Upload File

4. risk increase with a hereditary mutation

1
PREVENTEST™ A good physician treats the disease; A great physician helps the pa3ent to prevent it What is the PREVENTEST? The PREVENTEST, developed by GeneID Advanced Molecular Diagnos3cs, is the first Comprehensive Cancer Risk Assessment test designed to determine your risk of developing up to 8 cancer types. This noninvasive test helps the pa3ent and clinician determine the level of risk for some of the most common solid tumor cancers including Breast, Ovarian, Endometrial, Pancrea3c, Prostate, Skin, Gastric and Colorectal Cancers. Hereditary Cancer Annual Cases in General Popula6on 1 Life6me Risk in General Popula6on 1 Increased Risk Due to Gene6c Muta6on (as high as) Breast ~232,000 12.3% (females) 87% 2 Ovarian ~22,000 1.4% 44% 2 Endometrial (Uterine) ~50,000 2.7% 71% 3 Colorectal ~143,000 4.8% >99% 4 Gastric (Stomach) ~22,000 0.9% 80% 5 Prostate ~239,000 15.3% (males) 44% 6 Pancrea3c ~45,000 1.5% 36% 7 Melanoma (Skin) ~143,000 4.8% 76% 8 REFERENCES: 1. Surveillance, Epidemiology and End Results Program, Na3onal Cancer Ins3tute (seer.cancer.gov) Dec 10, 2013. 2. Ford D, et al. Risks of cancer in BRCA1muta3on carriers. Breast Cancer Linkage Consor3um. Lancet. 1994 343:6925. PMID: 7907678 3. Hendriks YM, et al. Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 muta3ons: impact on counseling and surveillance. Gastroenterology. 2004 127:1725. PMID: 15236168. 4. Burt RW et al. NCCN Clinical Prac3ce Guidelines in Oncology® Colorectal Cancer Screening. V 2.2013 5. Kaurah P, Huntsman DG. Hereditary Diffuse Gastric Cancer. In: Pagon RA, et al., editors. GeneReviews. 2011 6. Cybulski C, et al. A large germline dele3on in the CHEK2 kinase gene is associated with an increased risk of prostate cancer. J Med Genet. 2006b :8636. PMID: 17085682 7. van Lier MG, et al. High cancer risk in PeutzJeghers syndrome: a systema3c review and surveillance recommenda3ons. Am J Gastroenterol. 2010 105:125864. PMID: 20051941 8. Bishop DT, et al. Geographical varia3on in the penetrance of CDKN2A muta3ons for melanoma. J Natl Cancer Inst. 2002 94:894903. PMID: 12072543 Please visit our website at www.PrevenTests.com

Upload: jennifer-gunnarson

Post on 22-Feb-2017

52 views

Category:

Healthcare


1 download

Report

TRANSCRIPT

Page 1: 4. risk increase with a hereditary mutation

PREVENTEST™A  good  physician  treats  the  disease;

A  great  physician  helps  the  pa3ent  to  prevent  it

What  is  the  PREVENTEST?The  PREVENTEST,  developed  by  GeneID  Advanced  Molecular  Diagnos3cs,    is  the  first  Comprehensive  Cancer  Risk  Assessment  test  designed  to  determine  your  risk  of  developing  up  to  8  cancer  types.  This  non-­‐invasive  test  helps  the  pa3ent  and  clinician  determine  the  level  of  risk  for  some  of  the  most  common  solid  tumor  cancers  including  Breast,  Ovarian,  Endometrial,  Pancrea3c,  Prostate,  Skin,  Gastric  and  Colorectal  Cancers.

Hereditary  Cancer

Annual  Cases  in  General  Popula6on1

Life6me  Risk  in  General  Popula6on1

Increased  Risk  Due  to  Gene6c  Muta6on  

(as  high  as)

Breast  ~232,000 12.3%  (females) 87%2

Ovarian ~22,000 1.4% 44%2

Endometrial  (Uterine) ~50,000 2.7% 71%3

Colorectal ~143,000 4.8% >99%4

Gastric  (Stomach) ~22,000 0.9% 80%5

Prostate ~239,000 15.3%  (males) 44%6

Pancrea3c ~45,000 1.5% 36%7

Melanoma  (Skin) ~143,000 4.8% 76%8

REFERENCES:1. Surveillance,  Epidemiology  and  End  Results  Program,  Na3onal  Cancer  Ins3tute  (seer.cancer.gov)  Dec  10,  2013.2. Ford  D,  et  al.  Risks  of  cancer  in  BRCA1-­‐muta3on  carriers.  Breast  Cancer  Linkage  Consor3um.  Lancet.  1994  343:692-­‐5.  PMID:  79076783. Hendriks  YM,  et  al.  Cancer  risk  in  hereditary  nonpolyposis  colorectal  cancer  due  to  MSH6  muta3ons:  impact  on  counseling  and  surveillance.

Gastroenterology.  2004  127:17-­‐25.  PMID:  15236168.4. Burt  RW  et  al.  NCCN  Clinical  Prac3ce  Guidelines  in  Oncology®  Colorectal  Cancer  Screening.  V  2.20135. Kaurah  P,  Huntsman  DG.  Hereditary  Diffuse  Gastric  Cancer.  In:  Pagon  RA,  et  al.,  editors.  GeneReviews.  20116. Cybulski  C,  et  al.  A  large  germline  dele3on  in  the  CHEK2  kinase  gene  is  associated  with  an  increased  risk  of  prostate  cancer.  J  Med  Genet.

2006b  :863-­‐6.  PMID:  170856827. van  Lier  MG,  et  al.  High  cancer  risk  in  Peutz-­‐Jeghers  syndrome:  a  systema3c  review  and  surveillance  recommenda3ons.  Am  J  Gastroenterol.

