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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Acknowledgements
The authors would like to thank to Oncology and Surgical Department from S. João Hospital at Porto, to Pathology Departments of the different Hospitals involved. We would like to thank to Imunohemotherapy Department of S. Marcos Hospital at Braga and Dr. Mário João for their helpful assistance in the management of controls. We gratefully acknowledge funding of this work by the FLAD (Fundação Luso-Americana para o Desenvolvimento), by the Minister of Health of Portugal (Comissão de Fomento da Investigacão em Cuidados de Saúde: CFICS-226/01), Astra Zeneca Foundation and Calouste Gulbenkian Foundation. We also gratefully acknowledge for financial support of individual grant for Doctoral degree of the first author to Minister of Science, Technology and Superior Education-FCT (Fundação para a Ciência e Tecnologia: SFRH/BD/9758/2003).
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Costa, S., Pinto, D., Pereira, D. et al. DNA repair polymorphisms might contribute differentially on familial and sporadic breast cancer susceptibility: a study on a Portuguese population. Breast Cancer Res Treat 103, 209–217 (2007). https://doi.org/10.1007/s10549-006-9364-z
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DOI: https://doi.org/10.1007/s10549-006-9364-z