Hamann U, Hansen TVO, Harrington PA, Harris HR, Hauke J; HEBON Study., Hein A,

Henderson A, Hildebrandt MAT, Hillemanns P, Hodgson S, Høgdall CK, Høgdall E,

Hogervorst FBL, Holland H, Hooning MJ, Hosking K, Huang RY, Hulick PJ, Hung J,

Hunter DJ, Huntsman DG, Huzarski T, Imyanitov EN, Isaacs C, Iversen ES, Izatt L,

Izquierdo A, Jakubowska A, James P, Janavicius R, Jernetz M, Jensen A, Jensen UB,

John EM, Johnatty S, Jones ME, Kannisto P, Karlan BY, Karnezis A, Kast K; KConFab

Investigators., Kennedy CJ, Khusnutdinova E, Kiemeney LA, Kiiski JI, Kim SW,

Kjaer SK, Köbel M, Kopperud RK, Kruse TA, Kupryjanczyk J, Kwong A, Laitman Y,

Lambrechts D, Larrañaga N, Larson MC, Lazaro C, Le ND, Le Marchand L, Lee JW,

Lele SB, Leminen A, Leroux D, Lester J, Lesueur F, Levine DA, Liang D, Liebrich

C, Lilyquist J, Lipworth L, Lissowska J, Lu KH, Lubinński J, Luccarini C,

Lundvall L, Mai PL, Mendoza-Fandiño G, Manoukian S, Massuger LFAG, May T, Mazoyer

S, McAlpine JN, McGuire V, McLaughlin JR, McNeish I, Meijers-Heijboer H, Meindl

A, Menon U, Mensenkamp AR, Merritt MA, Milne RL, Mitchell G, Modugno F,

Moes-Sosnowska J, Moffitt M, Montagna M, Moysich KB, Mulligan AM, Musinsky J,

Nathanson KL, Nedergaard L, Ness RB, Neuhausen SL, Nevanlinna H, Niederacher D,

Nussbaum RL, Odunsi K, Olah E, Olopade OI, Olsson H, Olswold C, O'Malley DM, Ong

KR, Onland-Moret NC; OPAL study group., Orr N, Orsulic S, Osorio A, Palli D, Papi

L, Park-Simon TW, Paul J, Pearce CL, Pedersen IS, Peeters PHM, Peissel B, Peixoto

A, Pejovic T, Pelttari LM, Permuth JB, Peterlongo P, Pezzani L, Pfeiler G,

Phillips KA, Piedmonte M, Pike MC, Piskorz AM, Poblete SR, Pocza T, Poole EM,

Poppe B, Porteous ME, Prieur F, Prokofyeva D, Pugh E, Pujana MA, Pujol P, Radice

P, Rantala J, Rappaport-Fuerhauser C, Rennert G, Rhiem K, Rice P, Richardson A,

Robson M, Rodriguez GC, Rodríguez-Antona C, Romm J, Rookus MA, Rossing MA,

Rothstein JH, Rudolph A, Runnebaum IB, Salvesen HB, Sandler DP, Schoemaker MJ,

Senter L, Setiawan VW, Severi G, Sharma P, Shelford T, Siddiqui N, Side LE, Sieh

W, Singer CF, Sobol H, Song H, Southey MC, Spurdle AB, Stadler Z, Steinemann D,

Stoppa-Lyonnet D, Sucheston-Campbell LE, Sukiennicki G, Sutphen R, Sutter C,

Swerdlow AJ, Szabo CI, Szafron L, Tan YY, Taylor JA, Tea MK, Teixeira MR, Teo SH,

Terry KL, Thompson PJ, Thomsen LCV, Thull DL, Tihomirova L, Tinker AV,

Tischkowitz M, Tognazzo S, Toland AE, Tone A, Trabert B, Travis RC, Trichopoulou

A, Tung N, Tworoger SS, van Altena AM, Van Den Berg D, van der Hout AH, van der

Luijt RB, Van Heetvelde M, Van Nieuwenhuysen E, van Rensburg EJ, Vanderstichele

A, Varon-Mateeva R, Vega A, Edwards DV, Vergote I, Vierkant RA, Vijai J, Vratimos

A, Walker L, Walsh C, Wand D, Wang-Gohrke S, Wappenschmidt B, Webb PM, Weinberg

CR, Weitzel JN, Wentzensen N, Whittemore AS, Wijnen JT, Wilkens LR, Wolk A, Woo

M, Wu X, Wu AH, Yang H, Yannoukakos D, Ziogas A, Zorn KK, Narod SA, Easton DF,

Amos CI, Schildkraut JM, Ramus SJ, Ottini L, Goodman MT, Park SK, Kelemen LE,

Risch HA, Thomassen M, Offit K, Simard J, Schmutzler RK, Hazelett D, Monteiro AN,

Couch FJ, Berchuck A, Chenevix-Trench G, Goode EL, Sellers TA, Gayther SA,

Antoniou AC, Pharoah PDP. Identification of 12 new susceptibility loci for

different histotypes of epithelial ovarian cancer. Nat Genet. 2017

May;49(5):680-691. doi: 10.1038/ng.3826. Epub 2017 Mar 27. PubMed PMID: 28346442.

3: Saya S, Killick E, Thomas S, Taylor N, Bancroft EK, Rothwell J, Benafif S,

Dias A, Mikropoulos C, Pope J, Chamberlain A, Gunapala R; SIGNIFY Study Steering

Committee., Izatt L, Side L, Walker L, Tomkins S, Cook J, Barwell J, Wiles V,

Limb L, Eccles D, Leach MO, Shanley S, Gilbert FJ, Hanson H, Gallagher D,

Rajashanker B, Whitehouse RW, Koh DM, Sohaib SA, Evans DG, Eeles RA. Baseline

results from the UK SIGNIFY study: a whole-body MRI screening study in TP53

mutation carriers and matched controls. Fam Cancer. 2017 Jan 16. doi:

10.1007/s10689-017-9965-1. [Epub ahead of print] PubMed PMID: 28091804.

4: Hamdi Y, Soucy P, Kuchenbaeker KB, Pastinen T, Droit A, Lemaçon A, Adlard J,

Aittomäki K, Andrulis IL, Arason A, Arnold N, Arun BK, Azzollini J, Bane A,

Barjhoux L, Barrowdale D, Benitez J, Berthet P, Blok MJ, Bobolis K, Bonadona V,

Bonanni B, Bradbury AR, Brewer C, Buecher B, Buys SS, Caligo MA, Chiquette J,

Chung WK, Claes KB, Daly MB, Damiola F, Davidson R, De la Hoya M, De Leeneer K,

Diez O, Ding YC, Dolcetti R, Domchek SM, Dorfling CM, Eccles D, Eeles R, Einbeigi

Z, Ejlertsen B; EMBRACE., Engel C, Gareth Evans D, Feliubadalo L, Foretova L,

Fostira F, Foulkes WD, Fountzilas G, Friedman E, Frost D, Ganschow P, Ganz PA,

Garber J, Gayther SA; GEMO Study Collaborators., Gerdes AM, Glendon G, Godwin AK,

Goldgar DE, Greene MH, Gronwald J, Hahnen E, Hamann U, Hansen TV, Hart S, Hays

JL; HEBON., Hogervorst FB, Hulick PJ, Imyanitov EN, Isaacs C, Izatt L, Jakubowska

A, James P, Janavicius R, Jensen UB, John EM, Joseph V, Just W, Kaczmarek K,

Karlan BY; KConFab Investigators., Kets CM, Kirk J, Kriege M, Laitman Y, Laurent

M, Lazaro C, Leslie G, Lester J, Lesueur F, Liljegren A, Loman N, Loud JT,

Manoukian S, Mariani M, Mazoyer S, McGuffog L, Meijers-Heijboer HE, Meindl A,

Miller A, Montagna M, Mulligan AM, Nathanson KL, Neuhausen SL, Nevanlinna H,

Nussbaum RL, Olah E, Olopade OI, Ong KR, Oosterwijk JC, Osorio A, Papi L, Park

SK, Pedersen IS, Peissel B, Segura PP, Peterlongo P, Phelan CM, Radice P, Rantala

J, Rappaport-Fuerhauser C, Rennert G, Richardson A, Robson M, Rodriguez GC,

Rookus MA, Schmutzler RK, Sevenet N, Shah PD, Singer CF, Slavin TP, Snape K,

Sokolowska J, Sønderstrup IM, Southey M, Spurdle AB, Stadler Z, Stoppa-Lyonnet D,

Sukiennicki G, Sutter C, Tan Y, Tea MK, Teixeira MR, Teulé A, Teo SH, Terry MB,

Thomassen M, Tihomirova L, Tischkowitz M, Tognazzo S, Toland AE, Tung N, van den

Ouweland AM, van der Luijt RB, van Engelen K, van Rensburg EJ, Varon-Mateeva R,

Wappenschmidt B, Wijnen JT, Rebbeck T, Chenevix-Trench G, Offit K, Couch FJ, Nord

S, Easton DF, Antoniou AC, Simard J. Association of breast cancer risk in BRCA1

and BRCA2 mutation carriers with genetic variants showing differential allelic

expression: identification of a modifier of breast cancer risk at locus 11q22.3.

Breast Cancer Res Treat. 2017 Jan;161(1):117-134. doi: 10.1007/s10549-016-4018-2.

Epub 2016 Oct 28. PubMed PMID: 27796716; PubMed Central PMCID: PMC5222911.

5: Grey W, Hulse R, Yakovleva A, Genkova D, Whitelaw B, Solomon E, Diaz-Cano SJ,

Izatt L. The RET E616Q Variant is a Gain of Function Mutation Present in a Family

with Features of Multiple Endocrine Neoplasia 2A. Endocr Pathol. 2017

Mar;28(1):41-48. doi: 10.1007/s12022-016-9451-6. PubMed PMID: 27704398.

6: Vigorito E, Kuchenbaecker KB, Beesley J, Adlard J, Agnarsson BA, Andrulis IL,

Arun BK, Barjhoux L, Belotti M, Benitez J, Berger A, Bojesen A, Bonanni B, Brewer

C, Caldes T, Caligo MA, Campbell I, Chan SB, Claes KB, Cohn DE, Cook J, Daly MB,

Damiola F, Davidson R, Pauw Ad, Delnatte C, Diez O, Domchek SM, Dumont M, Durda

K, Dworniczak B, Easton DF, Eccles D, Edwinsdotter Ardnor C, Eeles R, Ejlertsen

B, Ellis S, Evans DG, Feliubadalo L, Fostira F, Foulkes WD, Friedman E, Frost D,

Gaddam P, Ganz PA, Garber J, Garcia-Barberan V, Gauthier-Villars M, Gehrig A,

Gerdes AM, Giraud S, Godwin AK, Goldgar DE, Hake CR, Hansen TV, Healey S, Hodgson

S, Hogervorst FB, Houdayer C, Hulick PJ, Imyanitov EN, Isaacs C, Izatt L,

Izquierdo A, Jacobs L, Jakubowska A, Janavicius R, Jaworska-Bieniek K, Jensen UB,

John EM, Vijai J, Karlan BY, Kast K, Investigators K, Khan S, Kwong A, Laitman Y,

Lester J, Lesueur F, Liljegren A, Lubinski J, Mai PL, Manoukian S, Mazoyer S,

Meindl A, Mensenkamp AR, Montagna M, Nathanson KL, Neuhausen SL, Nevanlinna H,

Niederacher D, Olah E, Olopade OI, Ong KR, Osorio A, Park SK, Paulsson-Karlsson

Y, Pedersen IS, Peissel B, Peterlongo P, Pfeiler G, Phelan CM, Piedmonte M, Poppe

B, Pujana MA, Radice P, Rennert G, Rodriguez GC, Rookus MA, Ross EA, Schmutzler

RK, Simard J, Singer CF, Slavin TP, Soucy P, Southey M, Steinemann D,

Stoppa-Lyonnet D, Sukiennicki G, Sutter C, Szabo CI, Tea MK, Teixeira MR, Teo SH,

Terry MB, Thomassen M, Tibiletti MG, Tihomirova L, Tognazzo S, van Rensburg EJ,

Varesco L, Varon-Mateeva R, Vratimos A, Weitzel JN, McGuffog L, Kirk J, Toland

AE, Hamann U, Lindor N, Ramus SJ, Greene MH, Couch FJ, Offit K, Pharoah PD,

Chenevix-Trench G, Antoniou AC. Fine-Scale Mapping at 9p22.2 Identifies Candidate

Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation

Carriers. PLoS One. 2016 Jul 27;11(7):e0158801. doi:

10.1371/journal.pone.0158801. eCollection 2016. PubMed PMID: 27463617; PubMed

Central PMCID: PMC4963094.

7: Saunders EJ, Dadaev T, Leongamornlert DA, Al Olama AA, Benlloch S, Giles GG,

Wiklund F, Gronberg H, Haiman CA, Schleutker J, Nordestgaard BG, Travis RC, Neal

D, Pasayan N, Khaw KT, Stanford JL, Blot WJ, Thibodeau SN, Maier C, Kibel AS,

Cybulski C, Cannon-Albright L, Brenner H, Park JY, Kaneva R, Batra J, Teixeira

MR, Pandha H, Govindasami K, Muir K; UK Genetic Prostate Cancer Study

Collaborators.; UK ProtecT Study Collaborators.; PRACTICAL Consortium., Easton

DF, Eeles RA, Kote-Jarai Z. Gene and pathway level analyses of germline

DNA-repair gene variants and prostate cancer susceptibility using the

iCOGS-genotyping array. Br J Cancer. 2016 Apr 12;114(8):945-52. PubMed PMID:

26964030; PubMed Central PMCID: PMC5379914.

8: Dunning AM, Michailidou K, Kuchenbaecker KB, Thompson D, French JD, Beesley J,

Healey CS, Kar S, Pooley KA, Lopez-Knowles E, Dicks E, Barrowdale D,

Sinnott-Armstrong NA, Sallari RC, Hillman KM, Kaufmann S, Sivakumaran H, Moradi

Marjaneh M, Lee JS, Hills M, Jarosz M, Drury S, Canisius S, Bolla MK, Dennis J,

Wang Q, Hopper JL, Southey MC, Broeks A, Schmidt MK, Lophatananon A, Muir K,

Beckmann MW, Fasching PA, Dos-Santos-Silva I, Peto J, Sawyer EJ, Tomlinson I,

Burwinkel B, Marme F, Guénel P, Truong T, Bojesen SE, Flyger H, González-Neira A,

Perez JI, Anton-Culver H, Eunjung L, Arndt V, Brenner H, Meindl A, Schmutzler RK,

Brauch H, Hamann U, Aittomäki K, Blomqvist C, Ito H, Matsuo K, Bogdanova N, Dörk

T, Lindblom A, Margolin S, Kosma VM, Mannermaa A, Tseng CC, Wu AH, Lambrechts D,

Wildiers H, Chang-Claude J, Rudolph A, Peterlongo P, Radice P, Olson JE, Giles

GG, Milne RL, Haiman CA, Henderson BE, Goldberg MS, Teo SH, Yip CH, Nord S,

Borresen-Dale AL, Kristensen V, Long J, Zheng W, Pylkäs K, Winqvist R, Andrulis

IL, Knight JA, Devilee P, Seynaeve C, Figueroa J, Sherman ME, Czene K, Darabi H,

Hollestelle A, van den Ouweland AM, Humphreys K, Gao YT, Shu XO, Cox A, Cross SS,

Blot W, Cai Q, Ghoussaini M, Perkins BJ, Shah M, Choi JY, Kang D, Lee SC, Hartman

M, Kabisch M, Torres D, Jakubowska A, Lubinski J, Brennan P, Sangrajrang S,

Ambrosone CB, Toland AE, Shen CY, Wu PE, Orr N, Swerdlow A, McGuffog L, Healey S,

Lee A, Kapuscinski M, John EM, Terry MB, Daly MB, Goldgar DE, Buys SS, Janavicius

R, Tihomirova L, Tung N, Dorfling CM, van Rensburg EJ, Neuhausen SL, Ejlertsen B,

Hansen TV, Osorio A, Benitez J, Rando R, Weitzel JN, Bonanni B, Peissel B,

Manoukian S, Papi L, Ottini L, Konstantopoulou I, Apostolou P, Garber J, Rashid

MU, Frost D; EMBRACE., Izatt L, Ellis S, Godwin AK, Arnold N, Niederacher D,

Rhiem K, Bogdanova-Markov N, Sagne C, Stoppa-Lyonnet D, Damiola F; GEMO Study

Collaborators., Sinilnikova OM, Mazoyer S, Isaacs C, Claes KB, De Leeneer K, de

la Hoya M, Caldes T, Nevanlinna H, Khan S, Mensenkamp AR; HEBON., Hooning MJ,

Rookus MA, Kwong A, Olah E, Diez O, Brunet J, Pujana MA, Gronwald J, Huzarski T,

Barkardottir RB, Laframboise R, Soucy P, Montagna M, Agata S, Teixeira MR;

kConFab Investigators., Park SK, Lindor N, Couch FJ, Tischkowitz M, Foretova L,

Vijai J, Offit K, Singer CF, Rappaport C, Phelan CM, Greene MH, Mai PL, Rennert

G, Imyanitov EN, Hulick PJ, Phillips KA, Piedmonte M, Mulligan AM, Glendon G,

Bojesen A, Thomassen M, Caligo MA, Yoon SY, Friedman E, Laitman Y, Borg A, von

Wachenfeldt A, Ehrencrona H, Rantala J, Olopade OI, Ganz PA, Nussbaum RL, Gayther

SA, Nathanson KL, Domchek SM, Arun BK, Mitchell G, Karlan BY, Lester J,

Maskarinec G, Woolcott C, Scott C, Stone J, Apicella C, Tamimi R, Luben R, Khaw

KT, Helland Å, Haakensen V, Dowsett M, Pharoah PD, Simard J, Hall P,

García-Closas M, Vachon C, Chenevix-Trench G, Antoniou AC, Easton DF, Edwards SL.

Breast cancer risk variants at 6q25 display different phenotype associations and

regulate ESR1, RMND1 and CCDC170. Nat Genet. 2016 Apr;48(4):374-86. doi:

10.1038/ng.3521. Epub 2016 Feb 29. PubMed PMID: 26928228; PubMed Central PMCID:

PMC4938803.

9: Silvestri V, Barrowdale D, Mulligan AM, Neuhausen SL, Fox S, Karlan BY,

Mitchell G, James P, Thull DL, Zorn KK, Carter NJ, Nathanson KL, Domchek SM,

Rebbeck TR, Ramus SJ, Nussbaum RL, Olopade OI, Rantala J, Yoon SY, Caligo MA,

Spugnesi L, Bojesen A, Pedersen IS, Thomassen M, Jensen UB, Toland AE, Senter L,

Andrulis IL, Glendon G, Hulick PJ, Imyanitov EN, Greene MH, Mai PL, Singer CF,

Rappaport-Fuerhauser C, Kramer G, Vijai J, Offit K, Robson M, Lincoln A, Jacobs

L, Machackova E, Foretova L, Navratilova M, Vasickova P, Couch FJ, Hallberg E,

Ruddy KJ, Sharma P, Kim SW; kConFab Investigators., Teixeira MR, Pinto P,

Montagna M, Matricardi L, Arason A, Johannsson OT, Barkardottir RB, Jakubowska A,

Lubinski J, Izquierdo A, Pujana MA, Balmaña J, Diez O, Ivady G, Papp J, Olah E,

Kwong A; Hereditary Breast and Ovarian Cancer Research Group Netherlands

(HEBON)., Nevanlinna H, Aittomäki K, Perez Segura P, Caldes T, Van Maerken T,

Poppe B, Claes KB, Isaacs C, Elan C, Lasset C, Stoppa-Lyonnet D, Barjhoux L,

Belotti M, Meindl A, Gehrig A, Sutter C, Engel C, Niederacher D, Steinemann D,

Hahnen E, Kast K, Arnold N, Varon-Mateeva R, Wand D, Godwin AK, Evans DG, Frost

D, Perkins J, Adlard J, Izatt L, Platte R, Eeles R, Ellis S; EMBRACE., Hamann U,

Garber J, Fostira F, Fountzilas G, Pasini B, Giannini G, Rizzolo P, Russo A,

Cortesi L, Papi L, Varesco L, Palli D, Zanna I, Savarese A, Radice P, Manoukian

S, Peissel B, Barile M, Bonanni B, Viel A, Pensotti V, Tommasi S, Peterlongo P,

Weitzel JN, Osorio A, Benitez J, McGuffog L, Healey S, Gerdes AM, Ejlertsen B,

Hansen TV, Steele L, Ding YC, Tung N, Janavicius R, Goldgar DE, Buys SS, Daly MB,

Bane A, Terry MB, John EM, Southey M, Easton DF, Chenevix-Trench G, Antoniou AC,

Ottini L. Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data

from the Consortium of Investigators of Modifiers of BRCA1/2. Breast Cancer Res.

2016 Feb 9;18(1):15. doi: 10.1186/s13058-016-0671-y. PubMed PMID: 26857456;

PubMed Central PMCID: PMC4746828.