2010  105:1258-­‐64.  PMID:  200519418. Bishop  DT,  et  al.  Geographical  varia3on  in  the  penetrance  of  CDKN2A  muta3ons  for  melanoma.  J  Natl  Cancer  Inst.  2002  94:894-­‐903.  PMID:  

12072543

Please  visit  our  website  at  www.PrevenTests.com

DEFINING THE GENETIC BASIS OF THREE HEREDITARY ... · affected by a severe autosomal recessive form of neurodevelopmental delay with microcephaly, genetic studies identified mutation

Management of carriers of hereditary predisposition to ... · Ca risk, Br.Ca risk, overall mortality –Prophyllactic radical mastectomy ? –Breast surveillance * *Mutation tronquante

MUTATION JARGON GENE MUTATION = POINT …fire.biol.wwu.edu/trent/trent/13.02.15lecture2.pdf2015/02/13  · 1 MUTATION JARGON GENE MUTATION = POINT MUTATION (scale of mutation is small

Genetic testing and hereditary ovarian cancer · 2019. 12. 19. · increase a woman’s risk of ovarian cancer. However these mutations are very rare. Women carrying a RAD51D mutation

Hereditary Cancer Program · hereditary cancer syndrome, in your family, you may be referred to the Hereditary Cancer Program for more information. What’s hereditary cancer syndrome?

Mutation Patterns Due to Converging Mitochondrial Replication … · 2018-09-25 · Mutation Patterns Due to Converging Mitochondrial Replicatio n and Transcription Increase Lifespan,

QUASI-HEREDITARY ALGEBRAS, EXACT BOREL SUBALGEBRAS, A ... · Every quasi-hereditary algebra is Morita equivalent to a quasi-hereditary algebra A(with corresponding quasi-hereditary

Management of Hereditary Breast Cancer: ASCO-ASTRO-SSO ... · In breast cancer patients with a mutation in a moderate-penetrance breast cancer susceptibility gene, breast conserving

Germ Line Gain of Function with SOS1 Mutation in Hereditary

Distal hereditary motor neuropathy due to BSCL2 mutation ...beat.wolf.home.hefr.ch/documents/BSCL2-Poster_GfH-Graz2015_final.pdf · multifocal motor neuropathy (MMN) due to a unilateral

Novel ACLV1 Mutation Identified in Late Onset Hereditary ...file.scirp.org/pdf/IJOHNS_2016071817013873.pdf · mon and earliest clinical manifestation is epistaxis from telangiectasias

Genetic Disorders Inheritance of Genetic Traits. Mutations Gene mutations can be either inherited from a parent or acquired. A hereditary mutation is

Leber’s Hereditary

Preview Bellringer Key Ideas What Are Hereditary Diseases? Types of Hereditary Diseases Coping with Hereditary Diseases Future Medical Treatment for Hereditary

Hereditary amyloidosis

When bad things happen to good genes: mutation vs. selectionrogers/ant5221/lecture/...When bad things happen to good genes: mutation vs. selection Selection tends to increase the frequencies

Germline Mutation Testing for Hereditary Cancers...• Cancer diagnosed at any age and significant family history • Rare cancer (eg, male breast cancer or ovarian cancer) 3. Individuals

06_20_cancer_age.jpg. Gene Mutation: Origins and Repair Processes GAATTC GTATTC A a Skin cancers from Xeroderma pigmentosum, a recessive hereditary

Hereditary Palmoplantar Keratoderma and Deafness Resulting ... · Hereditary Palmoplantar Keratoderma and Deafness Resulting from Genetic Mutation of Connexin 26 Gap junctions, which

Hereditary pancreatitis

CAPN5 mutation in hereditary uveitis: the R243L mutation increases

NIH Public Access mutation carriers Hum Genetdiposit.ub.edu/dspace/bitstream/2445/124245/1/595977.pdf · Anna Jakubowska, Jan Lubinski, and Tomasz Huzarski International Hereditary

Hereditary Prostate Cancerustoonewyork.org/misc/FHathaway-Genetics.pdf- General population cancer risk Hereditary (5-12%)-Gene Mutation is inherited in family-Significantly increased

Exome Sequencing and Functional Analysis Identifies BANF1 Mutation as the Cause of a Hereditary Progeroid Syndrome Xose S. Puente, Victor Quesada, Fernando

Hereditary Spherocytosis Bethany Zeitler. What Is Hereditary Spherocytosis (HS)?

Hereditary Diseases

Isoform-specific Mutation 4.1 GeneResults Hereditary

research-repository.uwa.edu.au · Web viewHuntington's disease (HD) is a hereditary, progressive neurodegenerative disorder, caused by a single gene mutation on chromosome 4. The

White Seedling: A Pigment Mutation That Affects Seed ...that observed were tongue rolling ability not in fact influenced by hereditary factors. The data are inconsistent, therefore,

Hereditary patterns

GENETIC EPISTASIS BETWEEN TRPC6 MUTATION …GENETIC EPISTASIS BETWEEN TRPC6 MUTATION AND NEPHRIN POLYMORPHISMS IN HEREDITARY FOCAL SEGMENTAL GLOMERULOSCLEROSIS SUN ZI JIN B.Sc., Shandong

 · Anorectal malformation (ARM) Sacral bony defect Pre-sacral mass ? Abnormal separation of the neuroectoderm from the endoderm Hereditary disorder Mutation of HLXB9 located at 7q36

Identification of novel germline mutations in hereditary ...biallelic and 9 monoallelic MYH germline mutation carriers were identified. 1 out of 10 classical polyposis and 6 out of

Leber’s Hereditary Optic Neuropathy with Olivocerebellar ... · mutation, which is characterized as a mutation associated with LHON, is not common in LHON patients, and the signi-ficance

Hereditary Angioedema