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

Patrono, Clarice; Sterpone , Silvia; Testa , Antonella; Verna , Laura; Palma , Valentina; Gentile  , Piercarlo; Cozzi , Renata

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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Identifiers and Pagination:

Year: 2015
Volume: 2
First Page: 25
Last Page: 30
Publisher ID: MEDJ-2-25
DOI: 10.2174/1874220301401010025

Article History:

Received Date: 5/3/2015
Revision Received Date: 15/4/2015
Acceptance Date: 21/3/2015
Electronic publication date: 31/7/2015
Collection year: 2015

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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 (http://creativecommons.org/licenses/by-nc/3.0/) 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: clarice.patrono@enea.it

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.

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RESEARCH ARTICLE

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

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