10: Sahasrabudhe R, Estrada A, Lott P, Martin L, Polanco Echeverry G, Velez A,

Neta G, Takahasi M, Saenko V, Mitsutake N; JTCMS Consortium., Jaeguer E, Duque

CS, Rios A, Bohorquez M, Prieto R, Criollo A, Echeverry M, Tomlinson I; CORGI

Consortium.; TCUKIN Consortiums., Carmona LG. The 8q24 rs6983267G variant is

associated with increased thyroid cancer risk. Endocr Relat Cancer. 2015

Oct;22(5):841-9. doi: 10.1530/ERC-15-0081. Epub 2015 Aug 19. PubMed PMID:


11: Ahmed SF, Achermann JC, Arlt W, Balen A, Conway G, Edwards Z, Elford S,

Hughes IA, Izatt L, Krone N, Miles H, O'Toole S, Perry L, Sanders C, Simmonds M,

Watt A, Willis D. Society for Endocrinology UK guidance on the initial evaluation

of an infant or an adolescent with a suspected disorder of sex development

(Revised 2015). Clin Endocrinol (Oxf). 2016 May;84(5):771-88. doi:

10.1111/cen.12857. Epub 2015 Aug 13. PubMed PMID: 26270788; PubMed Central PMCID:

PMC4855619.

12: Hernández-Ramírez LC, Gabrovska P, Dénes J, Stals K, Trivellin G, Tilley D,

Ferrau F, Evanson J, Ellard S, Grossman AB, Roncaroli F, Gadelha MR, Korbonits M;

International FIPA Consortium.. Landscape of Familial Isolated and Young-Onset

Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers. J Clin

Endocrinol Metab. 2015 Sep;100(9):E1242-54. PubMed PMID: 26186299; PubMed Central

PMCID: PMC4570169.

13: Hannan FM, Howles SA, Rogers A, Cranston T, Gorvin CM, Babinsky VN, Reed AA,

Thakker CE, Bockenhauer D, Brown RS, Connell JM, Cook J, Darzy K, Ehtisham S,

Graham U, Hulse T, Hunter SJ, Izatt L, Kumar D, McKenna MJ, McKnight JA, Morrison

PJ, Mughal MZ, O'Halloran D, Pearce SH, Porteous ME, Rahman M, Richardson T,

Robinson R, Scheers I, Siddique H, Van't Hoff WG, Wang T, Whyte MP, Nesbit MA,

Thakker RV. Adaptor protein-2 sigma subunit mutations causing familial

hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype

correlations, codon bias and dominant-negative effects. Hum Mol Genet. 2015 Sep

15;24(18):5079-92. doi: 10.1093/hmg/ddv226. Epub 2015 Jun 16. PubMed PMID:


14: Comino-Méndez I, Leandro-García LJ, Montoya G, Inglada-Pérez L, de Cubas AA,

Currás-Freixes M, Tysoe C, Izatt L, Letón R, Gómez-Graña Á, Mancikova V,

Apellániz-Ruiz M, Mannelli M, Schiavi F, Favier J, Gimenez-Roqueplo AP, Timmers

HJ, Roncador G, Garcia JF, Rodríguez-Antona C, Robledo M, Cascón A. Functional

and in silico assessment of MAX variants of unknown significance. J Mol Med

(Berl). 2015 Nov;93(11):1247-55. doi: 10.1007/s00109-015-1306-y. Epub 2015 Jun

14. PubMed PMID: 26070438.

15: Amin Al Olama A, Dadaev T, Hazelett DJ, Li Q, Leongamornlert D, Saunders EJ,

Stephens S, Cieza-Borrella C, Whitmore I, Benlloch Garcia S, Giles GG, Southey

MC, Fitzgerald L, Gronberg H, Wiklund F, Aly M, Henderson BE, Schumacher F,

Haiman CA, Schleutker J, Wahlfors T, Tammela TL, Nordestgaard BG, Key TJ, Travis

RC, Neal DE, Donovan JL, Hamdy FC, Pharoah P, Pashayan N, Khaw KT, Stanford JL,

Thibodeau SN, Mcdonnell SK, Schaid DJ, Maier C, Vogel W, Luedeke M, Herkommer K,

Kibel AS, Cybulski C, Wokołorczyk D, Kluzniak W, Cannon-Albright L, Brenner H,

Butterbach K, Arndt V, Park JY, Sellers T, Lin HY, Slavov C, Kaneva R, Mitev V,

Batra J, Clements JA, Spurdle A, Teixeira MR, Paulo P, Maia S, Pandha H, Michael

A, Kierzek A, Govindasami K, Guy M, Lophatonanon A, Muir K, Viñuela A, Brown AA;

PRACTICAL Consortium.; COGS-CRUK GWAS-ELLIPSE (Part of GAME-ON) Initiative.;

Australian Prostate Cancer BioResource.; UK Genetic Prostate Cancer Study

Collaborators.; UK ProtecT Study Collaborators., Freedman M, Conti DV, Easton D,

Coetzee GA, Eeles RA, Kote-Jarai Z. Multiple novel prostate cancer susceptibility

signals identified by fine-mapping of known risk loci among Europeans. Hum Mol

Genet. 2015 Oct 1;24(19):5589-602. doi: 10.1093/hmg/ddv203. Epub 2015 May 29.

PubMed PMID: 26025378; PubMed Central PMCID: PMC4572072.

16: Loveday C, Tatton-Brown K, Clarke M, Westwood I, Renwick A, Ramsay E, Nemeth

A, Campbell J, Joss S, Gardner M, Zachariou A, Elliott A, Ruark E, van Montfort

R; Childhood Overgrowth Collaboration., Rahman N. Mutations in the PP2A

regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human

overgrowth. Hum Mol Genet. 2015 Sep 1;24(17):4775-9. doi: 10.1093/hmg/ddv182.

Epub 2015 May 13. PubMed PMID: 25972378; PubMed Central PMCID: PMC4527483.

17: Blein S, Bardel C, Danjean V, McGuffog L, Healey S, Barrowdale D, Lee A,

Dennis J, Kuchenbaecker KB, Soucy P, Terry MB, Chung WK, Goldgar DE, Buys SS;

Breast Cancer Family Registry., Janavicius R, Tihomirova L, Tung N, Dorfling CM,

van Rensburg EJ, Neuhausen SL, Ding YC, Gerdes AM, Ejlertsen B, Nielsen FC,

Hansen TV, Osorio A, Benitez J, Conejero RA, Segota E, Weitzel JN, Thelander M,

Peterlongo P, Radice P, Pensotti V, Dolcetti R, Bonanni B, Peissel B, Zaffaroni

D, Scuvera G, Manoukian S, Varesco L, Capone GL, Papi L, Ottini L, Yannoukakos D,

Konstantopoulou I, Garber J, Hamann U, Donaldson A, Brady A, Brewer C, Foo C,

Evans DG, Frost D, Eccles D; EMBRACE., Douglas F, Cook J, Adlard J, Barwell J,

Walker L, Izatt L, Side LE, Kennedy MJ, Tischkowitz M, Rogers MT, Porteous ME,

Morrison PJ, Platte R, Eeles R, Davidson R, Hodgson S, Cole T, Godwin AK, Isaacs

C, Claes K, De Leeneer K, Meindl A, Gehrig A, Wappenschmidt B, Sutter C, Engel C,

Niederacher D, Steinemann D, Plendl H, Kast K, Rhiem K, Ditsch N, Arnold N,

Varon-Mateeva R, Schmutzler RK, Preisler-Adams S, Markov NB, Wang-Gohrke S, de

Pauw A, Lefol C, Lasset C, Leroux D, Rouleau E, Damiola F; GEMO Study

Collaborators., Dreyfus H, Barjhoux L, Golmard L, Uhrhammer N, Bonadona V, Sornin

V, Bignon YJ, Carter J, Van Le L, Piedmonte M, DiSilvestro PA, de la Hoya M,

Caldes T, Nevanlinna H, Aittomäki K, Jager A, van den Ouweland AM, Kets CM, Aalfs

CM, van Leeuwen FE, Hogervorst FB, Meijers-Heijboer HE; HEBON., Oosterwijk JC,

van Roozendaal KE, Rookus MA, Devilee P, van der Luijt RB, Olah E, Diez O, Teulé

A, Lazaro C, Blanco I, Del Valle J, Jakubowska A, Sukiennicki G, Gronwald J,

Lubinski J, Durda K, Jaworska-Bieniek K, Agnarsson BA, Maugard C, Amadori A,

Montagna M, Teixeira MR, Spurdle AB, Foulkes W, Olswold C, Lindor NM, Pankratz

VS, Szabo CI, Lincoln A, Jacobs L, Corines M, Robson M, Vijai J, Berger A,

Fink-Retter A, Singer CF, Rappaport C, Kaulich DG, Pfeiler G, Tea MK, Greene MH,

Mai PL, Rennert G, Imyanitov EN, Mulligan AM, Glendon G, Andrulis IL, Tchatchou

S, Toland AE, Pedersen IS, Thomassen M, Kruse TA, Jensen UB, Caligo MA, Friedman

E, Zidan J, Laitman Y, Lindblom A, Melin B, Arver B, Loman N, Rosenquist R,

Olopade OI, Nussbaum RL, Ramus SJ, Nathanson KL, Domchek SM, Rebbeck TR, Arun BK,

Mitchell G, Karlan BY, Lester J, Orsulic S, Stoppa-Lyonnet D, Thomas G, Simard J,

Couch FJ, Offit K, Easton DF, Chenevix-Trench G, Antoniou AC, Mazoyer S, Phelan

CM, Sinilnikova OM, Cox DG. An original phylogenetic approach identified

mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in

BRCA2 mutation carriers. Breast Cancer Res. 2015 Apr 25;17:61. doi:

10.1186/s13058-015-0567-2. PubMed PMID: 25925750; PubMed Central PMCID:

PMC4478717.

18: Rebbeck TR, Mitra N, Wan F, Sinilnikova OM, Healey S, McGuffog L, Mazoyer S,

Chenevix-Trench G, Easton DF, Antoniou AC, Nathanson KL; CIMBA Consortium.,

Laitman Y, Kushnir A, Paluch-Shimon S, Berger R, Zidan J, Friedman E, Ehrencrona

H, Stenmark-Askmalm M, Einbeigi Z, Loman N, Harbst K, Rantala J, Melin B, Huo D,

Olopade OI, Seldon J, Ganz PA, Nussbaum RL, Chan SB, Odunsi K, Gayther SA,

Domchek SM, Arun BK, Lu KH, Mitchell G, Karlan BY, Walsh C, Lester J, Godwin AK,

Pathak H, Ross E, Daly MB, Whittemore AS, John EM, Miron A, Terry MB, Chung WK,

Goldgar DE, Buys SS, Janavicius R, Tihomirova L, Tung N, Dorfling CM, van

Rensburg EJ, Steele L, Neuhausen SL, Ding YC, Ejlertsen B, Gerdes AM, Hansen Tv,

Ramón y Cajal T, Osorio A, Benitez J, Godino J, Tejada MI, Duran M, Weitzel JN,

Bobolis KA, Sand SR, Fontaine A, Savarese A, Pasini B, Peissel B, Bonanni B,

Zaffaroni D, Vignolo-Lutati F, Scuvera G, Giannini G, Bernard L, Genuardi M,

Radice P, Dolcetti R, Manoukian S, Pensotti V, Gismondi V, Yannoukakos D, Fostira

F, Garber J, Torres D, Rashid MU, Hamann U, Peock S, Frost D, Platte R, Evans DG,

Eeles R, Davidson R, Eccles D, Cole T, Cook J, Brewer C, Hodgson S, Morrison PJ,

Walker L, Porteous ME, Kennedy MJ, Izatt L, Adlard J, Donaldson A, Ellis S,

Sharma P, Schmutzler RK, Wappenschmidt B, Becker A, Rhiem K, Hahnen E, Engel C,

Meindl A, Engert S, Ditsch N, Arnold N, Plendl HJ, Mundhenke C, Niederacher D,

Fleisch M, Sutter C, Bartram CR, Dikow N, Wang-Gohrke S, Gadzicki D, Steinemann

D, Kast K, Beer M, Varon-Mateeva R, Gehrig A, Weber BH, Stoppa-Lyonnet D,

Sinilnikova OM, Mazoyer S, Houdayer C, Belotti M, Gauthier-Villars M, Damiola F,

Boutry-Kryza N, Lasset C, Sobol H, Peyrat JP, Muller D, Fricker JP, Collonge-Rame

MA, Mortemousque I, Nogues C, Rouleau E, Isaacs C, De Paepe A, Poppe B, Claes K,

De Leeneer K, Piedmonte M, Rodriguez G, Wakely K, Boggess J, Blank SV, Basil J,

Azodi M, Phillips KA, Caldes T, de la Hoya M, Romero A, Nevanlinna H, Aittomäki

K, van der Hout AH, Hogervorst FB, Verhoef S, Collée JM, Seynaeve C, Oosterwijk

JC, Gille JJ, Wijnen JT, Gómez Garcia EB, Kets CM, Ausems MG, Aalfs CM, Devilee

P, Mensenkamp AR, Kwong A, Olah E, Papp J, Diez O, Lazaro C, Darder E, Blanco I,

Salinas M, Jakubowska A, Lubinski J, Gronwald J, Jaworska-Bieniek K, Durda K,

Sukiennicki G, Huzarski T, Byrski T, Cybulski C, Toloczko-Grabarek A,

Złowocka-Perłowska E, Menkiszak J, Arason A, Barkardottir RB, Simard J,

Laframboise R, Montagna M, Agata S, Alducci E, Peixoto A, Teixeira MR, Spurdle

AB, Lee MH, Park SK, Kim SW, Friebel TM, Couch FJ, Lindor NM, Pankratz VS,

Guidugli L, Wang X, Tischkowitz M, Foretova L, Vijai J, Offit K, Robson M,

Rau-Murthy R, Kauff N, Fink-Retter A, Singer CF, Rappaport C, Gschwantler-Kaulich

D, Pfeiler G, Tea MK, Berger A, Greene MH, Mai PL, Imyanitov EN, Toland AE,

Senter L, Bojesen A, Pedersen IS, Skytte AB, Sunde L, Thomassen M, Moeller ST,

Kruse TA, Jensen UB, Caligo MA, Aretini P, Teo SH, Selkirk CG, Hulick PJ,

Andrulis I. Association of type and location of BRCA1 and BRCA2 mutations with

risk of breast and ovarian cancer. JAMA. 2015 Apr 7;313(13):1347-61. doi:

10.1001/jama.2014.5985. Erratum in: JAMA. 2015 Aug 11;314(6):628. PubMed PMID:


19: Kuchenbaecker KB, Ramus SJ, Tyrer J, Lee A, Shen HC, Beesley J, Lawrenson K,

McGuffog L, Healey S, Lee JM, Spindler TJ, Lin YG, Pejovic T, Bean Y, Li Q,

Coetzee S, Hazelett D, Miron A, Southey M, Terry MB, Goldgar DE, Buys SS,

Janavicius R, Dorfling CM, van Rensburg EJ, Neuhausen SL, Ding YC, Hansen TV,

Jønson L, Gerdes AM, Ejlertsen B, Barrowdale D, Dennis J, Benitez J, Osorio A,

Garcia MJ, Komenaka I, Weitzel JN, Ganschow P, Peterlongo P, Bernard L, Viel A,

Bonanni B, Peissel B, Manoukian S, Radice P, Papi L, Ottini L, Fostira F,

Konstantopoulou I, Garber J, Frost D, Perkins J, Platte R, Ellis S; EMBRACE.,

Godwin AK, Schmutzler RK, Meindl A, Engel C, Sutter C, Sinilnikova OM; GEMO Study

Collaborators., Damiola F, Mazoyer S, Stoppa-Lyonnet D, Claes K, De Leeneer K,

Kirk J, Rodriguez GC, Piedmonte M, O'Malley DM, de la Hoya M, Caldes T, Aittomäki

K, Nevanlinna H, Collée JM, Rookus MA, Oosterwijk JC; Breast Cancer Family

Registry., Tihomirova L, Tung N, Hamann U, Isaccs C, Tischkowitz M, Imyanitov EN,

Caligo MA, Campbell IG, Hogervorst FB; HEBON., Olah E, Diez O, Blanco I, Brunet

J, Lazaro C, Pujana MA, Jakubowska A, Gronwald J, Lubinski J, Sukiennicki G,

Barkardottir RB, Plante M, Simard J, Soucy P, Montagna M, Tognazzo S, Teixeira

MR; KConFab Investigators., Pankratz VS, Wang X, Lindor N, Szabo CI, Kauff N,

Vijai J, Aghajanian CA, Pfeiler G, Berger A, Singer CF, Tea MK, Phelan CM, Greene

MH, Mai PL, Rennert G, Mulligan AM, Tchatchou S, Andrulis IL, Glendon G, Toland

AE, Jensen UB, Kruse TA, Thomassen M, Bojesen A, Zidan J, Friedman E, Laitman Y,

Soller M, Liljegren A, Arver B, Einbeigi Z, Stenmark-Askmalm M, Olopade OI,

Nussbaum RL, Rebbeck TR, Nathanson KL, Domchek SM, Lu KH, Karlan BY, Walsh C,

Lester J; Australian Cancer Study (Ovarian Cancer Investigators).; Australian

Ovarian Cancer Study Group., Hein A, Ekici AB, Beckmann MW, Fasching PA,

Lambrechts D, Van Nieuwenhuysen E, Vergote I, Lambrechts S, Dicks E, Doherty JA,

Wicklund KG, Rossing MA, Rudolph A, Chang-Claude J, Wang-Gohrke S, Eilber U,

Moysich KB, Odunsi K, Sucheston L, Lele S, Wilkens LR, Goodman MT, Thompson PJ,

Shvetsov YB, Runnebaum IB, Dürst M, Hillemanns P, Dörk T, Antonenkova N,

Bogdanova N, Leminen A, Pelttari LM, Butzow R, Modugno F, Kelley JL, Edwards RP,

Ness RB, du Bois A, Heitz F, Schwaab I, Harter P, Matsuo K, Hosono S, Orsulic S,

Jensen A, Kjaer SK, Hogdall E, Hasmad HN, Azmi MA, Teo SH, Woo YL, Fridley BL,

Goode EL, Cunningham JM, Vierkant RA, Bruinsma F, Giles GG, Liang D, Hildebrandt

MA, Wu X, Levine DA, Bisogna M, Berchuck A, Iversen ES, Schildkraut JM, Concannon

P, Weber RP, Cramer DW, Terry KL, Poole EM, Tworoger SS, Bandera EV, Orlow I,

Olson SH, Krakstad C, Salvesen HB, Tangen IL, Bjorge L, van Altena AM, Aben KK,

Kiemeney LA, Massuger LF, Kellar M, Brooks-Wilson A, Kelemen LE, Cook LS, Le ND,

Cybulski C, Yang H, Lissowska J, Brinton LA, Wentzensen N, Hogdall C, Lundvall L,

Nedergaard L, Baker H, Song H, Eccles D, McNeish I, Paul J, Carty K, Siddiqui N,

Glasspool R, Whittemore AS, Rothstein JH, McGuire V, Sieh W, Ji BT, Zheng W, Shu

XO, Gao YT, Rosen B, Risch HA, McLaughlin JR, Narod SA, Monteiro AN, Chen A, Lin

HY, Permuth-Wey J, Sellers TA, Tsai YY, Chen Z, Ziogas A, Anton-Culver H,

Gentry-Maharaj A, Menon U, Harrington P, Lee AW, Wu AH, Pearce CL, Coetzee G,

Pike MC, Dansonka-Mieszkowska A, Timorek A, Rzepecka IK, Kupryjanczyk J, Freedman

M, Noushmehr H, Easton DF, Offit K, Couch FJ, Gayther S, Pharoah PP, Antoniou AC,

Chenevix-Trench G; Consortium of Investigators of Modifiers of BRCA1 and BRCA2..

Identification of six new susceptibility loci for invasive epithelial ovarian

cancer. Nat Genet. 2015 Feb;47(2):164-71. doi: 10.1038/ng.3185. Epub 2015 Jan 12.


