DNA repair polymorphisms might contribute differentially on familial and sporadic breast cancer susceptibility: a study on a Portuguese population |
| |
Authors: | Sandra Costa Daniela Pinto Deolinda Pereira Helena Rodrigues Jorge Cameselle-Teijeiro Rui Medeiros Fernando Schmitt |
| |
Institution: | (1) ICVS, Life and Health Sciences Research Institute, Health Science School, Minho University, Braga, 4710-057, Portugal;(2) Molecular Oncology Unit, Portuguese Institute of Oncology, Porto, 4200-072, Portugal;(3) Medical Oncology Department, Portuguese Institute of Oncology, Porto, 4200-072, Portugal;(4) Hospital Xeral-Cíes, Vigo, Spain;(5) ICBAS, Abel Salazar Institute for the Biomedical Sciences, Porto, 4099-003, Portugal;(6) Medical Faculty of Porto University and IPATIMUP, Institute of Molecular Pathology and Immunology of the University of Porto, Rua Dr. Roberto Frias s/n, Porto, 4200-465, Portugal |
| |
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. |
| |
Keywords: | DNA repair XRCC1 XRCC3 RAD51 XPD Polymorphisms Familial Sporadic Breast Risk |
本文献已被 PubMed SpringerLink 等数据库收录! |
|