ISI Foundation G. Matullo, P. Vineis M. Manuguerra, F. Saletta DNA repair genes and cancer Web registry on DNA repair polymorphisms and cancer risk website.

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