20: Evans DG, Barwell J, Eccles DM, Collins A, Izatt L, Jacobs C, Donaldson A,

Brady AF, Cuthbert A, Harrison R, Thomas S, Howell A; FH02 Study Group.; RGC

teams., Miedzybrodzka Z, Murray A. The Angelina Jolie effect: how high celebrity

profile can have a major impact on provision of cancer related services. Breast

Cancer Res. 2014 Sep 19;16(5):442. doi: 10.1186/s13058-014-0442-6. PubMed PMID:


21: Peterlongo P, Chang-Claude J, Moysich KB, Rudolph A, Schmutzler RK, Simard J,

Soucy P, Eeles RA, Easton DF, Hamann U, Wilkening S, Chen B, Rookus MA, Schmidt

MK, van der Baan FH, Spurdle AB, Walker LC, Lose F, Maia AT, Montagna M,

Matricardi L, Lubinski J, Jakubowska A, Gómez Garcia EB, Olopade OI, Nussbaum RL,

Nathanson KL, Domchek SM, Rebbeck TR, Arun BK, Karlan BY, Orsulic S, Lester J,

Chung WK, Miron A, Southey MC, Goldgar DE, Buys SS, Janavicius R, Dorfling CM,

van Rensburg EJ, Ding YC, Neuhausen SL, Hansen TV, Gerdes AM, Ejlertsen B, Jønson

L, Osorio A, Martínez-Bouzas C, Benitez J, Conway EE, Blazer KR, Weitzel JN,

Manoukian S, Peissel B, Zaffaroni D, Scuvera G, Barile M, Ficarazzi F, Mariette

F, Fortuzzi S, Viel A, Giannini G, Papi L, Martayan A, Tibiletti MG, Radice P,

Vratimos A, Fostira F, Garber JE, Donaldson A, Brewer C, Foo C, Evans DG, Frost

D, Eccles D, Brady A, Cook J, Tischkowitz M, Adlard J, Barwell J, Walker L, Izatt

L, Side LE, Kennedy MJ, Rogers MT, Porteous ME, Morrison PJ, Platte R, Davidson

R, Hodgson SV, Ellis S, Cole T; EMBRACE., Godwin AK, Claes K, Van Maerken T,

Meindl A, Gehrig A, Sutter C, Engel C, Niederacher D, Steinemann D, Plendl H,

Kast K, Rhiem K, Ditsch N, Arnold N, Varon-Mateeva R, Wappenschmidt B,

Wang-Gohrke S, Bressac-de Paillerets B, Buecher B, Delnatte C, Houdayer C,

Stoppa-Lyonnet D, Damiola F, Coupier I, Barjhoux L, Venat-Bouvet L, Golmard L,

Boutry-Kryza N, Sinilnikova OM, Caron O, Pujol P, Mazoyer S, Belotti M; GEMO

Study Collaborators., Piedmonte M, Friedlander ML, Rodriguez GC, Copeland LJ, de

la Hoya M, Segura PP, Nevanlinna H, Aittomäki K, van Os TA, Meijers-Heijboer HE,

van der Hout AH, Vreeswijk MP, Hoogerbrugge N, Ausems MG, van Doorn HC, Collée

JM; HEBON., Olah E, Diez O, Blanco I, Lazaro C, Brunet J, Feliubadalo L, Cybulski

C, Gronwald J, Durda K, Jaworska-Bieniek K, Sukiennicki G, Arason A, Chiquette J,

Teixeira MR, Olswold C, Couch FJ, Lindor NM, Wang X, Szabo CI, Offit K, Corines

M, Jacobs L, Robson ME, Zhang L, Joseph V, Berger A, Singer CF, Rappaport C,

Kaulich DG, Pfeiler G, Tea MK, Phelan CM, Greene MH, Mai PL, Rennert G, Mulligan

AM, Glendon G, Tchatchou S, Andrulis IL, Toland AE, Bojesen A, Pedersen IS,

Thomassen M, Jensen UB, Laitman Y, Rantala J, von Wachenfeldt A, Ehrencrona H,

Askmalm MS, Borg Å, Kuchenbaecker KB, McGuffog L, Barrowdale D, Healey S, Lee A,

Pharoah PD, Chenevix-Trench G; KConFab Investigators., Antoniou AC, Friedman E.

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2

mutation carriers. Cancer Epidemiol Biomarkers Prev. 2015 Jan;24(1):308-16. doi:

10.1158/1055-9965.EPI-14-0532. Epub 2014 Oct 21. PubMed PMID: 25336561; PubMed


22: Michalarea V, Calcasola M, Cane P, Tobal K, Izatt L, Spicer J. EGFR-mutated

lung cancer in Li-Fraumeni syndrome. Lung Cancer. 2014 Sep;85(3):485-7. doi:

10.1016/j.lungcan.2014.06.017. Epub 2014 Jun 30. PubMed PMID: 25047674.

23: Schulte KM, Talat N, Galata G, Aylwin S, Izatt L, Eisenhofer G, Barthel A,

Bornstein SR. Genetics and the clinical approach to paragangliomas. Horm Metab

Res. 2014 Dec;46(13):964-73. doi: 10.1055/s-0034-1383581. Epub 2014 Jul 11.

PubMed PMID: 25014332.

24: Rogers A, Nesbit MA, Hannan FM, Howles SA, Gorvin CM, Cranston T, Allgrove J,

Bevan JS, Bano G, Brain C, Datta V, Grossman AB, Hodgson SV, Izatt L,

Millar-Jones L, Pearce SH, Robertson L, Selby PL, Shine B, Snape K, Warner J,

Thakker RV. Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1)

gene: search for autosomal dominant hypocalcemia type 3 (ADH3). J Clin Endocrinol

Metab. 2014 Jul;99(7):E1300-5. doi: 10.1210/jc.2013-3909. Epub 2014 Apr 7. PubMed

PMID: 24708097; PubMed Central PMCID: PMC4447854.

25: Osorio A, Milne RL, Kuchenbaecker K, Vaclová T, Pita G, Alonso R, Peterlongo

P, Blanco I, de la Hoya M, Duran M, Díez O, Ramón Y Cajal T, Konstantopoulou I,

Martínez-Bouzas C, Andrés Conejero R, Soucy P, McGuffog L, Barrowdale D, Lee A,

Swe-Brca, Arver B, Rantala J, Loman N, Ehrencrona H, Olopade OI, Beattie MS,

Domchek SM, Nathanson K, Rebbeck TR, Arun BK, Karlan BY, Walsh C, Lester J, John

EM, Whittemore AS, Daly MB, Southey M, Hopper J, Terry MB, Buys SS, Janavicius R,

Dorfling CM, van Rensburg EJ, Steele L, Neuhausen SL, Ding YC, Hansen TV, Jønson

L, Ejlertsen B, Gerdes AM, Infante M, Herráez B, Moreno LT, Weitzel JN, Herzog J,

Weeman K, Manoukian S, Peissel B, Zaffaroni D, Scuvera G, Bonanni B, Mariette F,

Volorio S, Viel A, Varesco L, Papi L, Ottini L, Tibiletti MG, Radice P,

Yannoukakos D, Garber J, Ellis S, Frost D, Platte R, Fineberg E, Evans G, Lalloo

F, Izatt L, Eeles R, Adlard J, Davidson R, Cole T, Eccles D, Cook J, Hodgson S,

Brewer C, Tischkowitz M, Douglas F, Porteous M, Side L, Walker L, Morrison P,

Donaldson A, Kennedy J, Foo C, Godwin AK, Schmutzler RK, Wappenschmidt B, Rhiem

K, Engel C, Meindl A, Ditsch N, Arnold N, Plendl HJ, Niederacher D, Sutter C,

Wang-Gohrke S, Steinemann D, Preisler-Adams S, Kast K, Varon-Mateeva R, Gehrig A,

Stoppa-Lyonnet D, Sinilnikova OM, Mazoyer S, Damiola F, Poppe B, Claes K,

Piedmonte M, Tucker K, Backes F, Rodríguez G, Brewster W, Wakeley K, Rutherford

T, Caldés T, Nevanlinna H, Aittomäki K, Rookus MA, van Os TA, van der Kolk L, de

Lange JL, Meijers-Heijboer HE, van der Hout AH, van Asperen CJ, Gómez Garcia EB,

Hoogerbrugge N, Collée JM, van Deurzen CH, van der Luijt RB, Devilee P, Hebon,

Olah E, Lázaro C, Teulé A, Menéndez M, Jakubowska A, Cybulski C, Gronwald J,

Lubinski J, Durda K, Jaworska-Bieniek K, Johannsson OT, Maugard C, Montagna M,

Tognazzo S, Teixeira MR, Healey S, Investigators K, Olswold C, Guidugli L, Lindor

N, Slager S, Szabo CI, Vijai J, Robson M, Kauff N, Zhang L, Rau-Murthy R,

Fink-Retter A, Singer CF, Rappaport C, Geschwantler Kaulich D, Pfeiler G, Tea MK,

Berger A, Phelan CM, Greene MH, Mai PL, Lejbkowicz F, Andrulis I, Mulligan AM,

Glendon G, Toland AE, Bojesen A, Pedersen IS, Sunde L, Thomassen M, Kruse TA,

Jensen UB, Friedman E, Laitman Y, Shimon SP, Simard J, Easton DF, Offit K, Couch

FJ, Chenevix-Trench G, Antoniou AC, Benitez J. DNA glycosylases involved in base

excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation

carriers. PLoS Genet. 2014 Apr 3;10(4):e1004256. doi:

10.1371/journal.pgen.1004256. eCollection 2014 Apr. PubMed PMID: 24698998; PubMed


26: Pooley KA, McGuffog L, Barrowdale D, Frost D, Ellis SD, Fineberg E, Platte R,

Izatt L, Adlard J, Bardwell J, Brewer C, Cole T, Cook J, Davidson R, Donaldson A,

Dorkins H, Douglas F, Eason J, Houghton C, Kennedy MJ, McCann E, Miedzybrodzka Z,

Murray A, Porteous ME, Rogers MT, Side LE, Tischkowitz M, Walker L, Hodgson S,

Eccles DM, Morrison PJ, Evans DG, Eeles RA, Antoniou AC, Easton DF, Dunning AM;

EMBRACE;.. Lymphocyte telomere length is long in BRCA1 and BRCA2 mutation

carriers regardless of cancer-affected status. Cancer Epidemiol Biomarkers Prev.

2014 Jun;23(6):1018-24. doi: 10.1158/1055-9965.EPI-13-0635-T. Epub 2014 Mar 18.


27: Killick E, Tymrakiewicz M, Cieza-Borrella C, Smith P, Thompson DJ, Pooley KA,

Easton DF, Bancroft E, Page E, Leongamornlert D; IMPACT collaborators.,

Kote-Jarai Z, Eeles RA. Telomere length shows no association with BRCA1 and BRCA2

mutation status. PLoS One. 2014 Jan 29;9(1):e86659. doi:

10.1371/journal.pone.0086659. eCollection 2014. PubMed PMID: 24489760; PubMed


28: Bancroft EK, Page EC, Castro E, Lilja H, Vickers A, Sjoberg D, Assel M,

Foster CS, Mitchell G, Drew K, Mæhle L, Axcrona K, Evans DG, Bulman B, Eccles D,

McBride D, van Asperen C, Vasen H, Kiemeney LA, Ringelberg J, Cybulski C,

Wokolorczyk D, Selkirk C, Hulick PJ, Bojesen A, Skytte AB, Lam J, Taylor L,

Oldenburg R, Cremers R, Verhaegh G, van Zelst-Stams WA, Oosterwijk JC, Blanco I,

Salinas M, Cook J, Rosario DJ, Buys S, Conner T, Ausems MG, Ong KR, Hoffman J,

Domchek S, Powers J, Teixeira MR, Maia S, Foulkes WD, Taherian N, Ruijs M,

Helderman-van den Enden AT, Izatt L, Davidson R, Adank MA, Walker L, Schmutzler

R, Tucker K, Kirk J, Hodgson S, Harris M, Douglas F, Lindeman GJ, Zgajnar J,

Tischkowitz M, Clowes VE, Susman R, Ramón y Cajal T, Patcher N, Gadea N,

Spigelman A, van Os T, Liljegren A, Side L, Brewer C, Brady AF, Donaldson A,

Stefansdottir V, Friedman E, Chen-Shtoyerman R, Amor DJ, Copakova L, Barwell J,

Giri VN, Murthy V, Nicolai N, Teo SH, Greenhalgh L, Strom S, Henderson A, McGrath

J, Gallagher D, Aaronson N, Ardern-Jones A, Bangma C, Dearnaley D, Costello P,

Eyfjord J, Rothwell J, Falconer A, Gronberg H, Hamdy FC, Johannsson O, Khoo V,

Kote-Jarai Z, Lubinski J, Axcrona U, Melia J, McKinley J, Mitra AV, Moynihan C,

Rennert G, Suri M, Wilson P, Killick E; IMPACT Collaborators., Moss S, Eeles RA.

Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results

from the initial screening round of the IMPACT study. Eur Urol. 2014

Sep;66(3):489-99. doi: 10.1016/j.eururo.2014.01.003. Epub 2014 Jan 15. Erratum

in: Eur Urol. 2015 Jun;67(6):e126. PubMed PMID: 24484606; PubMed Central PMCID:

PMC4105321.

29: Kuchenbaecker KB, Neuhausen SL, Robson M, Barrowdale D, McGuffog L, Mulligan

AM, Andrulis IL, Spurdle AB, Schmidt MK, Schmutzler RK, Engel C, Wappenschmidt B,

Nevanlinna H, Thomassen M, Southey M, Radice P, Ramus SJ, Domchek SM, Nathanson

KL, Lee A, Healey S, Nussbaum RL, Rebbeck TR, Arun BK, James P, Karlan BY, Lester

J, Cass I; Breast Cancer Family Registry., Terry MB, Daly MB, Goldgar DE, Buys

SS, Janavicius R, Tihomirova L, Tung N, Dorfling CM, van Rensburg EJ, Steele L, v

O Hansen T, Ejlertsen B, Gerdes AM, Nielsen FC, Dennis J, Cunningham J, Hart S,

Slager S, Osorio A, Benitez J, Duran M, Weitzel JN, Tafur I, Hander M, Peterlongo

P, Manoukian S, Peissel B, Roversi G, Scuvera G, Bonanni B, Mariani P, Volorio S,

Dolcetti R, Varesco L, Papi L, Tibiletti MG, Giannini G, Fostira F,

Konstantopoulou I, Garber J, Hamann U, Donaldson A, Brewer C, Foo C, Evans DG,

Frost D, Eccles D; EMBRACE Study., Douglas F, Brady A, Cook J, Tischkowitz M,

Adlard J, Barwell J, Ong KR, Walker L, Izatt L, Side LE, Kennedy MJ, Rogers MT,

Porteous ME, Morrison PJ, Platte R, Eeles R, Davidson R, Hodgson S, Ellis S,

Godwin AK, Rhiem K, Meindl A, Ditsch N, Arnold N, Plendl H, Niederacher D, Sutter

C, Steinemann D, Bogdanova-Markov N, Kast K, Varon-Mateeva R, Wang-Gohrke S,

Gehrig A, Markiefka B, Buecher B, Lefol C, Stoppa-Lyonnet D, Rouleau E, Prieur F,

Damiola F; GEMO Study Collaborators., Barjhoux L, Faivre L, Longy M, Sevenet N,

Sinilnikova OM, Mazoyer S, Bonadona V, Caux-Moncoutier V, Isaacs C, Van Maerken

T, Claes K, Piedmonte M, Andrews L, Hays J, Rodriguez GC, Caldes T, de la Hoya M,

Khan S, Hogervorst FB, Aalfs CM, de Lange JL, Meijers-Heijboer HE, van der Hout

AH, Wijnen JT, van Roozendaal KE, Mensenkamp AR, van den Ouweland AM, van Deurzen

CH, van der Luijt RB; HEBON., Olah E, Diez O, Lazaro C, Blanco I, Teulé A,

Menendez M, Jakubowska A, Lubinski J, Cybulski C, Gronwald J, Jaworska-Bieniek K,

Durda K, Arason A, Maugard C, Soucy P, Montagna M, Agata S, Teixeira MR; KConFab

Investigators., Olswold C, Lindor N, Pankratz VS, Hallberg E, Wang X, Szabo CI,

Vijai J, Jacobs L, Corines M, Lincoln A, Berger A, Fink-Retter A, Singer CF,

Rappaport C, Kaulich DG, Pfeiler G, Tea MK, Phelan CM, Mai PL, Greene MH, Rennert

G, Imyanitov EN, Glendon G, Toland AE, Bojesen A, Pedersen IS, Jensen UB, Caligo

MA, Friedman E, Berger R, Laitman Y, Rantala J, Arver B, Loman N, Borg A,

Ehrencrona H, Olopade OI, Simard J, Easton DF, Chenevix-Trench G, Offit K, Couch

FJ, Antoniou AC; CIMBA.. Associations of common breast cancer susceptibility

alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers.

Breast Cancer Res. 2014 Dec 31;16(6):3416. doi: 10.1186/s13058-014-0492-9. PubMed


30: Spurdle AB, Couch FJ, Parsons MT, McGuffog L, Barrowdale D, Bolla MK, Wang Q,

Healey S, Schmutzler R, Wappenschmidt B, Rhiem K, Hahnen E, Engel C, Meindl A,

Ditsch N, Arnold N, Plendl H, Niederacher D, Sutter C, Wang-Gohrke S, Steinemann

D, Preisler-Adams S, Kast K, Varon-Mateeva R, Ellis S, Frost D, Platte R, Perkins

J, Evans DG, Izatt L, Eeles R, Adlard J, Davidson R, Cole T, Scuvera G, Manoukian

S, Bonanni B, Mariette F, Fortuzzi S, Viel A, Pasini B, Papi L, Varesco L,

Balleine R, Nathanson KL, Domchek SM, Offitt K, Jakubowska A, Lindor N, Thomassen

M, Jensen UB, Rantala J, Borg Å, Andrulis IL, Miron A, Hansen TV, Caldes T,

Neuhausen SL, Toland AE, Nevanlinna H, Montagna M, Garber J, Godwin AK, Osorio A,

Factor RE, Terry MB, Rebbeck TR, Karlan BY, Southey M, Rashid MU, Tung N, Pharoah

PD, Blows FM, Dunning AM, Provenzano E, Hall P, Czene K, Schmidt MK, Broeks A,

Cornelissen S, Verhoef S, Fasching PA, Beckmann MW, Ekici AB, Slamon DJ, Bojesen

SE, Nordestgaard BG, Nielsen SF, Flyger H, Chang-Claude J, Flesch-Janys D,

Rudolph A, Seibold P, Aittomäki K, Muranen TA, Heikkilä P, Blomqvist C, Figueroa

J, Chanock SJ, Brinton L, Lissowska J, Olson JE, Pankratz VS, John EM, Whittemore

AS, West DW, Hamann U, Torres D, Ulmer HU, Rüdiger T, Devilee P, Tollenaar RA,

Seynaeve C, Van Asperen CJ, Eccles DM, Tapper WJ, Durcan L, Jones L, Peto J,

dos-Santos-Silva I, Fletcher O, Johnson N, Dwek M, Swann R, Bane AL, Glendon G,

Mulligan AM, Giles GG, Milne RL, Baglietto L, McLean C, Carpenter J, Clarke C,

Scott R, Brauch H, Brüning T, Ko YD, Cox A, Cross SS, Reed MW, Lubinski J,

Jaworska-Bieniek K, Durda K, Gronwald J, Dörk T, Bogdanova N, Park-Simon TW,

Hillemanns P, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Burwinkel B,

Marme F, Surovy H, Yang R, Anton-Culver H, Ziogas A, Hooning MJ, Collée JM,

Martens JW, Tilanus-Linthorst MM, Brenner H, Dieffenbach AK, Arndt V, Stegmaier

C, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Lindblom A, Margolin S,

Joseph V, Robson M, Rau-Murthy R, González-Neira A, Arias JI, Zamora P, Benítez

J, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Peterlongo P, Zaffaroni D,

Barile M, Capra F, Radice P, Teo SH, Easton DF, Antoniou AC, Chenevix-Trench G,

Goldgar DE; ABCTB Investigators.; EMBRACE Group.; GENICA Network.; HEBON Group.;

kConFab Investigators.. Refined histopathological predictors of BRCA1 and BRCA2

mutation status: a large-scale analysis of breast cancer characteristics from the

BCAC, CIMBA, and ENIGMA consortia. Breast Cancer Res. 2014 Dec 23;16(6):3419.

doi: 10.1186/s13058-014-0474-y. PubMed PMID: 25857409; PubMed Central PMCID:

PMC4352262.

31: Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM,

Clericuzio CL, Cormier-Daire V, Cushing T, Flinter F, Jacquemont ML, Joss S,

Kinning E, Lynch SA, Magee A, McConnell V, Medeira A, Ozono K, Patton M, Rankin

J, Shears D, Simon M, Splitt M, Strenger V, Stuurman K, Taylor C, Titheradge H,

Van Maldergem L, Temple IK, Cole T, Seal S; Childhood Overgrowth Consortium.,

Rahman N. Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.

Am J Med Genet A. 2013 Dec;161A(12):2972-80. doi: 10.1002/ajmg.a.36229. Epub 2013

Nov 8. PubMed PMID: 24214728.

32: Rattenberry E, Vialard L, Yeung A, Bair H, McKay K, Jafri M, Canham N, Cole

TR, Denes J, Hodgson SV, Irving R, Izatt L, Korbonits M, Kumar AV, Lalloo F,

Morrison PJ, Woodward ER, Macdonald F, Wallis Y, Maher ER. A comprehensive next

generation sequencing-based genetic testing strategy to improve diagnosis of

inherited pheochromocytoma and paraganglioma. J Clin Endocrinol Metab. 2013

Jul;98(7):E1248-56. doi: 10.1210/jc.2013-1319. Epub 2013 May 10. PubMed PMID:

23666964.

33: Mavaddat N, Peock S, Frost D, Ellis S, Platte R, Fineberg E, Evans DG, Izatt

L, Eeles RA, Adlard J, Davidson R, Eccles D, Cole T, Cook J, Brewer C,

Tischkowitz M, Douglas F, Hodgson S, Walker L, Porteous ME, Morrison PJ, Side LE,

Kennedy MJ, Houghton C, Donaldson A, Rogers MT, Dorkins H, Miedzybrodzka Z,

Gregory H, Eason J, Barwell J, McCann E, Murray A, Antoniou AC, Easton DF;

EMBRACE.. Cancer risks for BRCA1 and BRCA2 mutation carriers: results from

prospective analysis of EMBRACE. J Natl Cancer Inst. 2013 Jun 5;105(11):812-22.

doi: 10.1093/jnci/djt095. Epub 2013 Apr 29. PubMed PMID: 23628597.

