XRCC1 gene polymorphisms in a population sample and in women with a family history of breast cancer from Rio de Janeiro (Brazil)
AUTOR(ES)
Falagan-Lotsch, Priscila, Rodrigues, Marina S., Esteves, Viviane, Vieira, Roberto, Amendola, Luis C., Pagnoncelli, Dante, Paixão, Júlio C., Gallo, Claudia V. De Moura
FONTE
Genetics and Molecular Biology
DATA DE PUBLICAÇÃO
2009
RESUMO
The X-ray repair cross-complementing Group1 (XRCC1) gene has been defined as essential in the base excision repair (BER) and single-strand break repair processes. This gene is highly polymorphic, and the most extensively studied genetic changes are in exon 6 (Arg194Trp) and in exon 10 (Arg399Gln). These changes, in conserved protein sites, may alter the base excision repair capacity, increasing the susceptibility to adverse health conditions, including cancer. In the present study, we estimated the frequencies of the XRCC1 gene polymorphisms Arg194Trp and Arg399Gln in healthy individuals and also in women at risk of breast cancer due to family history from Rio de Janeiro. The common genotypes in both positions (194 and 399) were the most frequent in this Brazilian sample. Although the 194Trp variant was overrepresented in women reporting familial cases of breast cancer, no statistically significant differences concerning genotype distribution or intragenic interactions were found between this group and the controls. Thus, in the population analyzed by us, variants Arg194Trp and Arg399Gln did not appear to have any impact on breast cancer susceptibility.
Documentos Relacionados
- TP53 and XRCC1 polymorphisms and breast cancer prognosis: a case-case study
- DNA repair genes XRCC1 and XRCC3 polymorphisms and their relationship with the level of micronuclei in breast cancer patients
- Polymorphisms of the DNA repair genes XRCC1 and XRCC3 in a Brazilian population
- Análise de polimorfismos genéticos de TP53 e XRCC1 e sua associação com as características de casos de câncer de mama
- Association between the c.910A>G genetic variant of the XRCC1 gene and susceptibility to esophageal cancer in the Chinese Han population