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

• Type: Article in International Scientific Journal
• Date: 2007

Authors

Sandra Costa (Author) Other; Daniela Pinto (Author) Other; Deolinda Pereira (Author) Other; Helena Rodrigues (Author) Other; Jorge Cameselle Teijeiro (Author) Other; Rui Medeiros (Author) ICBAS; Fernando Schmitt (Author) FMUP

Journal

Title: Breast Cancer Research and Treatment

Vol. 103

Pages: 209-217

ISSN: 0167-6806

Publisher: Springer Nature

Indexing

ISI Web of Knowledge - 83 Citations

Scopus - 88 Citations

Scientific classification

FOS: Medical and Health sciences > Clinical medicine

Other information

Authenticus ID: P-004-9J8

DOI: 10.1007/s10549-006-9364-z

Abstract (EN): 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 9