34: Castro E, Goh C, Olmos D, Saunders E, Leongamornlert D, Tymrakiewicz M,

Mahmud N, Dadaev T, Govindasami K, Guy M, Sawyer E, Wilkinson R, Ardern-Jones A,

Ellis S, Frost D, Peock S, Evans DG, Tischkowitz M, Cole T, Davidson R, Eccles D,

Brewer C, Douglas F, Porteous ME, Donaldson A, Dorkins H, Izatt L, Cook J,

Hodgson S, Kennedy MJ, Side LE, Eason J, Murray A, Antoniou AC, Easton DF,

Kote-Jarai Z, Eeles R. Germline BRCA mutations are associated with higher risk of

nodal involvement, distant metastasis, and poor survival outcomes in prostate

cancer. J Clin Oncol. 2013 May 10;31(14):1748-57. doi: 10.1200/JCO.2012.43.1882.

Epub 2013 Apr 8. PubMed PMID: 23569316; PubMed Central PMCID: PMC3641696.

35: Couch FJ, Wang X, McGuffog L, Lee A, Olswold C, Kuchenbaecker KB, Soucy P,

Fredericksen Z, Barrowdale D, Dennis J, Gaudet MM, Dicks E, Kosel M, Healey S,

Sinilnikova OM, Lee A, Bacot F, Vincent D, Hogervorst FB, Peock S, Stoppa-Lyonnet

D, Jakubowska A; kConFab Investigators., Radice P, Schmutzler RK; SWE-BRCA.,

Domchek SM, Piedmonte M, Singer CF, Friedman E, Thomassen M; Ontario Cancer

Genetics Network., Hansen TV, Neuhausen SL, Szabo CI, Blanco I, Greene MH, Karlan

BY, Garber J, Phelan CM, Weitzel JN, Montagna M, Olah E, Andrulis IL, Godwin AK,

Yannoukakos D, Goldgar DE, Caldes T, Nevanlinna H, Osorio A, Terry MB, Daly MB,

van Rensburg EJ, Hamann U, Ramus SJ, Toland AE, Caligo MA, Olopade OI, Tung N,

Claes K, Beattie MS, Southey MC, Imyanitov EN, Tischkowitz M, Janavicius R, John

EM, Kwong A, Diez O, Balmaña J, Barkardottir RB, Arun BK, Rennert G, Teo SH, Ganz

PA, Campbell I, van der Hout AH, van Deurzen CH, Seynaeve C, Gómez Garcia EB, van

Leeuwen FE, Meijers-Heijboer HE, Gille JJ, Ausems MG, Blok MJ, Ligtenberg MJ,

Rookus MA, Devilee P, Verhoef S, van Os TA, Wijnen JT; HEBON.; EMBRACE., Frost D,

Ellis S, Fineberg E, Platte R, Evans DG, Izatt L, Eeles RA, Adlard J, Eccles DM,

Cook J, Brewer C, Douglas F, Hodgson S, Morrison PJ, Side LE, Donaldson A,

Houghton C, Rogers MT, Dorkins H, Eason J, Gregory H, McCann E, Murray A,

Calender A, Hardouin A, Berthet P, Delnatte C, Nogues C, Lasset C, Houdayer C,

Leroux D, Rouleau E, Prieur F, Damiola F, Sobol H, Coupier I, Venat-Bouvet L,

Castera L, Gauthier-Villars M, Léoné M, Pujol P, Mazoyer S, Bignon YJ; GEMO Study

Collaborators., Złowocka-Perłowska E, Gronwald J, Lubinski J, Durda K, Jaworska

K, Huzarski T, Spurdle AB, Viel A, Peissel B, Bonanni B, Melloni G, Ottini L,

Papi L, Varesco L, Tibiletti MG, Peterlongo P, Volorio S, Manoukian S, Pensotti

V, Arnold N, Engel C, Deissler H, Gadzicki D, Gehrig A, Kast K, Rhiem K, Meindl

A, Niederacher D, Ditsch N, Plendl H, Preisler-Adams S, Engert S, Sutter C,

Varon-Mateeva R, Wappenschmidt B, Weber BH, Arver B, Stenmark-Askmalm M, Loman N,

Rosenquist R, Einbeigi Z, Nathanson KL, Rebbeck TR, Blank SV, Cohn DE, Rodriguez

GC, Small L, Friedlander M, Bae-Jump VL, Fink-Retter A, Rappaport C,

Gschwantler-Kaulich D, Pfeiler G, Tea MK, Lindor NM, Kaufman B, Shimon Paluch S,

Laitman Y, Skytte AB, Gerdes AM, Pedersen IS, Moeller ST, Kruse TA, Jensen UB,

Vijai J, Sarrel K, Robson M, Kauff N, Mulligan AM, Glendon G, Ozcelik H,

Ejlertsen B, Nielsen FC, Jønson L, Andersen MK, Ding YC, Steele L, Foretova L,

Teulé A, Lazaro C, Brunet J, Pujana MA, Mai PL, Loud JT, Walsh C, Lester J,

Orsulic S, Narod SA, Herzog J, Sand SR, Tognazzo S, Agata S, Vaszko T, Weaver J,

Stavropoulou AV, Buys SS, Romero A, de la Hoya M, Aittomäki K, Muranen TA, Duran

M, Chung WK, Lasa A, Dorfling CM, Miron A; BCFR., Benitez J, Senter L, Huo D,

Chan SB, Sokolenko AP, Chiquette J, Tihomirova L, Friebel TM, Agnarsson BA, Lu

KH, Lejbkowicz F, James PA, Hall P, Dunning AM, Tessier D, Cunningham J, Slager

SL, Wang C, Hart S, Stevens K, Simard J, Pastinen T, Pankratz VS, Offit K, Easton

DF, Chenevix-Trench G, Antoniou AC; CIMBA.. Genome-wide association study in

BRCA1 mutation carriers identifies novel loci associated with breast and ovarian

cancer risk. PLoS Genet. 2013;9(3):e1003212. doi: 10.1371/journal.pgen.1003212.

Epub 2013 Mar 27. PubMed PMID: 23544013; PubMed Central PMCID: PMC3609646.

36: Grey W, Izatt L, Sahraoui W, Ng YM, Ogilvie C, Hulse A, Tse E, Holic R, Yu V.

Deficiency of the cyclin-dependent kinase inhibitor, CDKN1B, results in

overgrowth and neurodevelopmental delay. Hum Mutat. 2013 Jun;34(6):864-8. doi:

10.1002/humu.22314. Epub 2013 Apr 12. PubMed PMID: 23505216; PubMed Central

PMCID: PMC3708111.

37: Twigg SR, Vorgia E, McGowan SJ, Peraki I, Fenwick AL, Sharma VP, Allegra M,

Zaragkoulias A, Sadighi Akha E, Knight SJ, Lord H, Lester T, Izatt L, Lampe AK,

Mohammed SN, Stewart FJ, Verloes A, Wilson LC, Healy C, Sharpe PT, Hammond P,

Hughes J, Taylor S, Johnson D, Wall SA, Mavrothalassitis G, Wilkie AO. Reduced

dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2

signaling to regulation of osteogenesis. Nat Genet. 2013 Mar;45(3):308-13. doi:

10.1038/ng.2539. Epub 2013 Jan 27. PubMed PMID: 23354439; PubMed Central PMCID:

PMC3683605.

38: Makrythanasis P, van Bon BW, Steehouwer M, Rodríguez-Santiago B, Simpson M,

Dias P, Anderlid BM, Arts P, Bhat M, Augello B, Biamino E, Bongers EM, Del Campo

M, Cordeiro I, Cueto-González AM, Cuscó I, Deshpande C, Frysira E, Izatt L,

Flores R, Galán E, Gener B, Gilissen C, Granneman SM, Hoyer J, Yntema HG, Kets

CM, Koolen DA, Marcelis Cl, Medeira A, Micale L, Mohammed S, de Munnik SA,

Nordgren A, Psoni S, Reardon W, Revencu N, Roscioli T, Ruiterkamp-Versteeg M,

Santos HG, Schoumans J, Schuurs-Hoeijmakers JH, Silengo MC, Toledo L, Vendrell T,

van der Burgt I, van Lier B, Zweier C, Reymond A, Trembath RC, Perez-Jurado L,

Dupont J, de Vries BB, Brunner HG, Veltman JA, Merla G, Antonarakis SE, Hoischen

A. MLL2 mutation detection in 86 patients with Kabuki syndrome: a

genotype-phenotype study. Clin Genet. 2013 Dec;84(6):539-45. doi:

10.1111/cge.12081. Epub 2013 Apr 26. PubMed PMID: 23320472.

39: Palles C, Cazier JB, Howarth KM, Domingo E, Jones AM, Broderick P, Kemp Z,

Spain SL, Guarino E, Salguero I, Sherborne A, Chubb D, Carvajal-Carmona LG, Ma Y,

Kaur K, Dobbins S, Barclay E, Gorman M, Martin L, Kovac MB, Humphray S; CORGI

Consortium.; WGS500 Consortium., Lucassen A, Holmes CC, Bentley D, Donnelly P,

Taylor J, Petridis C, Roylance R, Sawyer EJ, Kerr DJ, Clark S, Grimes J, Kearsey

SE, Thomas HJ, McVean G, Houlston RS, Tomlinson I. Germline mutations affecting

the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and

carcinomas. Nat Genet. 2013 Feb;45(2):136-44. doi: 10.1038/ng.2503. Epub 2012 Dec

23. Erratum in: Nat Genet. 2013 Jun;45(6):713. Guarino Almeida, Estrella

[corrected to Guarino, Estrella]. PubMed PMID: 23263490; PubMed Central PMCID:

PMC3785128.

40: Ruark E, Snape K, Humburg P, Loveday C, Bajrami I, Brough R, Rodrigues DN,

Renwick A, Seal S, Ramsay E, Duarte Sdel V, Rivas MA, Warren-Perry M, Zachariou

A, Campion-Flora A, Hanks S, Murray A, Ansari Pour N, Douglas J, Gregory L,

Rimmer A, Walker NM, Yang TP, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C,

Brice G, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Eccles D, Evans

DG, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z,

Morrison PJ, Paterson J, Porteous M, Rogers MT, Shanley S, Walker L, Gore M,

Houlston R, Brown MA, Caufield MJ, Deloukas P, McCarthy MI, Todd JA; Breast and

Ovarian Cancer Susceptibility Collaboration.; Wellcome Trust Case Control

Consortium., Turnbull C, Reis-Filho JS, Ashworth A, Antoniou AC, Lord CJ,

Donnelly P, Rahman N. Mosaic PPM1D mutations are associated with predisposition

to breast and ovarian cancer. Nature. 2013 Jan 17;493(7432):406-10. doi:

10.1038/nature11725. Epub 2012 Dec 16. PubMed PMID: 23242139; PubMed Central

PMCID: PMC3759028.

41: Jafri M, Whitworth J, Rattenberry E, Vialard L, Kilby G, Kumar AV, Izatt L,

Lalloo F, Brennan P, Cook J, Morrison PJ, Canham N, Armstrong R, Brewer C,

Tomkins S, Donaldson A, Barwell J, Cole TR, Atkinson AB, Aylwin S, Ball SG,

Srirangalingam U, Chew SL, Evans DG, Hodgson SV, Irving R, Woodward E, Macdonald

F, Maher ER. Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the

assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and

head and neck paraganglioma. Clin Endocrinol (Oxf). 2013 Jun;78(6):898-906. doi:

10.1111/cen.12074. Epub 2013 Apr 6. PubMed PMID: 23072324.

42: Pijpe A, Andrieu N, Easton DF, Kesminiene A, Cardis E, Noguès C,

Gauthier-Villars M, Lasset C, Fricker JP, Peock S, Frost D, Evans DG, Eeles RA,

Paterson J, Manders P, van Asperen CJ, Ausems MG, Meijers-Heijboer H,

Thierry-Chef I, Hauptmann M, Goldgar D, Rookus MA, van Leeuwen FE; GENEPSO.;

EMBRACE.; HEBON.. Exposure to diagnostic radiation and risk of breast cancer

among carriers of BRCA1/2 mutations: retrospective cohort study (GENE-RAD-RISK).

BMJ. 2012 Sep 6;345:e5660. doi: 10.1136/bmj.e5660. PubMed PMID: 22956590; PubMed


43: Kirchhoff T, Gaudet MM, Antoniou AC, McGuffog L, Humphreys MK, Dunning AM,

Bojesen SE, Nordestgaard BG, Flyger H, Kang D, Yoo KY, Noh DY, Ahn SH, Dork T,

Schürmann P, Karstens JH, Hillemanns P, Couch FJ, Olson J, Vachon C, Wang X, Cox

A, Brock I, Elliott G, Reed MW, Burwinkel B, Meindl A, Brauch H, Hamann U, Ko YD;

GENICA Network., Broeks A, Schmidt MK, Van 't Veer LJ, Braaf LM, Johnson N,

Fletcher O, Gibson L, Peto J, Turnbull C, Seal S, Renwick A, Rahman N, Wu PE, Yu

JC, Hsiung CN, Shen CY, Southey MC, Hopper JL, Hammet F, Van Dorpe T, Dieudonne

AS, Hatse S, Lambrechts D, Andrulis IL, Bogdanova N, Antonenkova N, Rogov JI,

Prokofieva D, Bermisheva M, Khusnutdinova E, van Asperen CJ, Tollenaar RA,

Hooning MJ, Devilee P, Margolin S, Lindblom A, Milne RL, Arias JI, Zamora MP,

Benítez J, Severi G, Baglietto L, Giles GG; kConFab.; AOCS Study Group., Spurdle

AB, Beesley J, Chen X, Holland H, Healey S, Wang-Gohrke S, Chang-Claude J,

Mannermaa A, Kosma VM, Kauppinen J, Kataja V, Agnarsson BA, Caligo MA, Godwin AK,

Nevanlinna H, Heikkinen T, Fredericksen Z, Lindor N, Nathanson KL, Domchek SM;

SWE-BRCA., Loman N, Karlsson P, Stenmark Askmalm M, Melin B, von Wachenfeldt A;

HEBON., Hogervorst FB, Verheus M, Rookus MA, Seynaeve C, Oldenburg RA, Ligtenberg

MJ, Ausems MG, Aalfs CM, Gille HJ, Wijnen JT, Gómez García EB; EMBRACE., Peock S,

Cook M, Oliver CT, Frost D, Luccarini C, Pichert G, Davidson R, Chu C, Eccles D,

Ong KR, Cook J, Douglas F, Hodgson S, Evans DG, Eeles R, Gold B, Pharoah PD,

Offit K, Chenevix-Trench G, Easton DF; BCAC/CIMBA.. Breast cancer risk and

6q22.33: combined results from Breast Cancer Association Consortium and

Consortium of Investigators on Modifiers of BRCA1/2. PLoS One. 2012;7(6):e35706.

doi: 10.1371/journal.pone.0035706. Epub 2012 Jun 29. PubMed PMID: 22768030;


44: Gianetti E, Hall JE, Au MG, Kaiser UB, Quinton R, Stewart JA, Metzger DL,

Pitteloud N, Mericq V, Merino PM, Levitsky LL, Izatt L, Lang-Muritano M, Fujimoto

VY, Dluhy RG, Chase ML, Crowley WF Jr, Plummer L, Seminara SB. When genetic load

does not correlate with phenotypic spectrum: lessons from the GnRH receptor

(GNRHR). J Clin Endocrinol Metab. 2012 Sep;97(9):E1798-807. doi:

10.1210/jc.2012-1264. Epub 2012 Jun 28. PubMed PMID: 22745237; PubMed Central

PMCID: PMC3431570.

45: Ding YC, McGuffog L, Healey S, Friedman E, Laitman Y, Paluch-Shimon S,

Kaufman B; SWE-BRCA., Liljegren A, Lindblom A, Olsson H, Kristoffersson U,

Stenmark-Askmalm M, Melin B, Domchek SM, Nathanson KL, Rebbeck TR, Jakubowska A,

Lubinski J, Jaworska K, Durda K, Gronwald J, Huzarski T, Cybulski C, Byrski T,

Osorio A, Cajal TR, Stavropoulou AV, Benítez J, Hamann U; HEBON., Rookus M, Aalfs

CM, de Lange JL, Meijers-Heijboer HE, Oosterwijk JC, van Asperen CJ, Gómez García

EB, Hoogerbrugge N, Jager A, van der Luijt RB; EMBRACE., Easton DF, Peock S,

Frost D, Ellis SD, Platte R, Fineberg E, Evans DG, Lalloo F, Izatt L, Eeles R,

Adlard J, Davidson R, Eccles D, Cole T, Cook J, Brewer C, Tischkowitz M, Godwin

AK, Pathak H; GEMO Study Collaborators., Stoppa-Lyonnet D, Sinilnikova OM,

Mazoyer S, Barjhoux L, Léoné M, Gauthier-Villars M, Caux-Moncoutier V, de Pauw A,

Hardouin A, Berthet P, Dreyfus H, Ferrer SF, Collonge-Rame MA, Sokolowska J, Buys

S, Daly M, Miron A, Terry MB, Chung W, John EM, Southey M, Goldgar D, Singer CF,

Tea MK, Gschwantler-Kaulich D, Fink-Retter A, Hansen TV, Ejlertsen B, Johannsson

OT, Offit K, Sarrel K, Gaudet MM, Vijai J, Robson M, Piedmonte MR, Andrews L,

Cohn D, DeMars LR, DiSilvestro P, Rodriguez G, Toland AE, Montagna M, Agata S,

Imyanitov E, Isaacs C, Janavicius R, Lazaro C, Blanco I, Ramus SJ, Sucheston L,

Karlan BY, Gross J, Ganz PA, Beattie MS, Schmutzler RK, Wappenschmidt B, Meindl

A, Arnold N, Niederacher D, Preisler-Adams S, Gadzicki D, Varon-Mateeva R,

Deissler H, Gehrig A, Sutter C, Kast K, Nevanlinna H, Aittomäki K, Simard J;

KConFab Investigators., Spurdle AB, Beesley J, Chen X, Tomlinson GE, Weitzel J,

Garber JE, Olopade OI, Rubinstein WS, Tung N, Blum JL, Narod SA, Brummel S,

Gillen DL, Lindor N, Fredericksen Z, Pankratz VS, Couch FJ, Radice P, Peterlongo

P, Greene MH, Loud JT, Mai PL, Andrulis IL, Glendon G, Ozcelik H; OCGN., Gerdes

AM, Thomassen M, Jensen UB, Skytte AB, Caligo MA, Lee A, Chenevix-Trench G,

Antoniou AC, Neuhausen SL; Consortium of Investigators of Modifiers of BRCA1/2

(CIMBA).. A nonsynonymous polymorphism in IRS1 modifies risk of developing breast

and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers.

Cancer Epidemiol Biomarkers Prev. 2012 Aug;21(8):1362-70. Epub 2012 Jun 22.

Erratum in: Cancer Epidemiol Biomarkers Prev. 2012 Dec;21(12):2278. PubMed PMID:


46: Barnes DR, Lee A; EMBRACE Investigators.; kConFab Investigators., Easton DF,

Antoniou AC. Evaluation of association methods for analysing modifiers of disease

risk in carriers of high-risk mutations. Genet Epidemiol. 2012 Apr;36(3):274-91.

doi: 10.1002/gepi.21620. PubMed PMID: 22714938.

47: Jakubowska A, Rozkrut D, Antoniou A, Hamann U, Scott RJ, McGuffog L, Healy S,

Sinilnikova OM, Rennert G, Lejbkowicz F, Flugelman A, Andrulis IL, Glendon G,

Ozcelik H; OCGN., Thomassen M, Paligo M, Aretini P; SWE-BRCA., Kantala J, Aroer

B, von Wachenfeldt A, Liljegren A, Loman N, Herbst K, Kristoffersson U,

Rosenquist R, Karlsson P, Stenmark-Askmalm M, Melin B, Nathanson KL, Domchek SM,

Byrski T, Huzarski T, Gronwald J, Menkiszak J, Cybulski C, Serrano P, Osorio A,

Cajal TR, Tsitlaidou M, Benítez J, Gilbert M; HEBON., Rookus M, Aalfs CM, Kluijt

I, Boessenkool-Pape JL, Meijers-Heijboer HE, Oosterwijk JC, van Asperen CJ, Blok

MJ, Nelen MR, van den Ouweland AM, Seynaeve C, van der Luijt RB, Devilee P;

EMBRACE., Easton DF, Peock S, Frost D, Platte R, Ellis SD, Fineberg E, Evans DG,

Lalloo F, Eeles R, Jacobs C, Adlard J, Davidson R, Eccles D, Cole T, Cook J,

Godwin A, Bove B; GEMO Study Collaborators., Stoppa-Lyonnet D, Caux-Moncoutier V,

Belotti M, Tirapo C, Mazoyer S, Barjhoux L, Boutry-Kryza N, Pujol P, Coupier I,

Peyrat JP, Vennin P, Muller D, Fricker JP, Venat-Bouvet L, Johannsson OT, Isaacs

C, Schmutzler R, Wappenschmidt B, Meindl A, Arnold N, Varon-Mateeva R,

Niederacher D, Sutter C, Deissler H, Preisler-Adams S, Simard J, Soucy P,

Durocher F, Chenevix-Trench G, Beesley J, Chen X; KConFab., Rebbeck T, Couch F,

Wang X, Lindor N, Fredericksen Z, Pankratz VS, Peterlongo P, Bonanni B, Fortuzzi

S, Peissel B, Szabo C, Mai PL, Loud JT, Lubinski J; CIMBA, the Consortium of

Investigators of Modifiers of BRCA1/2-Related Cancer.. Association of PHB 1630

C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in

BRCA1/2 mutation carriers: results from a multicenter study. Br J Cancer. 2012

Jun 5;106(12):2016-24. doi: 10.1038/bjc.2012.160. Epub 2012 May 15. PubMed PMID:


48: Tenorio Jiménez C, Izatt L, Chang F, Moonim MT, Carroll PV, McGowan BM.

