XRCC1 gene polymorphisms in a population sample and in women with a family history of breast cancer from Rio de Janeiro (Brazil)

Genetics and Molecular Biology

Priscila Falagan-lotsch²  Marina S. Rodrigues²  Viviane Esteves¹  Roberto Vieira¹  Luis C. Amendola¹  Dante Pagnoncelli¹  Júlio C. Paixão¹  Claudia V. De Moura Gallo² 

[1] ,Universidade Estadual do Rio de Janeiro Instituto de Biologia Roberto Alcântara Gomes Departamento de Biologia Celular e GenéticaRio de Janeiro RJ ,Brazil

关键词: XRCC1 gene polymorphisms;    breast cancer susceptibility;    Brazilian population;   

DOI  :  10.1590/S1415-47572009000200008

来源: SciELO

【 摘 要 】

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.

【 授权许可】

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