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Polymorphisms in X-Ray Repair Cross-Complementing Group 1 Gene: Haplotypes, Breast Cancer Risk and Individual Radiosensitivity
, 1
Silvia Sterpone 2
Antonella Testa 1
Laura Verna 3
Valentina Palma 1
Piercarlo Gentile 3
Renata Cozzi 2
Authors Info & Affiliations
Abstract
The aim of this paper is to analyse the role exerted by X-ray repair cross-complementing group 1 (XRCC1) genetic polymorphisms and haplotypes in increasing breast cancer risk and in modulating radiotherapy-induced adverse reactions. An Italian cohort of breast cancer patients and a matching group of healthy controls were genotyped for XRCC1-77T>C, Arg194Trp and Arg399Gln polymorphisms. Our data indicated that polymorphisms at codon 399 and at -77 position of the 5’-untraslated region both contribute to cancer risk. We also showed that the haplotype H3, containing the wild-type allele at codon 194 and the variant alleles at codon 399 and at -77 position is significantly associated with an increased risk of breast cancer. We found no statistical association between XRCC1 SNPs and individual radiosensitivity.