Carney Stratakis syndrome in a patient with SDHD mutation. Endocr Pathol. 2012

Sep;23(3):181-6. doi: 10.1007/s12022-012-9213-z. PubMed PMID: 22638655.

49: Maia AT, Antoniou AC, O'Reilly M, Samarajiwa S, Dunning M, Kartsonaki C, Chin

SF, Curtis CN, McGuffog L, Domchek SM; EMBRACE., Easton DF, Peock S, Frost D,

Evans DG, Eeles R, Izatt L, Adlard J, Eccles D; GEMO Study Collaborators.,

Sinilnikova OM, Mazoyer S, Stoppa-Lyonnet D, Gauthier-Villars M, Faivre L,

Venat-Bouvet L, Delnatte C, Nevanlinna H, Couch FJ, Godwin AK, Caligo MA;

SWE-BRCA., Barkardottir RB; kConFab Investigators., Chen X, Beesley J, Healey S,

Caldas C, Chenevix-Trench G, Ponder BA. Effects of BRCA2 cis-regulation in normal

breast and cancer risk amongst BRCA2 mutation carriers. Breast Cancer Res. 2012

Apr 18;14(2):R63. PubMed PMID: 22513257; PubMed Central PMCID: PMC3446398.

50: Robertson L, Hanson H, Seal S, Warren-Perry M, Hughes D, Howell I, Turnbull

C, Houlston R, Shanley S, Butler S, Evans DG, Ross G, Eccles D, Tutt A, Rahman N;

TNT Trial TMG.; BCSC (UK).. BRCA1 testing should be offered to individuals with

triple-negative breast cancer diagnosed below 50 years. Br J Cancer. 2012 Mar

13;106(6):1234-8. doi: 10.1038/bjc.2012.31. Epub 2012 Feb 14. PubMed PMID:


51: Ramus SJ, Antoniou AC, Kuchenbaecker KB, Soucy P, Beesley J, Chen X, McGuffog

L, Sinilnikova OM, Healey S, Barrowdale D, Lee A, Thomassen M, Gerdes AM, Kruse

TA, Jensen UB, Skytte AB, Caligo MA, Liljegren A, Lindblom A, Olsson H,

Kristoffersson U, Stenmark-Askmalm M, Melin B; SWE-BRCA., Domchek SM, Nathanson

KL, Rebbeck TR, Jakubowska A, Lubinski J, Jaworska K, Durda K, Złowocka E,

Gronwald J, Huzarski T, Byrski T, Cybulski C, Toloczko-Grabarek A, Osorio A,

Benitez J, Duran M, Tejada MI, Hamann U, Rookus M, van Leeuwen FE, Aalfs CM,

Meijers-Heijboer HE, van Asperen CJ, van Roozendaal KE, Hoogerbrugge N, Collée

JM, Kriege M, van der Luijt RB; HEBON.; EMBRACE., Peock S, Frost D, Ellis SD,

Platte R, Fineberg E, Evans DG, Lalloo F, Jacobs C, Eeles R, Adlard J, Davidson

R, Eccles D, Cole T, Cook J, Paterson J, Douglas F, Brewer C, Hodgson S, Morrison

PJ, Walker L, Porteous ME, Kennedy MJ, Pathak H, Godwin AK, Stoppa-Lyonnet D,

Caux-Moncoutier V, de Pauw A, Gauthier-Villars M, Mazoyer S, Léoné M, Calender A,

Lasset C, Bonadona V, Hardouin A, Berthet P, Bignon YJ, Uhrhammer N, Faivre L,

Loustalot C; GEMO., Buys S, Daly M, Miron A, Terry MB, Chung WK, John EM, Southey

M, Goldgar D, Singer CF, Tea MK, Pfeiler G, Fink-Retter A, Hansen Tv, Ejlertsen

B, Johannsson OT, Offit K, Kirchhoff T, Gaudet MM, Vijai J, Robson M, Piedmonte

M, Phillips KA, Van Le L, Hoffman JS, Ewart Toland A, Montagna M, Tognazzo S,

Imyanitov E, Issacs C, Janavicius R, Lazaro C, Blanco I, Tornero E, Navarro M,

Moysich KB, Karlan BY, Gross J, Olah E, Vaszko T, Teo SH, Ganz PA, Beattie MS,

Dorfling CM, van Rensburg EJ, Diez O, Kwong A, Schmutzler RK, Wappenschmidt B,

Engel C, Meindl A, Ditsch N, Arnold N, Heidemann S, Niederacher D, Preisler-Adams

S, Gadzicki D, Varon-Mateeva R, Deissler H, Gehrig A, Sutter C, Kast K, Fiebig B,

Schäfer D, Caldes T, de la Hoya M, Nevanlinna H, Aittomäki K, Plante M, Spurdle

AB; kConFab., Neuhausen SL, Ding YC, Wang X, Lindor N, Fredericksen Z, Pankratz

VS, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Bonanni B, Bernard L,

Dolcetti R, Papi L, Ottini L, Radice P, Greene MH, Mai PL, Andrulis IL, Glendon

G, Ozcelik H; OCGN., Pharoah PD, Gayther SA, Simard J, Easton DF, Couch FJ,

Chenevix-Trench G; Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)..

Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and

BRCA2 mutation carriers. Hum Mutat. 2012 Apr;33(4):690-702. doi:

10.1002/humu.22025. Epub 2012 Feb 14. PubMed PMID: 22253144; PubMed Central

PMCID: PMC3458423.

52: Bachmann-Gagescu R, Ishak GE, Dempsey JC, Adkins J, O'Day D, Phelps IG,

Gunay-Aygun M, Kline AD, Szczaluba K, Martorell L, Alswaid A, Alrasheed S, Pai S,

Izatt L, Ronan A, Parisi MA, Mefford H, Glass I, Doherty D. Genotype-phenotype

correlation in CC2D2A-related Joubert syndrome reveals an association with

ventriculomegaly and seizures. J Med Genet. 2012 Feb;49(2):126-37. doi:

10.1136/jmedgenet-2011-100552. PubMed PMID: 22241855.

53: Tatton-Brown K, Hanks S, Ruark E, Zachariou A, Duarte Sdel V, Ramsay E, Snape

K, Murray A, Perdeaux ER, Seal S, Loveday C, Banka S, Clericuzio C, Flinter F,

Magee A, McConnell V, Patton M, Raith W, Rankin J, Splitt M, Strenger V, Taylor

C, Wheeler P, Temple KI, Cole T; Childhood Overgrowth Collaboration., Douglas J,

Rahman N. Germline mutations in the oncogene EZH2 cause Weaver syndrome and

increased human height. Oncotarget. 2011 Dec;2(12):1127-33. PubMed PMID:


54: Byrd PJ, Srinivasan V, Last JI, Smith A, Biggs P, Carney EF, Exley A, Abson

C, Stewart GS, Izatt L, Taylor AM. Severe reaction to radiotherapy for breast

cancer as the presenting feature of ataxia telangiectasia. Br J Cancer. 2012 Jan

17;106(2):262-8. doi: 10.1038/bjc.2011.534. Epub 2011 Dec 6. PubMed PMID:


55: Mavaddat N, Barrowdale D, Andrulis IL, Domchek SM, Eccles D, Nevanlinna H,

Ramus SJ, Spurdle A, Robson M, Sherman M, Mulligan AM, Couch FJ, Engel C,

McGuffog L, Healey S, Sinilnikova OM, Southey MC, Terry MB, Goldgar D, O'Malley

F, John EM, Janavicius R, Tihomirova L, Hansen TV, Nielsen FC, Osorio A,

Stavropoulou A, Benítez J, Manoukian S, Peissel B, Barile M, Volorio S, Pasini B,

Dolcetti R, Putignano AL, Ottini L, Radice P, Hamann U, Rashid MU, Hogervorst FB,

Kriege M, van der Luijt RB; HEBON., Peock S, Frost D, Evans DG, Brewer C, Walker

L, Rogers MT, Side LE, Houghton C; EMBRACE., Weaver J, Godwin AK, Schmutzler RK,

Wappenschmidt B, Meindl A, Kast K, Arnold N, Niederacher D, Sutter C, Deissler H,

Gadzicki D, Preisler-Adams S, Varon-Mateeva R, Schönbuchner I, Gevensleben H,

Stoppa-Lyonnet D, Belotti M, Barjhoux L; GEMO Study Collaborators., Isaacs C,

Peshkin BN, Caldes T, de la Hoya M, Cañadas C, Heikkinen T, Heikkilä P, Aittomäki

K, Blanco I, Lazaro C, Brunet J, Agnarsson BA, Arason A, Barkardottir RB, Dumont

M, Simard J, Montagna M, Agata S, D'Andrea E, Yan M, Fox S; kConFab

Investigators., Rebbeck TR, Rubinstein W, Tung N, Garber JE, Wang X, Fredericksen

Z, Pankratz VS, Lindor NM, Szabo C, Offit K, Sakr R, Gaudet MM, Singer CF, Tea

MK, Rappaport C, Mai PL, Greene MH, Sokolenko A, Imyanitov E, Toland AE, Senter

L, Sweet K, Thomassen M, Gerdes AM, Kruse T, Caligo M, Aretini P, Rantala J, von

Wachenfeld A, Henriksson K; SWE-BRCA Collaborators., Steele L, Neuhausen SL,

Nussbaum R, Beattie M, Odunsi K, Sucheston L, Gayther SA, Nathanson K, Gross J,

Walsh C, Karlan B, Chenevix-Trench G, Easton DF, Antoniou AC; Consortium of

Investigators of Modifiers of BRCA1/2.. Pathology of breast and ovarian cancers

among BRCA1 and BRCA2 mutation carriers: results from the Consortium of

Investigators of Modifiers of BRCA1/2 (CIMBA). Cancer Epidemiol Biomarkers Prev.

2012 Jan;21(1):134-47. doi: 10.1158/1055-9965.EPI-11-0775. Epub 2011 Dec 5.


56: Firth C, Jacobs C, Evison M, Pichert G, Izatt L, Hunter MS. Novel one-stop

multidisciplinary follow-up clinic for BRCA1/2 carriers: patient satisfaction and

decision making. Psychooncology. 2011 Dec;20(12):1301-8. doi: 10.1002/pon.1846.

Epub 2010 Oct 3. PubMed PMID: 22114045.

57: Maxwell CA, Benítez J, Gómez-Baldó L, Osorio A, Bonifaci N, Fernández-Ramires

R, Costes SV, Guinó E, Chen H, Evans GJ, Mohan P, Català I, Petit A, Aguilar H,

Villanueva A, Aytes A, Serra-Musach J, Rennert G, Lejbkowicz F, Peterlongo P,

Manoukian S, Peissel B, Ripamonti CB, Bonanni B, Viel A, Allavena A, Bernard L,

Radice P, Friedman E, Kaufman B, Laitman Y, Dubrovsky M, Milgrom R, Jakubowska A,

Cybulski C, Gorski B, Jaworska K, Durda K, Sukiennicki G, Lubiński J, Shugart YY,

Domchek SM, Letrero R, Weber BL, Hogervorst FB, Rookus MA, Collee JM, Devilee P,

Ligtenberg MJ, Luijt RB, Aalfs CM, Waisfisz Q, Wijnen J, Roozendaal CE; HEBON.;

EMBRACE., Easton DF, Peock S, Cook M, Oliver C, Frost D, Harrington P, Evans DG,

Lalloo F, Eeles R, Izatt L, Chu C, Eccles D, Douglas F, Brewer C, Nevanlinna H,

Heikkinen T, Couch FJ, Lindor NM, Wang X, Godwin AK, Caligo MA, Lombardi G, Loman

N, Karlsson P, Ehrencrona H, Wachenfeldt Av; SWE-BRCA., Barkardottir RB, Hamann

U, Rashid MU, Lasa A, Caldés T, Andrés R, Schmitt M, Assmann V, Stevens K, Offit

K, Curado J, Tilgner H, Guigó R, Aiza G, Brunet J, Castellsagué J, Martrat G,

Urruticoechea A, Blanco I, Tihomirova L, Goldgar DE, Buys S, John EM, Miron A,

Southey M, Daly MB; BCFR., Schmutzler RK, Wappenschmidt B, Meindl A, Arnold N,

Deissler H, Varon-Mateeva R, Sutter C, Niederacher D, Imyamitov E, Sinilnikova

OM, Stoppa-Lyonne D, Mazoyer S, Verny-Pierre C, Castera L, de Pauw A, Bignon YJ,

Uhrhammer N, Peyrat JP, Vennin P, Fert Ferrer S, Collonge-Rame MA, Mortemousque

I; GEMO Study Collaborators., Spurdle AB, Beesley J, Chen X, Healey S; kConFab.,

Barcellos-Hoff MH, Vidal M, Gruber SB, Lázaro C, Capellá G, McGuffog L, Nathanson

KL, Antoniou AC, Chenevix-Trench G, Fleisch MC, Moreno V, Pujana MA. Interplay

between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may

influence risk of breast cancer. PLoS Biol. 2011 Nov;9(11):e1001199. doi:

10.1371/journal.pbio.1001199. Epub 2011 Nov 15. PubMed PMID: 22110403; PubMed


58: Turnbull C, Seal S, Renwick A, Warren-Perry M, Hughes D, Elliott A, Pernet D,

Peock S, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Brice G, Chapman C,

Cook J, Davidson R, Donaldson A, Douglas F, Greenhalgh L, Henderson A, Izatt L,

Kumar A, Lalloo F, Miedzybrodzka Z, Morrison PJ, Paterson J, Porteous M, Rogers

MT, Shanley S, Walker L; Breast Cancer Susceptibility Collaboration (UK),

EMBRACE., Ahmed M, Eccles D, Evans DG, Donnelly P, Easton DF, Stratton MR, Rahman

N. Gene-gene interactions in breast cancer susceptibility. Hum Mol Genet. 2012

Feb 15;21(4):958-62. doi: 10.1093/hmg/ddr525. Epub 2011 Nov 9. PubMed PMID:


59: Mulligan AM, Couch FJ, Barrowdale D, Domchek SM, Eccles D, Nevanlinna H,

Ramus SJ, Robson M, Sherman M, Spurdle AB, Wappenschmidt B, Lee A, McGuffog L,

Healey S, Sinilnikova OM, Janavicius R, Hansen Tv, Nielsen FC, Ejlertsen B,

Osorio A, Muñoz-Repeto I, Durán M, Godino J, Pertesi M, Benítez J, Peterlongo P,

Manoukian S, Peissel B, Zaffaroni D, Cattaneo E, Bonanni B, Viel A, Pasini B,

Papi L, Ottini L, Savarese A, Bernard L, Radice P, Hamann U, Verheus M,

Meijers-Heijboer HE, Wijnen J, Gómez García EB, Nelen MR, Kets CM, Seynaeve C,

Tilanus-Linthorst MM, van der Luijt RB, van Os T, Rookus M, Frost D, Jones JL,

Evans DG, Lalloo F, Eeles R, Izatt L, Adlard J, Davidson R, Cook J, Donaldson A,

Dorkins H, Gregory H, Eason J, Houghton C, Barwell J, Side LE, McCann E, Murray

A, Peock S, Godwin AK, Schmutzler RK, Rhiem K, Engel C, Meindl A, Ruehl I, Arnold

N, Niederacher D, Sutter C, Deissler H, Gadzicki D, Kast K, Preisler-Adams S,

Varon-Mateeva R, Schoenbuchner I, Fiebig B, Heinritz W, Schäfer D, Gevensleben H,

Caux-Moncoutier V, Fassy-Colcombet M, Cornelis F, Mazoyer S, Léoné M,

Boutry-Kryza N, Hardouin A, Berthet P, Muller D, Fricker JP, Mortemousque I,

Pujol P, Coupier I, Lebrun M, Kientz C, Longy M, Sevenet N, Stoppa-Lyonnet D,

Isaacs C, Caldes T, de la Hoya M, Heikkinen T, Aittomäki K, Blanco I, Lazaro C,

Barkardottir RB, Soucy P, Dumont M, Simard J, Montagna M, Tognazzo S, D'Andrea E,

Fox S, Yan M, Rebbeck T, Olopade O, Weitzel JN, Lynch HT, Ganz PA, Tomlinson GE,

Wang X, Fredericksen Z, Pankratz VS, Lindor NM, Szabo C, Offit K, Sakr R, Gaudet

M, Bhatia J, Kauff N, Singer CF, Tea MK, Gschwantler-Kaulich D, Fink-Retter A,

Mai PL, Greene MH, Imyanitov E, O'Malley FP, Ozcelik H, Glendon G, Toland AE,

Gerdes AM, Thomassen M, Kruse TA, Jensen UB, Skytte AB, Caligo MA, Soller M,

Henriksson K, Wachenfeldt vA, Arver B, Stenmark-Askmalm M, Karlsson P, Ding YC,

Neuhausen SL, Beattie M, Pharoah PD, Moysich KB, Nathanson KL, Karlan BY, Gross

J, John EM, Daly MB, Buys SM, Southey MC, Hopper JL, Terry MB, Chung W, Miron AF,

Goldgar D, Chenevix-Trench G, Easton DF, Andrulis IL, Antoniou AC; Breast Cancer

Family Registry.; EMBRACE.; GEMO Study Collaborators.; HEBON.; kConFab

Investigators.; Ontario Cancer Genetics Network.; SWE-BRCA.; CIMBA.. Common

breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1

and BRCA2 mutation carriers: results from the Consortium of Investigators of

Modifiers of BRCA1/2. Breast Cancer Res. 2011;13(6):R110. doi: 10.1186/bcr3052.

Epub 2011 Nov 2. PubMed PMID: 22053997; PubMed Central PMCID: PMC3326552.

60: Spurdle AB, Healey S, Devereau A, Hogervorst FB, Monteiro AN, Nathanson KL,

Radice P, Stoppa-Lyonnet D, Tavtigian S, Wappenschmidt B, Couch FJ, Goldgar DE;

ENIGMA.. ENIGMA--evidence-based network for the interpretation of germline mutant

alleles: an international initiative to evaluate risk and clinical significance

associated with sequence variation in BRCA1 and BRCA2 genes. Hum Mutat. 2012

Jan;33(1):2-7. doi: 10.1002/humu.21628. Epub 2011 Nov 3. PubMed PMID: 21990146;


61: Cox DG, Simard J, Sinnett D, Hamdi Y, Soucy P, Ouimet M, Barjhoux L,

Verny-Pierre C, McGuffog L, Healey S, Szabo C, Greene MH, Mai PL, Andrulis IL;

Ontario Cancer Genetics Network., Thomassen M, Gerdes AM, Caligo MA, Friedman E,

Laitman Y, Kaufman B, Paluch SS, Borg Å, Karlsson P, Askmalm MS, Bustinza GB;

SWE-BRCA Collaborators., Nathanson KL, Domchek SM, Rebbeck TR, Benítez J, Hamann

U, Rookus MA, van den Ouweland AM, Ausems MG, Aalfs CM, van Asperen CJ, Devilee

P, Gille HJ; HEBON.; EMBRACE., Peock S, Frost D, Evans DG, Eeles R, Izatt L,

Adlard J, Paterson J, Eason J, Godwin AK, Remon MA, Moncoutier V,

Gauthier-Villars M, Lasset C, Giraud S, Hardouin A, Berthet P, Sobol H, Eisinger

F, Bressac de Paillerets B, Caron O, Delnatte C; GEMO Study Collaborators.,

Goldgar D, Miron A, Ozcelik H, Buys S, Southey MC, Terry MB; Breast Cancer Family

Registry., Singer CF, Dressler AC, Tea MK, Hansen TV, Johannsson O, Piedmonte M,

Rodriguez GC, Basil JB, Blank S, Toland AE, Montagna M, Isaacs C, Blanco I,

Gayther SA, Moysich KB, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Ditsch

N, Arnold N, Niederacher D, Sutter C, Gadzicki D, Fiebig B, Caldes T, Laframboise

R, Nevanlinna H, Chen X, Beesley J, Spurdle AB, Neuhausen SL, Ding YC, Couch FJ,

Wang X, Peterlongo P, Manoukian S, Bernard L, Radice P, Easton DF,

Chenevix-Trench G, Antoniou AC, Stoppa-Lyonnet D, Mazoyer S, Sinilnikova OM;

Consortium of Investigators of Modifiers of BRCA1/2.. Common variants of the

BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation

carriers. Hum Mol Genet. 2011 Dec 1;20(23):4732-47. doi: 10.1093/hmg/ddr388. Epub

2011 Sep 2. PubMed PMID: 21890493; PubMed Central PMCID: PMC3733139.

62: Loveday C, Turnbull C, Ramsay E, Hughes D, Ruark E, Frankum JR, Bowden G,

Kalmyrzaev B, Warren-Perry M, Snape K, Adlard JW, Barwell J, Berg J, Brady AF,

Brewer C, Brice G, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F,

Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison

PJ, Paterson J, Porteous M, Rogers MT, Shanley S, Walker L; Breast Cancer

Susceptibility Collaboration (UK)., Eccles D, Evans DG, Renwick A, Seal S, Lord

CJ, Ashworth A, Reis-Filho JS, Antoniou AC, Rahman N. Germline mutations in

RAD51D confer susceptibility to ovarian cancer. Nat Genet. 2011 Aug

7;43(9):879-82. doi: 10.1038/ng.893. PubMed PMID: 21822267; PubMed Central PMCID:

PMC4845885.

