XRCC1 gene polymorphisms in a population sample and in women with a family history of breast cancer from Rio de Janeiro (Brazil)
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). T...
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doaj-51c537f522b543f8a7e6529e0641bbd62020-11-25T02:38:25ZengSociedade Brasileira de GenéticaGenetics and Molecular Biology1415-47571678-46852009-01-0132225525910.1590/S1415-47572009000200008XRCC1 gene polymorphisms in a population sample and in women with a family history of breast cancer from Rio de Janeiro (Brazil)Priscila Falagan-LotschMarina S. RodriguesViviane EstevesRoberto VieiraLuis C. AmendolaDante PagnoncelliJúlio C. PaixãoClaudia V. De Moura GalloThe 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000200008XRCC1 gene polymorphismsbreast cancer susceptibilityBrazilian population |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Priscila Falagan-Lotsch Marina S. Rodrigues Viviane Esteves Roberto Vieira Luis C. Amendola Dante Pagnoncelli Júlio C. Paixão Claudia V. De Moura Gallo |
spellingShingle |
Priscila Falagan-Lotsch Marina S. Rodrigues Viviane Esteves Roberto Vieira Luis C. Amendola Dante Pagnoncelli Júlio C. Paixão Claudia V. De Moura Gallo 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 XRCC1 gene polymorphisms breast cancer susceptibility Brazilian population |
author_facet |
Priscila Falagan-Lotsch Marina S. Rodrigues Viviane Esteves Roberto Vieira Luis C. Amendola Dante Pagnoncelli Júlio C. Paixão Claudia V. De Moura Gallo |
author_sort |
Priscila Falagan-Lotsch |
title |
XRCC1 gene polymorphisms in a population sample and in women with a family history of breast cancer from Rio de Janeiro (Brazil) |
title_short |
XRCC1 gene polymorphisms in a population sample and in women with a family history of breast cancer from Rio de Janeiro (Brazil) |
title_full |
XRCC1 gene polymorphisms in a population sample and in women with a family history of breast cancer from Rio de Janeiro (Brazil) |
title_fullStr |
XRCC1 gene polymorphisms in a population sample and in women with a family history of breast cancer from Rio de Janeiro (Brazil) |
title_full_unstemmed |
XRCC1 gene polymorphisms in a population sample and in women with a family history of breast cancer from Rio de Janeiro (Brazil) |
title_sort |
xrcc1 gene polymorphisms in a population sample and in women with a family history of breast cancer from rio de janeiro (brazil) |
publisher |
Sociedade Brasileira de Genética |
series |
Genetics and Molecular Biology |
issn |
1415-4757 1678-4685 |
publishDate |
2009-01-01 |
description |
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. |
topic |
XRCC1 gene polymorphisms breast cancer susceptibility Brazilian population |
url |
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000200008 |
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