ISI FoundationG. Matullo, P. VineisM. Manuguerra, F. Saletta

DNA repair genes and cancer

Web registry on DNA repair polymorphisms and cancer risk

website www.perseus.isi.it/huge

The format of the database is organized by polymorphism and by study, and the contents are:

- genetic characterization of the polymorphism

- functional data on the physiological and pathological consequences of structural changes in genes and the related protein products (to be implemented)

- design of the studies in detail :

choice of controls

type and stage of disease

covariates

methods for phenotyping/genotyping

- results in detail (Odds Ratios with confidence limits;

disaggregation by gender, age, exposure...)

Future additional features:

It will become possible to prepare meta-analyses and funnel plots

from the website

We are preparing a matrix of phenotype-genotype correlations,

based partly on he literature partly on research in our laboratory

(SNP vs. COMET, HCRA, DNA adduct, 8-OH (d)G)

Example: 3 SNP for XPD, XRCC1, XRCC3 in 634 healthy subjects

from EPIC, and DNA adducts

158517419512532N =

NUMBER OF RISK ALLELES

543210

RA

L (M

EA

N +

- SE

)

20

18

16

14

12

10

8

6

4

2

0

http://www.isi.itISI FOUNDATION, TURIN, ITALY

http://perseus.isi.it/hugeISI FOUNDATION, TURIN, ITALY