63: Reiman A, Srinivasan V, Barone G, Last JI, Wootton LL, Davies EG, Verhagen

MM, Willemsen MA, Weemaes CM, Byrd PJ, Izatt L, Easton DF, Thompson DJ, Taylor

AM. Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial

protective effect of residual ATM kinase activity against childhood tumours. Br J

Cancer. 2011 Aug 9;105(4):586-91. doi: 10.1038/bjc.2011.266. Epub 2011 Jul 26.


64: Im KM, Kirchhoff T, Wang X, Green T, Chow CY, Vijai J, Korn J, Gaudet MM,

Fredericksen Z, Shane Pankratz V, Guiducci C, Crenshaw A, McGuffog L, Kartsonaki

C, Morrison J, Healey S, Sinilnikova OM, Mai PL, Greene MH, Piedmonte M,

Rubinstein WS; HEBON., Hogervorst FB, Rookus MA, Collée JM, Hoogerbrugge N, van

Asperen CJ, Meijers-Heijboer HE, Van Roozendaal CE, Caldes T, Perez-Segura P,

Jakubowska A, Lubinski J, Huzarski T, Blecharz P, Nevanlinna H, Aittomäki K,

Lazaro C, Blanco I, Barkardottir RB, Montagna M, D'Andrea E; kConFab., Devilee P,

Olopade OI, Neuhausen SL, Peissel B, Bonanni B, Peterlongo P, Singer CF, Rennert

G, Lejbkowicz F, Andrulis IL, Glendon G, Ozcelik H; Ontario Cancer Genetics

Network., Toland AE, Caligo MA; SWE-BRCA., Beattie MS, Chan S; UKFOCR., Domchek

SM, Nathanson KL, Rebbeck TR, Phelan C, Narod S, John EM, Hopper JL, Buys SS,

Daly MB, Southey MC, Terry MB, Tung N, Hansen TV, Osorio A, Benitez J, Durán M,

Weitzel JN, Garber J, Hamann U; EMBRACE., Peock S, Cook M, Oliver CT, Frost D,

Platte R, Evans DG, Eeles R, Izatt L, Paterson J, Brewer C, Hodgson S, Morrison

PJ, Porteous M, Walker L, Rogers MT, Side LE, Godwin AK, Schmutzler RK,

Wappenschmidt B, Laitman Y, Meindl A, Deissler H, Varon-Mateeva R, Preisler-Adams

S, Kast K, Venat-Bouvet L, Stoppa-Lyonnet D, Chenevix-Trench G, Easton DF, Klein

RJ, Daly MJ, Friedman E, Dean M, Clark AG, Altshuler DM, Antoniou AC, Couch FJ,

Offit K, Gold B. Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation

carriers. Hum Genet. 2011 Nov;130(5):685-99. doi: 10.1007/s00439-011-1003-z. Epub

2011 May 20. PubMed PMID: 21597964; PubMed Central PMCID: PMC3196382.

65: Antoniou AC, Kartsonaki C, Sinilnikova OM, Soucy P, McGuffog L, Healey S, Lee

A, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Cattaneo E, Barile M,

Pensotti V, Pasini B, Dolcetti R, Giannini G, Putignano AL, Varesco L, Radice P,

Mai PL, Greene MH, Andrulis IL, Glendon G, Ozcelik H, Thomassen M, Gerdes AM,

Kruse TA, Birk Jensen U, Crüger DG, Caligo MA, Laitman Y, Milgrom R, Kaufman B,

Paluch-Shimon S, Friedman E, Loman N, Harbst K, Lindblom A, Arver B, Ehrencrona

H, Melin B; SWE-BRCA., Nathanson KL, Domchek SM, Rebbeck T, Jakubowska A,

Lubinski J, Gronwald J, Huzarski T, Byrski T, Cybulski C, Gorski B, Osorio A,

Ramón y Cajal T, Fostira F, Andrés R, Benitez J, Hamann U, Hogervorst FB, Rookus

MA, Hooning MJ, Nelen MR, van der Luijt RB, van Os TA, van Asperen CJ, Devilee P,

Meijers-Heijboer HE, Gómez Garcia EB; HEBON., Peock S, Cook M, Frost D, Platte R,

Leyland J, Evans DG, Lalloo F, Eeles R, Izatt L, Adlard J, Davidson R, Eccles D,

Ong KR, Cook J, Douglas F, Paterson J, Kennedy MJ, Miedzybrodzka Z; EMBRACE.,

Godwin A, Stoppa-Lyonnet D, Buecher B, Belotti M, Tirapo C, Mazoyer S, Barjhoux

L, Lasset C, Leroux D, Faivre L, Bronner M, Prieur F, Nogues C, Rouleau E, Pujol

P, Coupier I, Frénay M; CEMO Study Collaborators., Hopper JL, Daly MB, Terry MB,

John EM, Buys SS, Yassin Y, Miron A, Goldgar D; Breast Cancer Family Registry.,

Singer CF, Tea MK, Pfeiler G, Dressler AC, Hansen Tv, Jønson L, Ejlertsen B,

Barkardottir RB, Kirchhoff T, Offit K, Piedmonte M, Rodriguez G, Small L, Boggess

J, Blank S, Basil J, Azodi M, Toland AE, Montagna M, Tognazzo S, Agata S,

Imyanitov E, Janavicius R, Lazaro C, Blanco I, Pharoah PD, Sucheston L, Karlan

BY, Walsh CS, Olah E, Bozsik A, Teo SH, Seldon JL, Beattie MS, van Rensburg EJ,

Sluiter MD, Diez O, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Ruehl I,

Varon-Mateeva R, Kast K, Deissler H, Niederacher D, Arnold N, Gadzicki D,

Schönbuchner I, Caldes T, de la Hoya M, Nevanlinna H, Aittomäki K, Dumont M,

Chiquette J, Tischkowitz M, Chen X, Beesley J, Spurdle AB; kConFab

investigators., Neuhausen SL, Chun Ding Y, Fredericksen Z, Wang X, Pankratz VS,

Couch F, Simard J, Easton DF, Chenevix-Trench G; CIMBA.. Common alleles at 6q25.1

and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation

carriers. Hum Mol Genet. 2011 Aug 15;20(16):3304-21. doi: 10.1093/hmg/ddr226.

Epub 2011 May 18. PubMed PMID: 21593217; PubMed Central PMCID: PMC3652640.

66: Ahmed SF, Achermann JC, Arlt W, Balen AH, Conway G, Edwards ZL, Elford S,

Hughes IA, Izatt L, Krone N, Miles HL, O'Toole S, Perry L, Sanders C, Simmonds M,

Wallace AM, Watt A, Willis D. UK guidance on the initial evaluation of an infant

or an adolescent with a suspected disorder of sex development. Clin Endocrinol

(Oxf). 2011 Jul;75(1):12-26. doi: 10.1111/j.1365-2265.2011.04076.x. PubMed PMID:


67: Martrat G, Maxwell CM, Tominaga E, Porta-de-la-Riva M, Bonifaci N,

Gómez-Baldó L, Bogliolo M, Lázaro C, Blanco I, Brunet J, Aguilar H,

Fernández-Rodríguez J, Seal S, Renwick A, Rahman N, Kühl J, Neveling K, Schindler

D, Ramírez MJ, Castellà M, Hernández G; EMBRACE., Easton DF, Peock S, Cook M,

Oliver CT, Frost D, Platte R, Evans DG, Lalloo F, Eeles R, Izatt L, Chu C,

Davidson R, Ong KR, Cook J, Douglas F, Hodgson S, Brewer C, Morrison PJ, Porteous

M, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Roversi G, Barile M, Viel

A, Pasini B, Ottini L, Putignano AL, Savarese A, Bernard L, Radice P, Healey S,

Spurdle A, Chen X, Beesley J; kConFab., Rookus MA, Verhoef S, Tilanus-Linthorst

MA, Vreeswijk MP, Asperen CJ, Bodmer D, Ausems MG, van Os TA, Blok MJ,

Meijers-Heijboer HE, Hogervorst FB; HEBON., Goldgar DE, Buys S, John EM, Miron A,

Southey M, Daly MB; BCFR.; SWE-BRCA., Harbst K, Borg A, Rantala J,

Barbany-Bustinza G, Ehrencrona H, Stenmark-Askmalm M, Kaufman B, Laitman Y,

Milgrom R, Friedman E, Domchek SM, Nathanson KL, Rebbeck TR, Johannsson OT, Couch

FJ, Wang X, Fredericksen Z, Cuadras D, Moreno V, Pientka FK, Depping R, Caldés T,

Osorio A, Benítez J, Bueren J, Heikkinen T, Nevanlinna H, Hamann U, Torres D,

Caligo MA, Godwin AK, Imyanitov EN, Janavicius R; GEMO Study Collaborators.,

Sinilnikova OM, Stoppa-Lyonnet D, Mazoyer S, Verny-Pierre C, Castera L, de Pauw

A, Bignon YJ, Uhrhammer N, Peyrat JP, Vennin P, Ferrer SF, Collonge-Rame MA,

Mortemousque I, McGuffog L, Chenevix-Trench G, Pereira-Smith OM, Antoniou AC,

Cerón J, Tominaga K, Surrallés J, Pujana MA. Exploring the link between MORF4L1

and risk of breast cancer. Breast Cancer Res. 2011 Apr 5;13(2):R40. doi:

10.1186/bcr2862. PubMed PMID: 21466675; PubMed Central PMCID: PMC3219203.

68: Pichert G, Mohammed SN, Ahn JW, Ogilvie CM, Izatt L. Unexpected findings in

cancer predisposition genes detected by array comparative genomic hybridisation:

what are the issues? J Med Genet. 2011 Aug;48(8):535-9. doi:

10.1136/jmg.2010.087593. Epub 2011 Mar 23. PubMed PMID: 21429933.

69: Osorio A, Milne RL, Alonso R, Pita G, Peterlongo P, Teulé A, Nathanson KL,

Domchek SM, Rebbeck T, Lasa A, Konstantopoulou I, Hogervorst FB, Verhoef S, van

Dooren MF, Jager A, Ausems MG, Aalfs CM, van Asperen CJ, Vreeswijk M, Waisfisz Q,

Van Roozendaal CE, Ligtenberg MJ; HEBON.; EMBRACE., Easton DF, Peock S, Cook M,

Oliver CT, Frost D, Curzon B, Evans DG, Lalloo F, Eeles R, Izatt L, Davidson R,

Adlard J, Eccles D, Ong KR, Douglas F, Downing S, Brewer C, Walker L, Nevanlinna

H, Aittomäki K, Couch FJ, Fredericksen Z, Lindor NM, Godwin A, Isaacs C, Caligo

MA, Loman N, Jernström H, Barbany-Bustinza G, Liljegren A, Ehrencrona H,

Stenmark-Askmalm M; Sw E-BRCA., Feliubadaló L, Manoukian S, Peissel B, Zaffaroni

D, Bonanni B, Fortuzzi S, Johannsson OT, Chenevix-Trench G, Chen XC, Beesley J,

Spurdle AB; kConFab., Sinilnikova OM, Healey S, McGuffog L, Antoniou AC, Brunet

J, Radice P, Benítez J; CIMBA.. Evaluation of the XRCC1 gene as a phenotypic

modifier in BRCA1/2 mutation carriers. Results from the consortium of

investigators of modifiers of BRCA1/BRCA2. Br J Cancer. 2011 Apr

12;104(8):1356-61. doi: 10.1038/bjc.2011.91. Epub 2011 Mar 22. PubMed PMID:


70: Spurdle AB, Marquart L, McGuffog L, Healey S, Sinilnikova O, Wan F, Chen X,

Beesley J, Singer CF, Dressler AC, Gschwantler-Kaulich D, Blum JL, Tung N,

Weitzel J, Lynch H, Garber J, Easton DF, Peock S, Cook M, Oliver CT, Frost D,

Conroy D, Evans DG, Lalloo F, Eeles R, Izatt L, Davidson R, Chu C, Eccles D,

Selkirk CG, Daly M, Isaacs C, Stoppa-Lyonnet D, Sinilnikova OM, Buecher B,

Belotti M, Mazoyer S, Barjhoux L, Verny-Pierre C, Lasset C, Dreyfus H, Pujol P,

Collonge-Rame MA; GEMO Study Collaborators., Rookus MA, Verhoef S, Kriege M,

Hoogerbrugge N, Ausems MG, van Os TA, Wijnen J, Devilee P, Meijers-Heijboer HE,

Blok MJ, Heikkinen T, Nevanlinna H, Jakubowska A, Lubinski J, Huzarski T, Byrski

T, Durocher F, Couch FJ, Lindor NM, Wang X, Thomassen M, Domchek S, Nathanson K,

Caligo M, Jernström H, Liljegren A, Ehrencrona H, Karlsson P; SWE-BRCA., Ganz PA,

Olopade OI, Tomlinson G, Neuhausen S, Antoniou AC, Chenevix-Trench G, Rebbeck TR.

Common genetic variation at BARD1 is not associated with breast cancer risk in

BRCA1 or BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev. 2011

May;20(5):1032-8. doi: 10.1158/1055-9965.EPI-10-0909. Epub 2011 Mar 10. PubMed


71: Slade I, Murray A, Hanks S, Kumar A, Walker L, Hargrave D, Douglas J, Stiller

C, Izatt L, Rahman N. Heterogeneity of familial medulloblastoma and contribution

of germline PTCH1 and SUFU mutations to sporadic medulloblastoma. Fam Cancer.

2011 Jun;10(2):337-42. doi: 10.1007/s10689-010-9411-0. PubMed PMID: 21188540.

72: Ramus SJ, Kartsonaki C, Gayther SA, Pharoah PD, Sinilnikova OM, Beesley J,

Chen X, McGuffog L, Healey S, Couch FJ, Wang X, Fredericksen Z, Peterlongo P,

Manoukian S, Peissel B, Zaffaroni D, Roversi G, Barile M, Viel A, Allavena A,

Ottini L, Papi L, Gismondi V, Capra F, Radice P, Greene MH, Mai PL, Andrulis IL,

Glendon G, Ozcelik H; OCGN., Thomassen M, Gerdes AM, Kruse TA, Cruger D, Jensen

UB, Caligo MA, Olsson H, Kristoffersson U, Lindblom A, Arver B, Karlsson P,

Stenmark Askmalm M, Borg A, Neuhausen SL, Ding YC, Nathanson KL, Domchek SM,

Jakubowska A, Lubiński J, Huzarski T, Byrski T, Gronwald J, Górski B, Cybulski C,

Dębniak T, Osorio A, Durán M, Tejada MI, Benítez J, Hamann U, Rookus MA, Verhoef

S, Tilanus-Linthorst MA, Vreeswijk MP, Bodmer D, Ausems MG, van Os TA, Asperen

CJ, Blok MJ, Meijers-Heijboer HE; HEBON.; EMBRACE., Peock S, Cook M, Oliver C,

Frost D, Dunning AM, Evans DG, Eeles R, Pichert G, Cole T, Hodgson S, Brewer C,

Morrison PJ, Porteous M, Kennedy MJ, Rogers MT, Side LE, Donaldson A, Gregory H,

Godwin A, Stoppa-Lyonnet D, Moncoutier V, Castera L, Mazoyer S, Barjhoux L,

Bonadona V, Leroux D, Faivre L, Lidereau R, Nogues C, Bignon YJ, Prieur F,

Collonge-Rame MA, Venat-Bouvet L, Fert-Ferrer S; GEMO Study Collaborators., Miron

A, Buys SS, Hopper JL, Daly MB, John EM, Terry MB, Goldgar D; BCFR., Hansen Tv,

Jønson L, Ejlertsen B, Agnarsson BA, Offit K, Kirchhoff T, Vijai J, Dutra-Clarke

AV, Przybylo JA, Montagna M, Casella C, Imyanitov EN, Janavicius R, Blanco I,

Lázaro C, Moysich KB, Karlan BY, Gross J, Beattie MS, Schmutzler R, Wappenschmidt

B, Meindl A, Ruehl I, Fiebig B, Sutter C, Arnold N, Deissler H, Varon-Mateeva R,

Kast K, Niederacher D, Gadzicki D, Caldes T, de la Hoya M, Nevanlinna H,

Aittomäki K, Simard J, Soucy P; kConFab Investigators., Spurdle AB, Holland H,

Chenevix-Trench G, Easton DF, Antoniou AC; Consortium of Investigators of

Modifiers of BRCA1/2.. Genetic variation at 9p22.2 and ovarian cancer risk for

BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst. 2011 Jan 19;103(2):105-16.

doi: 10.1093/jnci/djq494. Epub 2010 Dec 17. PubMed PMID: 21169536; PubMed Central

PMCID: PMC3107565.

73: Antoniou AC, Beesley J, McGuffog L, Sinilnikova OM, Healey S, Neuhausen SL,

Ding YC, Rebbeck TR, Weitzel JN, Lynch HT, Isaacs C, Ganz PA, Tomlinson G,

Olopade OI, Couch FJ, Wang X, Lindor NM, Pankratz VS, Radice P, Manoukian S,

Peissel B, Zaffaroni D, Barile M, Viel A, Allavena A, Dall'Olio V, Peterlongo P,

Szabo CI, Zikan M, Claes K, Poppe B, Foretova L, Mai PL, Greene MH, Rennert G,

Lejbkowicz F, Glendon G, Ozcelik H, Andrulis IL; Ontario Cancer Genetics

Network., Thomassen M, Gerdes AM, Sunde L, Cruger D, Birk Jensen U, Caligo M,

Friedman E, Kaufman B, Laitman Y, Milgrom R, Dubrovsky M, Cohen S, Borg A,

Jernström H, Lindblom A, Rantala J, Stenmark-Askmalm M, Melin B; SWE-BRCA.,

Nathanson K, Domchek S, Jakubowska A, Lubinski J, Huzarski T, Osorio A, Lasa A,

Durán M, Tejada MI, Godino J, Benitez J, Hamann U, Kriege M, Hoogerbrugge N, van

der Luijt RB, van Asperen CJ, Devilee P, Meijers-Heijboer EJ, Blok MJ, Aalfs CM,

Hogervorst F, Rookus M; HEBON., Cook M, Oliver C, Frost D, Conroy D, Evans DG,

Lalloo F, Pichert G, Davidson R, Cole T, Cook J, Paterson J, Hodgson S, Morrison

PJ, Porteous ME, Walker L, Kennedy MJ, Dorkins H, Peock S; EMBRACE., Godwin AK,

Stoppa-Lyonnet D, de Pauw A, Mazoyer S, Bonadona V, Lasset C, Dreyfus H, Leroux

D, Hardouin A, Berthet P, Faivre L; GEMO., Loustalot C, Noguchi T, Sobol H,

Rouleau E, Nogues C, Frénay M, Vénat-Bouvet L; GEMO., Hopper JL, Daly MB, Terry

MB, John EM, Buys SS, Yassin Y, Miron A, Goldgar D; Breast Cancer Family

Registry., Singer CF, Dressler AC, Gschwantler-Kaulich D, Pfeiler G, Hansen TV,

Jønson L, Agnarsson BA, Kirchhoff T, Offit K, Devlin V, Dutra-Clarke A, Piedmonte

M, Rodriguez GC, Wakeley K, Boggess JF, Basil J, Schwartz PE, Blank SV, Toland

AE, Montagna M, Casella C, Imyanitov E, Tihomirova L, Blanco I, Lazaro C, Ramus

SJ, Sucheston L, Karlan BY, Gross J, Schmutzler R, Wappenschmidt B, Engel C,

Meindl A, Lochmann M, Arnold N, Heidemann S, Varon-Mateeva R, Niederacher D,

Sutter C, Deissler H, Gadzicki D, Preisler-Adams S, Kast K, Schönbuchner I,

Caldes T, de la Hoya M, Aittomäki K, Nevanlinna H, Simard J, Spurdle AB, Holland

H, Chen X; kConFab., Platte R, Chenevix-Trench G, Easton DF; CIMBA.. Common

breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and

BRCA2 mutation carriers: implications for risk prediction. Cancer Res. 2010 Dec

1;70(23):9742-54. doi: 10.1158/0008-5472.CAN-10-1907. Epub 2010 Nov 30. PubMed


74: Walker LC, Fredericksen ZS, Wang X, Tarrell R, Pankratz VS, Lindor NM,

Beesley J, Healey S, Chen X; kConFab., Stoppa-Lyonnet D, Tirapo C, Giraud S,

Mazoyer S, Muller D, Fricker JP, Delnatte C; GEMO Study Collaborators.,

Schmutzler RK, Wappenschmidt B, Engel C, Schönbuchner I, Deissler H, Meindl A,

Hogervorst FB, Verheus M, Hooning MJ, van den Ouweland AM, Nelen MR, Ausems MG,

Aalfs CM, van Asperen CJ, Devilee P, Gerrits MM, Waisfisz Q; HEBON., Szabo CI;

