Polymorphisms in X-Ray Repair Cross-Complementing Group 1 Gene: Haplotypes, Breast Cancer Risk and Individual Radiosensitivity

Clarice Patrono*, 1, Silvia Sterpone 2, Antonella Testa 1, Laura Verna 3, Valentina Palma 1, Piercarlo Gentile 3, Renata Cozzi 2
1 Technical Unit of Radiation Biology and Human Health, ENEA Casaccia, Santa Maria di Galeria, Rome, Italy
2 Department of Science, University “Roma TRE”, Rome, Italy
3 Radiation Oncology Unit, S. Pietro Hospital, Rome, Italy

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© Patrono et al.; Licensee Bentham Open.

open-access license: This is an open access article licensed under the terms of the Creative Commons Attribution Non-Commercial License ( which permits unrestricted, non-commercial use, distribution and reproduction in any medium, provided the work is properly cited.

* Address correspondence to this author at the Technical Unit of Radiation Biology and Human Health, ENEA Casaccia, Via Anguillarese, 301, 00123, Santa Maria di Galeria, Rome, Italy; Tel: +390630483112; Fax: +390630486559; E-mail:


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.

Keywords: Breast cancer, haplotype, single-nucleotide polymorphisms, radiosensitivity, X-ray repair cross-complementing group 1 gene.