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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Main Authors: Priscila Falagan-Lotsch, Marina S. Rodrigues, Viviane Esteves, Roberto Vieira, Luis C. Amendola, Dante Pagnoncelli, Júlio C. Paixão, Claudia V. De Moura Gallo
Format: Article
Language:English
Published: Sociedade Brasileira de Genética 2009-01-01
Series:Genetics and Molecular Biology
Subjects:
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000200008
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spelling 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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