ModSQuaD., Easton DF, Peock S, Cook M, Oliver CT, Frost D, Harrington P, Evans

DG, Lalloo F, Eeles R, Izatt L, Chu C, Davidson R, Eccles D, Ong KR, Cook J;

EMBRACE., Rebbeck T, Nathanson KL, Domchek SM, Singer CF, Gschwantler-Kaulich D,

Dressler AC, Pfeiler G, Godwin AK, Heikkinen T, Nevanlinna H, Agnarsson BA,

Caligo MA, Olsson H, Kristoffersson U, Liljegren A, Arver B, Karlsson P, Melin B;

SWE-BRCA., Sinilnikova OM, McGuffog L, Antoniou AC, Chenevix-Trench G, Spurdle

AB, Couch FJ. Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2

mutation carriers. Breast Cancer Res. 2010;12(6):R102. doi: 10.1186/bcr2785. Epub

2010 Nov 29. PubMed PMID: 21114847; PubMed Central PMCID: PMC3046447.

75: FH01 collaborative teams.. Mammographic surveillance in women younger than 50

years who have a family history of breast cancer: tumour characteristics and

projected effect on mortality in the prospective, single-arm, FH01 study. Lancet

Oncol. 2010 Dec;11(12):1127-34. doi: 10.1016/S1470-2045(10)70263-1. Epub 2010 Nov

17. PubMed PMID: 21093374.

76: Gaudet MM, Kirchhoff T, Green T, Vijai J, Korn JM, Guiducci C, Segrè AV,

McGee K, McGuffog L, Kartsonaki C, Morrison J, Healey S, Sinilnikova OM,

Stoppa-Lyonnet D, Mazoyer S, Gauthier-Villars M, Sobol H, Longy M, Frenay M, GEMO

Study Collaborators, Hogervorst FB, Rookus MA, Collée JM, Hoogerbrugge N, van

Roozendaal KE; HEBON Study Collaborators., Piedmonte M, Rubinstein W, Nerenstone

S, Van Le L, Blank SV, Caldés T, de la Hoya M, Nevanlinna H, Aittomäki K, Lazaro

C, Blanco I, Arason A, Johannsson OT, Barkardottir RB, Devilee P, Olopade OI,

Neuhausen SL, Wang X, Fredericksen ZS, Peterlongo P, Manoukian S, Barile M, Viel

A, Radice P, Phelan CM, Narod S, Rennert G, Lejbkowicz F, Flugelman A, Andrulis

IL, Glendon G, Ozcelik H; OCGN., Toland AE, Montagna M, D'Andrea E, Friedman E,

Laitman Y, Borg A, Beattie M, Ramus SJ, Domchek SM, Nathanson KL, Rebbeck T,

Spurdle AB, Chen X, Holland H; kConFab., John EM, Hopper JL, Buys SS, Daly MB,

Southey MC, Terry MB, Tung N, Overeem Hansen TV, Nielsen FC, Greene MH, Mai PL,

Osorio A, Durán M, Andres R, Benítez J, Weitzel JN, Garber J, Hamann U; EMBRACE.,

Peock S, Cook M, Oliver C, Frost D, Platte R, Evans DG, Lalloo F, Eeles R, Izatt

L, Walker L, Eason J, Barwell J, Godwin AK, Schmutzler RK, Wappenschmidt B,

Engert S, Arnold N, Gadzicki D, Dean M, Gold B, Klein RJ, Couch FJ,

Chenevix-Trench G, Easton DF, Daly MJ, Antoniou AC, Altshuler DM, Offit K. Common

genetic variants and modification of penetrance of BRCA2-associated breast

cancer. PLoS Genet. 2010 Oct 28;6(10):e1001183. doi:

10.1371/journal.pgen.1001183. Erratum in: PLoS Genet. 2010;6(11). doi:

10.1371/annotation/59ea8540-4e63-4f4a-a79e-f68765fdeac7. Greene, Mark I

[corrected to Greene, Mark H]. PLoS Genet. 2010;6(11). doi:

10.1371/annotation/b28cf02d-7196-4a16-8b36-6562a0b84f75. EMBRACE [added]. PubMed


77: Engel C, Versmold B, Wappenschmidt B, Simard J, Easton DF, Peock S, Cook M,

Oliver C, Frost D, Mayes R, Evans DG, Eeles R, Paterson J, Brewer C;

Epidemiological Study of Familial Breast Cancer (EMBRACE)., McGuffog L, Antoniou

AC, Stoppa-Lyonnet D, Sinilnikova OM, Barjhoux L, Frenay M, Michel C, Leroux D,

Dreyfus H, Toulas C, Gladieff L, Uhrhammer N, Bignon YJ, Meindl A, Arnold N,

Varon-Mateeva R, Niederacher D, Preisler-Adams S, Kast K, Deissler H, Sutter C,

Gadzicki D, Chenevix-Trench G, Spurdle AB, Chen X, Beesley J; Kathleen Cuningham

Foundation Consortium for Research into Familial Breast Cancer (kConFab)., Olsson

H, Kristoffersson U, Ehrencrona H, Liljegren A; Swedish Breast Cancer Study,

Sweden (SWE-BRCA)., van der Luijt RB, van Os TA, van Leeuwen FE; Hereditary

Breast and Ovarian cancer group Netherlands (HEBON)., Domchek SM, Rebbeck TR,

Nathanson KL, Osorio A, Ramón y Cajal T, Konstantopoulou I, Benítez J, Friedman

E, Kaufman B, Laitman Y, Mai PL, Greene MH, Nevanlinna H, Aittomäki K, Szabo CI,

Caldes T, Couch FJ, Andrulis IL, Godwin AK, Hamann U, Schmutzler RK; Consortium

of Investigators of Modifiers of BRCA1/2 (CIMBA).. Association of the variants

CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and

BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev. 2010

Nov;19(11):2859-68. doi: 10.1158/1055-9965.EPI-10-0517. Epub 2010 Oct 26. PubMed


78: Whitaker HC, Kote-Jarai Z, Ross-Adams H, Warren AY, Burge J, George A,

Bancroft E, Jhavar S, Leongamornlert D, Tymrakiewicz M, Saunders E, Page E, Mitra

A, Mitchell G, Lindeman GJ, Evans DG, Blanco I, Mercer C, Rubinstein WS, Clowes

V, Douglas F, Hodgson S, Walker L, Donaldson A, Izatt L, Dorkins H, Male A,

Tucker K, Stapleton A, Lam J, Kirk J, Lilja H, Easton D; IMPACT Study Steering

Committee.; IMPACT Study Collaborators.; UK GPCS Collaborators., Cooper C, Eeles

R, Neal DE. The rs10993994 risk allele for prostate cancer results in clinically

relevant changes in microseminoprotein-beta expression in tissue and urine. PLoS

One. 2010 Oct 13;5(10):e13363. doi: 10.1371/journal.pone.0013363. PubMed PMID:


79: Heliövaara E, Tuupanen S, Ahlsten M, Hodgson S, de Menis E, Kuismin O, Izatt

L, McKinlay Gardner RJ, Gundogdu S, Lucassen A, Arola J, Tuomisto A, Mäkinen M,

Karhu A, Aaltonen LA. No evidence of RET germline mutations in familial pituitary

adenoma. J Mol Endocrinol. 2010 Dec 21;46(1):1-8. doi: 10.1677/JME-10-0052. Print

2011 Feb. PubMed PMID: 20956458.

80: Antoniou AC, Wang X, Fredericksen ZS, McGuffog L, Tarrell R, Sinilnikova OM,

Healey S, Morrison J, Kartsonaki C, Lesnick T, Ghoussaini M, Barrowdale D;

EMBRACE., Peock S, Cook M, Oliver C, Frost D, Eccles D, Evans DG, Eeles R, Izatt

L, Chu C, Douglas F, Paterson J, Stoppa-Lyonnet D, Houdayer C, Mazoyer S, Giraud

S, Lasset C, Remenieras A, Caron O, Hardouin A, Berthet P; GEMO Study

Collaborators., Hogervorst FB, Rookus MA, Jager A, van den Ouweland A,

Hoogerbrugge N, van der Luijt RB, Meijers-Heijboer H, Gómez García EB; HEBON.,

Devilee P, Vreeswijk MP, Lubinski J, Jakubowska A, Gronwald J, Huzarski T, Byrski

T, Górski B, Cybulski C, Spurdle AB, Holland H; kConFab., Goldgar DE, John EM,

Hopper JL, Southey M, Buys SS, Daly MB, Terry MB, Schmutzler RK, Wappenschmidt B,

Engel C, Meindl A, Preisler-Adams S, Arnold N, Niederacher D, Sutter C, Domchek

SM, Nathanson KL, Rebbeck T, Blum JL, Piedmonte M, Rodriguez GC, Wakeley K,

Boggess JF, Basil J, Blank SV, Friedman E, Kaufman B, Laitman Y, Milgrom R,

Andrulis IL, Glendon G, Ozcelik H, Kirchhoff T, Vijai J, Gaudet MM, Altshuler D,

Guiducci C; SWE-BRCA., Loman N, Harbst K, Rantala J, Ehrencrona H, Gerdes AM,

Thomassen M, Sunde L, Peterlongo P, Manoukian S, Bonanni B, Viel A, Radice P,

Caldes T, de la Hoya M, Singer CF, Fink-Retter A, Greene MH, Mai PL, Loud JT,

Guidugli L, Lindor NM, Hansen TV, Nielsen FC, Blanco I, Lazaro C, Garber J, Ramus

SJ, Gayther SA, Phelan C, Narod S, Szabo CI; MOD SQUAD., Benitez J, Osorio A,

Nevanlinna H, Heikkinen T, Caligo MA, Beattie MS, Hamann U, Godwin AK, Montagna

M, Casella C, Neuhausen SL, Karlan BY, Tung N, Toland AE, Weitzel J, Olopade O,

Simard J, Soucy P, Rubinstein WS, Arason A, Rennert G, Martin NG, Montgomery GW,

Chang-Claude J, Flesch-Janys D, Brauch H; GENICA., Severi G, Baglietto L, Cox A,

Cross SS, Miron P, Gerty SM, Tapper W, Yannoukakos D, Fountzilas G, Fasching PA,

Beckmann MW, Dos Santos Silva I, Peto J, Lambrechts D, Paridaens R, Rüdiger T,

Försti A, Winqvist R, Pylkäs K, Diasio RB, Lee AM, Eckel-Passow J, Vachon C,

Blows F, Driver K, Dunning A, Pharoah PP, Offit K, Pankratz VS, Hakonarson H,

Chenevix-Trench G, Easton DF, Couch FJ. A locus on 19p13 modifies risk of breast

cancer in BRCA1 mutation carriers and is associated with hormone

receptor-negative breast cancer in the general population. Nat Genet. 2010

Oct;42(10):885-92. doi: 10.1038/ng.669. Epub 2010 Sep 19. PubMed PMID: 20852631;


81: Mitra AV, Bancroft EK, Barbachano Y, Page EC, Foster CS, Jameson C, Mitchell

G, Lindeman GJ, Stapleton A, Suthers G, Evans DG, Cruger D, Blanco I, Mercer C,

Kirk J, Maehle L, Hodgson S, Walker L, Izatt L, Douglas F, Tucker K, Dorkins H,

Clowes V, Male A, Donaldson A, Brewer C, Doherty R, Bulman B, Osther PJ, Salinas

M, Eccles D, Axcrona K, Jobson I, Newcombe B, Cybulski C, Rubinstein WS, Buys S,

Townshend S, Friedman E, Domchek S, Ramon Y Cajal T, Spigelman A, Teo SH, Nicolai

N, Aaronson N, Ardern-Jones A, Bangma C, Dearnaley D, Eyfjord J, Falconer A,

Grönberg H, Hamdy F, Johannsson O, Khoo V, Kote-Jarai Z, Lilja H, Lubinski J,

Melia J, Moynihan C, Peock S, Rennert G, Schröder F, Sibley P, Suri M, Wilson P,

Bignon YJ, Strom S, Tischkowitz M, Liljegren A, Ilencikova D, Abele A, Kyriacou

K, van Asperen C, Kiemeney L; IMPACT Study Collaborators., Easton DF, Eeles RA.

Targeted prostate cancer screening in men with mutations in BRCA1 and BRCA2

detects aggressive prostate cancer: preliminary analysis of the results of the

IMPACT study. BJU Int. 2011 Jan;107(1):28-39. doi:

10.1111/j.1464-410X.2010.09648.x. Epub 2010 Sep 14. PubMed PMID: 20840664.

82: Schulte KM, Machens A, Fugazzola L, McGregor A, Diaz-Cano S, Izatt L, Aylwin

S, Talat N, Beck-Peccoz P, Dralle H. The clinical spectrum of multiple endocrine

neoplasia type 2a caused by the rare intracellular RET mutation S891A. J Clin

Endocrinol Metab. 2010 Sep;95(9):E92-7. doi: 10.1210/jc.2010-0375. Epub 2010 Jun

16. PubMed PMID: 20554711.

83: Turnbull C, Hines S, Renwick A, Hughes D, Pernet D, Elliott A, Seal S,

Warren-Perry M, Gareth Evans D, Eccles D; Breast Cancer Susceptibility

Collaboration UK., Stratton MR, Rahman N. Mutation and association analysis of

GEN1 in breast cancer susceptibility. Breast Cancer Res Treat. 2010

Nov;124(1):283-8. doi: 10.1007/s10549-010-0949-1. Epub 2010 May 30. PubMed PMID:


84: Wang X, Pankratz VS, Fredericksen Z, Tarrell R, Karaus M, McGuffog L, Pharaoh

PD, Ponder BA, Dunning AM, Peock S, Cook M, Oliver C, Frost D; EMBRACE.,

Sinilnikova OM, Stoppa-Lyonnet D, Mazoyer S, Houdayer C; GEMO., Hogervorst FB,

Hooning MJ, Ligtenberg MJ; HEBON., Spurdle A, Chenevix-Trench G; kConFab.,

Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Domchek SM, Nathanson KL,

Rebbeck TR, Singer CF, Gschwantler-Kaulich D, Dressler C, Fink A, Szabo CI, Zikan

M, Foretova L, Claes K, Thomas G, Hoover RN, Hunter DJ, Chanock SJ, Easton DF,

Antoniou AC, Couch FJ. Common variants associated with breast cancer in

genome-wide association studies are modifiers of breast cancer risk in BRCA1 and

BRCA2 mutation carriers. Hum Mol Genet. 2010 Jul 15;19(14):2886-97. doi:

10.1093/hmg/ddq174. Epub 2010 Apr 23. PubMed PMID: 20418484; PubMed Central

PMCID: PMC2893806.

85: Warwick G, Izatt L, Sawicka E. Renal cancer associated with recurrent

spontaneous pneumothorax in Birt-Hogg-Dubé syndrome: a case report and review of

the literature. J Med Case Rep. 2010 Apr 19;4:106. doi: 10.1186/1752-1947-4-106.


86: Pichert G, Jacobs C, Jacobs I, Menon U, Manchanda R, Johnson M, Hamed H,

Firth C, Evison M, Tutt A, de Silva L, Langman C, Izatt L. Novel one-stop

multidisciplinary follow-up clinic significantly improves cancer risk management

in BRCA1/2 carriers. Fam Cancer. 2010 Sep;9(3):313-9. doi:

10.1007/s10689-010-9333-x. PubMed PMID: 20300867.

87: Frost AR, Böhm SV, Sewduth RN, Josifova D, Ogilvie CM, Izatt L, Roberts RG.

Heterozygous deletion of a 2-Mb region including the dystroglycan gene in a

patient with mild myopathy, facial hypotonia, oral-motor dyspraxia and white

matter abnormalities. Eur J Hum Genet. 2010 Jul;18(7):852-5. doi:

10.1038/ejhg.2010.28. Epub 2010 Mar 17. PubMed PMID: 20234391; PubMed Central

PMCID: PMC2987357.

88: van der Klift HM, Tops CM, Bik EC, Boogaard MW, Borgstein AM, Hansson KB,

Ausems MG, Gomez Garcia E, Green A, Hes FJ, Izatt L, van Hest LP, Alonso AM,

Vriends AH, Wagner A, van Zelst-Stams WA, Vasen HF, Morreau H, Devilee P, Wijnen

JT. Quantification of sequence exchange events between PMS2 and PMS2CL provides a

basis for improved mutation scanning of Lynch syndrome patients. Hum Mutat. 2010

May;31(5):578-87. doi: 10.1002/humu.21229. PubMed PMID: 20186688.

89: Spurdle AB, Fahey P, Chen X, McGuffog L; kConFab., Easton D, Peock S, Cook M;

EMBRACE., Simard J; INHERIT., Rebbeck TR; MAGIC., Antoniou AC, Chenevix-Trench G.

Pooled analysis indicates that the GSTT1 deletion, GSTM1 deletion, and GSTP1

Ile105Val polymorphisms do not modify breast cancer risk in BRCA1 and BRCA2

mutation carriers. Breast Cancer Res Treat. 2010 Jul;122(1):281-5. doi:

10.1007/s10549-009-0601-0. Epub 2009 Nov 18. PubMed PMID: 19921428; PubMed


90: Osorio A, Milne RL, Pita G, Peterlongo P, Heikkinen T, Simard J,

Chenevix-Trench G, Spurdle AB, Beesley J, Chen X, Healey S; KConFab., Neuhausen

SL, Ding YC, Couch FJ, Wang X, Lindor N, Manoukian S, Barile M, Viel A, Tizzoni

L, Szabo CI, Foretova L, Zikan M, Claes K, Greene MH, Mai P, Rennert G,

Lejbkowicz F, Barnett-Griness O, Andrulis IL, Ozcelik H, Weerasooriya N; OCGN.,

Gerdes AM, Thomassen M, Cruger DG, Caligo MA, Friedman E, Kaufman B, Laitman Y,

Cohen S, Kontorovich T, Gershoni-Baruch R, Dagan E, Jernström H, Askmalm MS,

Arver B, Malmer B; SWE-BRCA., Domchek SM, Nathanson KL, Brunet J, Ramón Y Cajal

T, Yannoukakos D, Hamann U; HEBON., Hogervorst FB, Verhoef S, Gómez García EB,

Wijnen JT, van den Ouweland A; EMBRACE., Easton DF, Peock S, Cook M, Oliver CT,

Frost D, Luccarini C, Evans DG, Lalloo F, Eeles R, Pichert G, Cook J, Hodgson S,

Morrison PJ, Douglas F, Godwin AK; GEMO., Sinilnikova OM, Barjhoux L,

Stoppa-Lyonnet D, Moncoutier V, Giraud S, Cassini C, Olivier-Faivre L, Révillion

F, Peyrat JP, Muller D, Fricker JP, Lynch HT, John EM, Buys S, Daly M, Hopper JL,

Terry MB, Miron A, Yassin Y, Goldgar D; Breast Cancer Family Registry., Singer

CF, Gschwantler-Kaulich D, Pfeiler G, Spiess AC, Hansen TV, Johannsson OT,

Kirchhoff T, Offit K, Kosarin K, Piedmonte M, Rodriguez GC, Wakeley K, Boggess

JF, Basil J, Schwartz PE, Blank SV, Toland AE, Montagna M, Casella C, Imyanitov

EN, Allavena A, Schmutzler RK, Versmold B, Engel C, Meindl A, Ditsch N, Arnold N,

Niederacher D, Deissler H, Fiebig B, Varon-Mateeva R, Schaefer D, Froster UG,

Caldes T, de la Hoya M, McGuffog L, Antoniou AC, Nevanlinna H, Radice P, Benítez

J; CMBA.. Evaluation of a candidate breast cancer associated SNP in ERCC4 as a

risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium

of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA). Br J Cancer. 2009 Dec

15;101(12):2048-54. doi: 10.1038/sj.bjc.6605416. Epub 2009 Nov 17. PubMed PMID:


91: Ricketts CJ, Forman JR, Rattenberry E, Bradshaw N, Lalloo F, Izatt L, Cole

TR, Armstrong R, Kumar VK, Morrison PJ, Atkinson AB, Douglas F, Ball SG, Cook J,

Srirangalingam U, Killick P, Kirby G, Aylwin S, Woodward ER, Evans DG, Hodgson

SV, Murday V, Chew SL, Connell JM, Blundell TL, Macdonald F, Maher ER. Tumor

risks and genotype-phenotype-proteotype analysis in 358 patients with germline

mutations in SDHB and SDHD. Hum Mutat. 2010 Jan;31(1):41-51. doi:

10.1002/humu.21136. PubMed PMID: 19802898.

