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01.06.2007 | Epidemiology

DNA repair polymorphisms might contribute differentially on familial and sporadic breast cancer susceptibility: a study on a Portuguese population

verfasst von: Sandra Costa, Daniela Pinto, Deolinda Pereira, Helena Rodrigues, Jorge Cameselle-Teijeiro, Rui Medeiros, Fernando Schmitt

Erschienen in: Breast Cancer Research and Treatment | Ausgabe 2/2007

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Abstract

The purpose of this study was to evaluate the role of polymorphisms in DNA repair genes as genetic indicators of susceptibility to familial and sporadic breast cancer. We analysed DNA samples from 285 breast cancer patients and 442 control subjects, for XRCC1 Arg399Gln, XPD Lys751Gln, RAD51 G135C and XRCC3 Thr241Met polymorphisms using PCR-RFLP. We observed that women carriers of XRCC1 399Gln genotypes and without family history of breast cancer have a protective effect concerning this disease (OR = 0.54 95% CI 0.35–0.84; p = 0.006). Furthermore, we found that carriers of XRCC3 241Met genotypes without FH have an increased susceptibility of breast cancer (OR = 2.21 95% CI 1.42–3.44; p < 0.001). Additionally, we verified an increased risk of breast cancer in women with FH and carrying RAD51 135C genotypes (OR = 2.17 95% CI 1.19–3.98; p = 0.012). Our results suggest XRCC1 Arg399Gln and XRCC3 Thr241Met DNA repair polymorphisms as important biomarkers to sporadic breast cancer susceptibility, as well as, RAD51 G135C polymorphism as a real risk modifier in familial breast cancer cases.

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Titel: DNA repair polymorphisms might contribute differentially on familial and sporadic breast cancer susceptibility: a study on a Portuguese population
verfasst von: Sandra Costa
Daniela Pinto
Deolinda Pereira
Helena Rodrigues
Jorge Cameselle-Teijeiro
Rui Medeiros
Fernando Schmitt
Publikationsdatum: 01.06.2007
Verlag: Kluwer Academic Publishers-Plenum Publishers
Erschienen in: Breast Cancer Research and Treatment / Ausgabe 2/2007
Print ISSN: 0167-6806
Elektronische ISSN: 1573-7217
DOI: https://doi.org/10.1007/s10549-006-9364-z

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