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XRCC1GENE POLYMORPHISMS IN A POPULATION SAMPLE AND IN WOMEN WITH A FAMILY HISTORY OF BREAST CANCER FROM RIO DE JANEIRO (BRAZIL)
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Universidade Estadual do Rio de Janeiro. Instituto de Biologia Roberto Alcântara Gomes. Departamento de Biologia Celular e Genética. Rio de Janeiro, RJ, Brasil.
Universidade Estadual do Rio de Janeiro. Instituto de Biologia Roberto Alcântara Gomes. Departamento de Biologia Celular e Genética. Rio de Janeiro, RJ, Brasil.
Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Departamento de Ginecologia. Rio de Janeiro, RJ, Brasil.
Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Departamento de Ginecologia. Rio de Janeiro, RJ, Brasil.
Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Departamento de Ginecologia. Rio de Janeiro, RJ, Brasil.
Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Departamento de Ginecologia. Rio de Janeiro, RJ, Brasil.
Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Departamento de Biologia Molecular. Rio de Janeiro, RJ, Brasil.
Universidade Estadual do Rio de Janeiro. Instituto de Biologia Roberto Alcântara Gomes. Departamento de Biologia Celular e Genética. Rio de Janeiro, RJ, Brasil.
Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Departamento de Ginecologia. Rio de Janeiro, RJ, Brasil.
Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Departamento de Ginecologia. Rio de Janeiro, RJ, Brasil.
Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Departamento de Ginecologia. Rio de Janeiro, RJ, Brasil.
Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Departamento de Ginecologia. Rio de Janeiro, RJ, Brasil.
Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Departamento de Biologia Molecular. Rio de Janeiro, RJ, Brasil.
Abstract
The X-ray repair cross-complementing Group1 (XRCC1)gene has been defined as essential in the base excision re-pair (BER) and single-strand break repair processes. This gene is highly polymorphic, and the most extensively stud-ied 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 theXRCC1gene 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 signifi-cant 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 im-pact on breast cancer susceptibility.
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