92: Eeles RA, Kote-Jarai Z, Al Olama AA, Giles GG, Guy M, Severi G, Muir K,

Hopper JL, Henderson BE, Haiman CA, Schleutker J, Hamdy FC, Neal DE, Donovan JL,

Stanford JL, Ostrander EA, Ingles SA, John EM, Thibodeau SN, Schaid D, Park JY,

Spurdle A, Clements J, Dickinson JL, Maier C, Vogel W, Dörk T, Rebbeck TR, Cooney

KA, Cannon-Albright L, Chappuis PO, Hutter P, Zeegers M, Kaneva R, Zhang HW, Lu

YJ, Foulkes WD, English DR, Leongamornlert DA, Tymrakiewicz M, Morrison J,

Ardern-Jones AT, Hall AL, O'Brien LT, Wilkinson RA, Saunders EJ, Page EC, Sawyer

EJ, Edwards SM, Dearnaley DP, Horwich A, Huddart RA, Khoo VS, Parker CC, Van As

N, Woodhouse CJ, Thompson A, Christmas T, Ogden C, Cooper CS, Southey MC,

Lophatananon A, Liu JF, Kolonel LN, Le Marchand L, Wahlfors T, Tammela TL,

Auvinen A, Lewis SJ, Cox A, FitzGerald LM, Koopmeiners JS, Karyadi DM, Kwon EM,

Stern MC, Corral R, Joshi AD, Shahabi A, McDonnell SK, Sellers TA, Pow-Sang J,

Chambers S, Aitken J, Gardiner RA, Batra J, Kedda MA, Lose F, Polanowski A,

Patterson B, Serth J, Meyer A, Luedeke M, Stefflova K, Ray AM, Lange EM, Farnham

J, Khan H, Slavov C, Mitkova A, Cao G; UK Genetic Prostate Cancer Study

Collaborators/British Association of Urological Surgeons' Section of Oncology.;

UK ProtecT Study Collaborators.; PRACTICAL Consortium., Easton DF. Identification

of seven new prostate cancer susceptibility loci through a genome-wide

association study. Nat Genet. 2009 Oct;41(10):1116-21. doi: 10.1038/ng.450. Epub

2009 Sep 20. PubMed PMID: 19767753; PubMed Central PMCID: PMC2846760.

93: Al Olama AA, Kote-Jarai Z, Giles GG, Guy M, Morrison J, Severi G,

Leongamornlert DA, Tymrakiewicz M, Jhavar S, Saunders E, Hopper JL, Southey MC,

Muir KR, English DR, Dearnaley DP, Ardern-Jones AT, Hall AL, O'Brien LT,

Wilkinson RA, Sawyer E, Lophatananon A; UK Genetic Prostate Cancer Study

Collaborators/British Association of Urological Surgeons' Section of Oncology.;

UK Prostate testing for cancer and Treatment study (ProtecT Study)

Collaborators., Horwich A, Huddart RA, Khoo VS, Parker CC, Woodhouse CJ, Thompson

A, Christmas T, Ogden C, Cooper C, Donovan JL, Hamdy FC, Neal DE, Eeles RA,

Easton DF. Multiple loci on 8q24 associated with prostate cancer susceptibility.

Nat Genet. 2009 Oct;41(10):1058-60. doi: 10.1038/ng.452. Epub 2009 Sep 20. PubMed

PMID: 19767752.

94: Antoniou AC, Sinilnikova OM, McGuffog L, Healey S, Nevanlinna H, Heikkinen T,

Simard J, Spurdle AB, Beesley J, Chen X; Kathleen Cuningham Foundation Consortium

for Research into Familial Breast Cancer., Neuhausen SL, Ding YC, Couch FJ, Wang

X, Fredericksen Z, Peterlongo P, Peissel B, Bonanni B, Viel A, Bernard L, Radice

P, Szabo CI, Foretova L, Zikan M, Claes K, Greene MH, Mai PL, Rennert G,

Lejbkowicz F, Andrulis IL, Ozcelik H, Glendon G; OCGN., Gerdes AM, Thomassen M,

Sunde L, Caligo MA, Laitman Y, Kontorovich T, Cohen S, Kaufman B, Dagan E, Baruch

RG, Friedman E, Harbst K, Barbany-Bustinza G, Rantala J, Ehrencrona H, Karlsson

P, Domchek SM, Nathanson KL, Osorio A, Blanco I, Lasa A, Benítez J, Hamann U,

Hogervorst FB, Rookus MA, Collee JM, Devilee P, Ligtenberg MJ, van der Luijt RB,

Aalfs CM, Waisfisz Q, Wijnen J, van Roozendaal CE; HEBON., Peock S, Cook M, Frost

D, Oliver C, Platte R, Evans DG, Lalloo F, Eeles R, Izatt L, Davidson R, Chu C,

Eccles D, Cole T, Hodgson S; EMBRACE., Godwin AK, Stoppa-Lyonnet D, Buecher B,

Léoné M, Bressac-de Paillerets B, Remenieras A, Caron O, Lenoir GM, Sevenet N,

Longy M, Ferrer SF, Prieur F; GEMO., Goldgar D, Miron A, John EM, Buys SS, Daly

MB, Hopper JL, Terry MB, Yassin Y; Breast Cancer Family Registry., Singer C,

Gschwantler-Kaulich D, Staudigl C, Hansen Tv, Barkardottir RB, Kirchhoff T, Pal

P, Kosarin K, Offit K, Piedmonte M, Rodriguez GC, Wakeley K, Boggess JF, Basil J,

Schwartz PE, Blank SV, Toland AE, Montagna M, Casella C, Imyanitov EN, Allavena

A, Schmutzler RK, Versmold B, Engel C, Meindl A, Ditsch N, Arnold N, Niederacher

D, Deissler H, Fiebig B, Suttner C, Schönbuchner I, Gadzicki D, Caldes T, de la

Hoya M, Pooley KA, Easton DF, Chenevix-Trench G; CIMBA.. Common variants in LSP1,

2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers. Hum

Mol Genet. 2009 Nov 15;18(22):4442-56. doi: 10.1093/hmg/ddp372. Epub 2009 Aug 5.


95: Johnatty SE, Couch FJ, Fredericksen Z, Tarrell R, Spurdle AB, Beesley J, Chen

X; kConFab Investigators.; AOCS Group.; Swedish BRCA1 and BRCA2 Study

Collaborators., Gschwantler-Kaulich D, Singer CF, Fuerhauser C, Fink-Retter A,

Domchek SM, Nathanson KL, Pankratz VS, Lindor NM, Godwin AK, Caligo MA, Hopper J,

Southey MC, Giles GG, Justenhoven C, Brauch H, Hamann U, Ko YD, Heikkinen T,

Aaltonen K, Aittomäki K, Blomqvist C, Nevanlinna H, Hall P, Czene K, Liu J, Peock

S, Cook M, Platte R, Gareth Evans D, Lalloo F, Eeles R, Pichert G, Eccles D,

Davidson R, Cole T, Cook J, Douglas F, Chu C, Hodgson S, Paterson J, Hogervorst

FB, Rookus MA, Seynaeve C, Wijnen J, Vreeswijk M, Ligtenberg M, van der Luijt RB,

van Os TA, Gille HJ, Blok MJ; HEBON., Issacs C, Humphreys MK, McGuffog L, Healey

S, Sinilnikova O, Antoniou AC, Easton DF, Chenevix-Trench G; Breast Cancer

Association Consortium and Consortium of Investigators of Modifiers of BRCA1/2..

No evidence that GATA3 rs570613 SNP modifies breast cancer risk. Breast Cancer

Res Treat. 2009 Sep;117(2):371-9. doi: 10.1007/s10549-008-0257-1. Epub 2008 Dec

11. PubMed PMID: 19082709; PubMed Central PMCID: PMC2728174.

96: Warwick G, Izatt L, Sawicka E. Familial spontaneous pneumothorax: importance

of screening for renal tumours. Eur Respir J. 2008 Dec;32(6):1672-3. doi:

10.1183/09031936.00126608. PubMed PMID: 19043020.

97: Papaemmanuil E, Carvajal-Carmona L, Sellick GS, Kemp Z, Webb E, Spain S,

Sullivan K, Barclay E, Lubbe S, Jaeger E, Vijayakrishnan J, Broderick P, Gorman

M, Martin L, Lucassen A, Bishop DT, Evans DG, Maher ER, Steinke V, Rahner N,

Schackert HK, Goecke TO, Holinski-Feder E, Propping P, Van Wezel T, Wijnen J,

Cazier JB, Thomas H, Houlston RS, Tomlinson I; CORGI Consortium.. Deciphering the

genetics of hereditary non-syndromic colorectal cancer. Eur J Hum Genet. 2008

Dec;16(12):1477-86. doi: 10.1038/ejhg.2008.129. Epub 2008 Jul 16. PubMed PMID:

18628789.

98: Georgitsi M, Heliövaara E, Paschke R, Kumar AV, Tischkowitz M, Vierimaa O,

Salmela P, Sane T, De Menis E, Cannavò S, Gündogdu S, Lucassen A, Izatt L, Aylwin

S, Bano G, Hodgson S, Koch CA, Karhu A, Aaltonen LA. Large genomic deletions in

AIP in pituitary adenoma predisposition. J Clin Endocrinol Metab. 2008

Oct;93(10):4146-51. doi: 10.1210/jc.2008-1003. Epub 2008 Jul 15. PubMed PMID:

18628514.

99: Spurdle AB, Deans AJ, Duffy D, Goldgar DE, Chen X, Beesley J; kConFaB.,

Easton DF, Antoniou AC, Peock S, Cook M; EMBRACE Study Collaborators., Nathanson

KL, Domchek SM, MacArthur GA, Chenevix-Trench G. No evidence that CDKN1B (p27)

polymorphisms modify breast cancer risk in BRCA1 and BRCA2 mutation carriers.

Breast Cancer Res Treat. 2009 May;115(2):307-13. doi: 10.1007/s10549-008-0083-5.

Epub 2008 Jun 10. PubMed PMID: 18543099.

100: Rebbeck TR, Antoniou AC, Llopis TC, Nevanlinna H, Aittomäki K, Simard J,

Spurdle AB; KConFab., Couch FJ, Pereira LH, Greene MH, Andrulis IL; Ontario

Cancer Genetics Network., Pasche B, Kaklamani V; Breast Cancer Family Registry.,

Hamann U, Szabo C, Peock S, Cook M, Harrington PA, Donaldson A, Male AM, Gardiner

CA, Gregory H, Side LE, Robinson AC, Emmerson L, Ellis I; EMBRACE., Peyrat JP,

Fournier J, Vennin P, Adenis C, Muller D, Fricker JP, Longy M, Sinilnikova OM,

Stoppa-Lyonnet D; GEMO., Schmutzler RK, Versmold B, Engel C, Meindl A, Kast K,

Schaefer D, Froster UG, Chenevix-Trench G, Easton DF. No association of TGFB1

L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a

multi-center cohort study. Breast Cancer Res Treat. 2009 May;115(1):185-92. doi:

10.1007/s10549-008-0064-8. Epub 2008 Jun 4. PubMed PMID: 18523885; PubMed Central

PMCID: PMC2700286.

101: Antoniou AC, Hardy R, Walker L, Evans DG, Shenton A, Eeles R, Shanley S,

Pichert G, Izatt L, Rose S, Douglas F, Eccles D, Morrison PJ, Scott J, Zimmern

RL, Easton DF, Pharoah PD. Predicting the likelihood of carrying a BRCA1 or BRCA2

mutation: validation of BOADICEA, BRCAPRO, IBIS, Myriad and the Manchester

scoring system using data from UK genetics clinics. J Med Genet. 2008

Jul;45(7):425-31. doi: 10.1136/jmg.2007.056556. Epub 2008 Apr 15. PubMed PMID:

18413374.

102: Bhatnagar P, Tetzlaff H, Izatt L, Devlin J, Heaton ND. Variation of a

variation: case report of attenuated familial adenomatous polyposis. HPB

(Oxford). 2006;8(2):155-6. doi: 10.1080/13651820410016624. PubMed PMID: 18333267;


103: Snape K, Izatt L, Ross P, Ellis D, Mann K, O'Grady J. Donor-transmitted

malignancy confirmed by quantitative fluorescence polymerase chain reaction

genotype analysis: a rare indication for liver retransplantation. Liver Transpl.

2008 Feb;14(2):155-8. doi: 10.1002/lt.21347. PubMed PMID: 18236388.

104: Jaeger E, Webb E, Howarth K, Carvajal-Carmona L, Rowan A, Broderick P,

Walther A, Spain S, Pittman A, Kemp Z, Sullivan K, Heinimann K, Lubbe S, Domingo

E, Barclay E, Martin L, Gorman M, Chandler I, Vijayakrishnan J, Wood W,

Papaemmanuil E, Penegar S, Qureshi M; CORGI Consortium., Farrington S, Tenesa A,

Cazier JB, Kerr D, Gray R, Peto J, Dunlop M, Campbell H, Thomas H, Houlston R,

Tomlinson I. Common genetic variants at the CRAC1 (HMPS) locus on chromosome

15q13.3 influence colorectal cancer risk. Nat Genet. 2008 Jan;40(1):26-8. Epub

2007 Dec 16. PubMed PMID: 18084292.

105: Geary J, Sasieni P, Houlston R, Izatt L, Eeles R, Payne SJ, Fisher S,

Hodgson SV. Gene-related cancer spectrum in families with hereditary

non-polyposis colorectal cancer (HNPCC). Fam Cancer. 2008;7(2):163-72. Epub 2007

Oct 16. PubMed PMID: 17939062.

106: Georgitsi M, Raitila A, Karhu A, van der Luijt RB, Aalfs CM, Sane T,

Vierimaa O, Mäkinen MJ, Tuppurainen K, Paschke R, Gimm O, Koch CA, Gündogdu S,

Lucassen A, Tischkowitz M, Izatt L, Aylwin S, Bano G, Hodgson S, De Menis E,

Launonen V, Vahteristo P, Aaltonen LA. Germline CDKN1B/p27Kip1 mutation in

multiple endocrine neoplasia. J Clin Endocrinol Metab. 2007 Aug;92(8):3321-5.

Epub 2007 May 22. PubMed PMID: 17519308.

107: Chang-Claude J, Andrieu N, Rookus M, Brohet R, Antoniou AC, Peock S,

Davidson R, Izatt L, Cole T, Noguès C, Luporsi E, Huiart L, Hoogerbrugge N, Van

Leeuwen FE, Osorio A, Eyfjord J, Radice P, Goldgar DE, Easton DF; Epidemiological

Study of Familial Breast Cancer (EMBRACE).; Gene Etude Prospective Sein Ovaire

(GENEPSO).; Genen Omgeving studie van de werkgroep Hereditiair Borstkanker

Onderzoek Nederland (GEO-HEBON).; International BRCA1/2 Carrier Cohort Study

(IBCCS) collaborators group.. Age at menarche and menopause and breast cancer

risk in the International BRCA1/2 Carrier Cohort Study. Cancer Epidemiol

Biomarkers Prev. 2007 Apr;16(4):740-6. PubMed PMID: 17416765.

108: Locke I, Kote-Jarai Z, Fackler MJ, Bancroft E, Osin P, Nerurkar A, Izatt L,

Pichert G, Gui GP, Eeles RA. Gene promoter hypermethylation in ductal lavage

fluid from healthy BRCA gene mutation carriers and mutation-negative controls.

Breast Cancer Res. 2007;9(1):R20. PubMed PMID: 17324252; PubMed Central PMCID:

PMC1851387.

109: Doherty R, Lubinski J, Manguoglu E, Luleci G, Christie M, Craven P, Bancroft

E, Mitra A, Morgan S, Eeles R; IMPACT steering committee and collaborators..

Short report. The AIDIT and IMPACT conference 2006: Outcomes and future

directions. Hered Cancer Clin Pract. 2007 Mar 15;5(1):53-5. doi:

10.1186/1897-4287-5-1-53. PubMed PMID: 19723350; PubMed Central PMCID:

PMC2736762.

110: Locke I, Kote-Jarai Z, Bancroft E, Bullock S, Jugurnauth S, Osin P, Nerurkar

A, Izatt L, Pichert G, Gui GP, Eeles RA. Loss of heterozygosity at the BRCA1 and

BRCA2 loci detected in ductal lavage fluid from BRCA gene mutation carriers and

controls. Cancer Epidemiol Biomarkers Prev. 2006 Jul;15(7):1399-402. PubMed PMID:

16835343.

111: Mitchell G, Antoniou AC, Warren R, Peock S, Brown J, Davies R, Mattison J,

Cook M, Warsi I, Evans DG, Eccles D, Douglas F, Paterson J, Hodgson S, Izatt L,

Cole T, Burgess L, Eeles R, Easton DF. Mammographic density and breast cancer

risk in BRCA1 and BRCA2 mutation carriers. Cancer Res. 2006 Feb 1;66(3):1866-72.


112: Lovelock PK, Healey S, Au W, Sum EY, Tesoriero A, Wong EM, Hinson S,

Brinkworth R, Bekessy A, Diez O, Izatt L, Solomon E, Jenkins M, Renard H, Hopper

J, Waring P, Tavtigian SV, Goldgar D, Lindeman GJ, Visvader JE, Couch FJ,

Henderson BR, Southey M, Chenevix-Trench G, Spurdle AB, Brown MA; kConFab

Investigators.. Genetic, functional, and histopathological evaluation of two

C-terminal BRCA1 missense variants. J Med Genet. 2006 Jan;43(1):74-83. Epub 2005

May 27. PubMed PMID: 15923272; PubMed Central PMCID: PMC2564506.

113: Johnson V, Lipton LR, Cummings C, Eftekhar Sadat AT, Izatt L, Hodgson SV,

Talbot IC, Thomas HJ, Silver AJ, Tomlinson IP. Analysis of somatic molecular

changes, clinicopathological features, family history, and germline mutations in

colorectal cancer families: evidence for efficient diagnosis of HNPCC and for the

existence of distinct groups of non-HNPCC families. J Med Genet. 2005

Oct;42(10):756-62. Epub 2005 Mar 23. PubMed PMID: 15788729; PubMed Central PMCID:

PMC1735937.

114: Lipton LR, Johnson V, Cummings C, Fisher S, Risby P, Eftekhar Sadat AT,

Cranston T, Izatt L, Sasieni P, Hodgson SV, Thomas HJ, Tomlinson IP. Refining the

Amsterdam Criteria and Bethesda Guidelines: testing algorithms for the prediction

of mismatch repair mutation status in the familial cancer clinic. J Clin Oncol.

2004 Dec 15;22(24):4934-43. Erratum in: J Clin Oncol. 2005 May 20;23(15):3652.


115: Izatt L, Németh AH, Meesaq A, Mills KR, Taylor AM, Shaw CE. Autosomal

recessive spinocerebellar ataxia and peripheral neuropathy with raised

alpha-fetoprotein. J Neurol. 2004 Jul;251(7):805-12. PubMed PMID: 15258781.

116: Moreira MC, Klur S, Watanabe M, Németh AH, Le Ber I, Moniz JC, Tranchant C,

Aubourg P, Tazir M, Schöls L, Pandolfo M, Schulz JB, Pouget J, Calvas P,

Shizuka-Ikeda M, Shoji M, Tanaka M, Izatt L, Shaw CE, M'Zahem A, Dunne E, Bomont

P, Benhassine T, Bouslam N, Stevanin G, Brice A, Guimarães J, Mendonça P, Barbot

C, Coutinho P, Sequeiros J, Dürr A, Warter JM, Koenig M. Senataxin, the ortholog

of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nat Genet. 2004

Mar;36(3):225-7. Epub 2004 Feb 8. PubMed PMID: 14770181.

117: Whittock NV, Izatt L, Mann A, Homfray T, Bennett C, Mansour S, Hurst J,

Fryer A, Saggar AK, Barwell JG, Ellard S, Clayton PT. Novel mutations in X-linked

dominant chondrodysplasia punctata (CDPX2). J Invest Dermatol. 2003

Oct;121(4):939-42. PubMed PMID: 14632217.

118: Whittock NV, Izatt L, Simpson-Dent SL, Becker K, Wakelin SH. Molecular

prenatal diagnosis in a case of an X-linked dominant chondrodysplasia punctata.

Prenat Diagn. 2003 Sep;23(9):701-4. PubMed PMID: 12975777.

119: Ellis D, Greenman J, Hodgson S, McCall S, Lalloo F, Cameron J, Izatt L,

Scott G, Jacobs C, Watts S, Chorley W, Perrett C, Macdermot K, Mohammed S, Evans

G, Mathew CG. Low prevalence of germline BRCA1 mutations in early onset breast

cancer without a family history. J Med Genet. 2000 Oct;37(10):792-4. PubMed PMID:


120: Izatt L, Greenman J, Hodgson S, Ellis D, Watts S, Scott G, Jacobs C,

Liebmann R, Zvelebil MJ, Mathew C, Solomon E. Identification of germline missense

mutations and rare allelic variants in the ATM gene in early-onset breast cancer.

Genes Chromosomes Cancer. 1999 Dec;26(4):286-94. PubMed PMID: 10534763.

121: Izatt L, Vessey C, Hodgson SV, Solomon E. Rapid and efficient ATM mutation

detection by fluorescent chemical cleavage of mismatch: identification of four

novel mutations. Eur J Hum Genet. 1999 Apr;7(3):310-20. PubMed PMID: 10234507.

122: Greenman J, Mohammed S, Ellis D, Watts S, Scott G, Izatt L, Barnes D,

Solomon E, Hodgson S, Mathew C. Identification of missense and truncating

mutations in the BRCA1 gene in sporadic and familial breast and ovarian cancer.

Genes Chromosomes Cancer. 1998 Mar;21(3):244-9. PubMed PMID: 9523200.

louise izatt publication list 1998- 2017 - guy's and st … r, steele l, ding yc, neuhausen sl,...

Documents