Prevalence of ERα-397 PvuII C/T, ERα-351 XbaI A/G and PGR PROGINS polymorphisms in Brazilian breast cancer-unaffected women
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 PROGIN...
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| Format: | Article |
| Language: | English |
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Associação Brasileira de Divulgação Científica
2012-10-01
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| Series: | Brazilian Journal of Medical and Biological Research |
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| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2012001000002 |
| _version_ | 1818023214582857728 |
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| author | J. Giacomazzi E. Aguiar E.I. Palmero A.V. Schmidt G. Skonieski D.D. Filho H. Bock M.L. Saraiva-Pereira I.P. Ewald L. Schuler-Faccini S.A. Camey M. Caleffi R. Giugliani P. Ashton-Prolla |
| author_facet | J. Giacomazzi E. Aguiar E.I. Palmero A.V. Schmidt G. Skonieski D.D. Filho H. Bock M.L. Saraiva-Pereira I.P. Ewald L. Schuler-Faccini S.A. Camey M. Caleffi R. Giugliani P. Ashton-Prolla |
| author_sort | J. Giacomazzi |
| collection | DOAJ |
| description | 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 genotypes was: ERα-397 PvuII C/T: 32.3% TT, 47.5% TC, and 20.2% CC; ERα-351 XbaI A/G: 46.3% AA, 41.7% AG and 12.0% GG. ERα haplotypes were 53.5% PX, 14.3% Px, 0.3% pX, and 32.0% px. These were significantly different from most previously published reports worldwide (P < 0.05). Overall, the PGR PROGINS genotypes A2A2 and A1A2 were associated with fatty and moderately fatty breast tissue. The same genotypes were also associated with a high BMI in postmenopausal women. In addition, the ERα-351 XbaI GG genotype was associated with menarche ≥12 years (P = 0.02). ERα and PGR polymorphisms have a phenotypic effect and may play an important role in BC risk determination. Finally, if confirmed in BC patients, these associations could have important implications for mammographic screening and strategies and may be helpful to identify women at higher risk for the disease. |
| first_indexed | 2024-12-10T03:40:46Z |
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| institution | Directory Open Access Journal |
| issn | 0100-879X 1414-431X |
| language | English |
| last_indexed | 2024-12-10T03:40:46Z |
| publishDate | 2012-10-01 |
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| series | Brazilian Journal of Medical and Biological Research |
| spelling | doaj.art-50c548e3c7d04fe3873db8f3da05cc652022-12-22T02:03:34ZengAssociação Brasileira de Divulgação CientíficaBrazilian Journal of Medical and Biological Research0100-879X1414-431X2012-10-014510891897Prevalence of ERα-397 PvuII C/T, ERα-351 XbaI A/G and PGR PROGINS polymorphisms in Brazilian breast cancer-unaffected womenJ. GiacomazziE. AguiarE.I. PalmeroA.V. SchmidtG. SkonieskiD.D. FilhoH. BockM.L. Saraiva-PereiraI.P. EwaldL. Schuler-FacciniS.A. CameyM. CaleffiR. GiuglianiP. Ashton-ProllaPolymorphisms 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 genotypes was: ERα-397 PvuII C/T: 32.3% TT, 47.5% TC, and 20.2% CC; ERα-351 XbaI A/G: 46.3% AA, 41.7% AG and 12.0% GG. ERα haplotypes were 53.5% PX, 14.3% Px, 0.3% pX, and 32.0% px. These were significantly different from most previously published reports worldwide (P < 0.05). Overall, the PGR PROGINS genotypes A2A2 and A1A2 were associated with fatty and moderately fatty breast tissue. The same genotypes were also associated with a high BMI in postmenopausal women. In addition, the ERα-351 XbaI GG genotype was associated with menarche ≥12 years (P = 0.02). ERα and PGR polymorphisms have a phenotypic effect and may play an important role in BC risk determination. Finally, if confirmed in BC patients, these associations could have important implications for mammographic screening and strategies and may be helpful to identify women at higher risk for the disease.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2012001000002Genetic polymorphismsEstrogen receptor geneProgesterone receptor geneBreast cancer susceptibility |
| spellingShingle | J. Giacomazzi E. Aguiar E.I. Palmero A.V. Schmidt G. Skonieski D.D. Filho H. Bock M.L. Saraiva-Pereira I.P. Ewald L. Schuler-Faccini S.A. Camey M. Caleffi R. Giugliani P. Ashton-Prolla Prevalence of ERα-397 PvuII C/T, ERα-351 XbaI A/G and PGR PROGINS polymorphisms in Brazilian breast cancer-unaffected women Brazilian Journal of Medical and Biological Research Genetic polymorphisms Estrogen receptor gene Progesterone receptor gene Breast cancer susceptibility |
| title | Prevalence of ERα-397 PvuII C/T, ERα-351 XbaI A/G and PGR PROGINS polymorphisms in Brazilian breast cancer-unaffected women |
| title_full | Prevalence of ERα-397 PvuII C/T, ERα-351 XbaI A/G and PGR PROGINS polymorphisms in Brazilian breast cancer-unaffected women |
| title_fullStr | Prevalence of ERα-397 PvuII C/T, ERα-351 XbaI A/G and PGR PROGINS polymorphisms in Brazilian breast cancer-unaffected women |
| title_full_unstemmed | Prevalence of ERα-397 PvuII C/T, ERα-351 XbaI A/G and PGR PROGINS polymorphisms in Brazilian breast cancer-unaffected women |
| title_short | Prevalence of ERα-397 PvuII C/T, ERα-351 XbaI A/G and PGR PROGINS polymorphisms in Brazilian breast cancer-unaffected women |
| title_sort | prevalence of er 945 397 pvuii c t er 945 351 xbai a g and pgr progins polymorphisms in brazilian breast cancer unaffected women |
| topic | Genetic polymorphisms Estrogen receptor gene Progesterone receptor gene Breast cancer susceptibility |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2012001000002 |
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