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Giacomazzi,J.; Aguiar,E.; Palmero,E.I.; Schmidt,A.V.; Skonieski,G.; Filho,D.D.; Bock,H.; Saraiva-Pereira,M.L.; Ewald,I.P.; Schuler-Faccini,L.; Camey,S.A.; Caleffi,M.; Giugliani,R.; Ashton-Prolla,P.. |
Polymorphisms of hormone receptor genes have been linked to modifications in reproductive factors and to an increased risk of breast cancer (BC). In the present study, we have determined the allelic and genotypic frequencies of the ERα-397 PvuII C/T, ERα-351 XbaI A/G and PGR PROGINS polymorphisms and investigated their relationship with mammographic density, body mass index (BMI) and other risk factors for BC. A consecutive and unselected sample of 750 Brazilian BC-unaffected women enrolled in a mammography screening program was recruited. The distribution of PGR PROGINS genotypic frequencies was 72.5, 25.5 and 2.0% for A1A1, A1A2 and A2A2, respectively, which was equivalent to that encountered in other studies with healthy women. The distribution of ERα... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Genetic polymorphisms; Estrogen receptor gene; Progesterone receptor gene; Breast cancer susceptibility. |
Ano: 2012 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2012001000002 |
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Falagan-Lotsch,Priscila; Rodrigues,Marina S.; Esteves,Viviane; Vieira,Roberto; Amendola,Luis C.; Pagnoncelli,Dante; Paixão,Júlio C.; Gallo,Claudia V. De Moura. |
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... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: XRCC1 gene polymorphisms; Breast cancer susceptibility; Brazilian population. |
Ano: 2009 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000200008 |
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