Prevalence of the STK15 F31I polymorphism and its relationship with mammographic density

Detalhes bibliográficos
Autor(a) principal: Giacomazzi,J.
Data de Publicação: 2011
Outros Autores: Aguiar,E., Palmero,E.I., Schmidt,A.V., Skonieski,G., Duarte Filho,D., Bock,H., Saraiva-Pereira,M.L., Schuler-Faccini,L., Camey,S.A., Caleffi,M., Giugliani,R., Ashton-Prolla,P.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Brazilian Journal of Medical and Biological Research
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2011000400004
Resumo: Several studies have identified the single nucleotide polymorphism STK15 F31I as a low-penetrance risk allele for breast cancer, but its prevalence and risk association in the Brazilian population have not been determined. The goal of this study was to identify the frequency of this polymorphism in the Brazilian setting. Considering the high degree of admixture of our population, it is of fundamental importance to validate the results already reported in the literature and also to verify the relationship between this variant and breast cancer risk. A total of 750 women without breast cancer were genotyped using the TaqMan PCR assay for STK15 F31I polymorphism. Clinical information was obtained from review of the medical records and mammographic density from the images obtained using the BI-RADS System. The estimated risk of developing cancer was calculated according to the Gail model. The genotypic frequencies observed in this study were 4.5, 38.7, and 56.6%, respectively, for the STK15 F31I AA, AT and TT genotypes. The AT and AA genotypes were encountered significantly more often in premenopausal women with moderately dense, dense and heterogeneously dense breast tissue (P = 0.023). In addition, the presence of the TT genotype was significantly associated with age at menarche ≥12 years (P = 0.023). High mammographic density, associated with increased breast cancer risk, was encountered more frequently in premenopausal women with the risk genotypes STK15 F31I AA and AT. The genotypic frequencies observed in our Brazilian sample were similar to those described in other predominantly European populations.
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spelling Prevalence of the STK15 F31I polymorphism and its relationship with mammographic densitySTK15 F31I polymorphismBreast cancer riskMammographic densitySeveral studies have identified the single nucleotide polymorphism STK15 F31I as a low-penetrance risk allele for breast cancer, but its prevalence and risk association in the Brazilian population have not been determined. The goal of this study was to identify the frequency of this polymorphism in the Brazilian setting. Considering the high degree of admixture of our population, it is of fundamental importance to validate the results already reported in the literature and also to verify the relationship between this variant and breast cancer risk. A total of 750 women without breast cancer were genotyped using the TaqMan PCR assay for STK15 F31I polymorphism. Clinical information was obtained from review of the medical records and mammographic density from the images obtained using the BI-RADS System. The estimated risk of developing cancer was calculated according to the Gail model. The genotypic frequencies observed in this study were 4.5, 38.7, and 56.6%, respectively, for the STK15 F31I AA, AT and TT genotypes. The AT and AA genotypes were encountered significantly more often in premenopausal women with moderately dense, dense and heterogeneously dense breast tissue (P = 0.023). In addition, the presence of the TT genotype was significantly associated with age at menarche ≥12 years (P = 0.023). High mammographic density, associated with increased breast cancer risk, was encountered more frequently in premenopausal women with the risk genotypes STK15 F31I AA and AT. The genotypic frequencies observed in our Brazilian sample were similar to those described in other predominantly European populations.Associação Brasileira de Divulgação Científica2011-04-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2011000400004Brazilian Journal of Medical and Biological Research v.44 n.4 2011reponame:Brazilian Journal of Medical and Biological Researchinstname:Associação Brasileira de Divulgação Científica (ABDC)instacron:ABDC10.1590/S0100-879X2011007500029info:eu-repo/semantics/openAccessGiacomazzi,J.Aguiar,E.Palmero,E.I.Schmidt,A.V.Skonieski,G.Duarte Filho,D.Bock,H.Saraiva-Pereira,M.L.Schuler-Faccini,L.Camey,S.A.Caleffi,M.Giugliani,R.Ashton-Prolla,P.eng2016-09-26T00:00:00Zoai:scielo:S0100-879X2011000400004Revistahttps://www.bjournal.org/https://old.scielo.br/oai/scielo-oai.phpbjournal@terra.com.br||bjournal@terra.com.br1414-431X0100-879Xopendoar:2016-09-26T00:00Brazilian Journal of Medical and Biological Research - Associação Brasileira de Divulgação Científica (ABDC)false
dc.title.none.fl_str_mv Prevalence of the STK15 F31I polymorphism and its relationship with mammographic density
title Prevalence of the STK15 F31I polymorphism and its relationship with mammographic density
spellingShingle Prevalence of the STK15 F31I polymorphism and its relationship with mammographic density
Giacomazzi,J.
STK15 F31I polymorphism
Breast cancer risk
Mammographic density
title_short Prevalence of the STK15 F31I polymorphism and its relationship with mammographic density
title_full Prevalence of the STK15 F31I polymorphism and its relationship with mammographic density
title_fullStr Prevalence of the STK15 F31I polymorphism and its relationship with mammographic density
title_full_unstemmed Prevalence of the STK15 F31I polymorphism and its relationship with mammographic density
title_sort Prevalence of the STK15 F31I polymorphism and its relationship with mammographic density
author Giacomazzi,J.
author_facet Giacomazzi,J.
Aguiar,E.
Palmero,E.I.
Schmidt,A.V.
Skonieski,G.
Duarte Filho,D.
Bock,H.
Saraiva-Pereira,M.L.
Schuler-Faccini,L.
Camey,S.A.
Caleffi,M.
Giugliani,R.
Ashton-Prolla,P.
author_role author
author2 Aguiar,E.
Palmero,E.I.
Schmidt,A.V.
Skonieski,G.
Duarte Filho,D.
Bock,H.
Saraiva-Pereira,M.L.
Schuler-Faccini,L.
Camey,S.A.
Caleffi,M.
Giugliani,R.
Ashton-Prolla,P.
author2_role author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Giacomazzi,J.
Aguiar,E.
Palmero,E.I.
Schmidt,A.V.
Skonieski,G.
Duarte Filho,D.
Bock,H.
Saraiva-Pereira,M.L.
Schuler-Faccini,L.
Camey,S.A.
Caleffi,M.
Giugliani,R.
Ashton-Prolla,P.
dc.subject.por.fl_str_mv STK15 F31I polymorphism
Breast cancer risk
Mammographic density
topic STK15 F31I polymorphism
Breast cancer risk
Mammographic density
description Several studies have identified the single nucleotide polymorphism STK15 F31I as a low-penetrance risk allele for breast cancer, but its prevalence and risk association in the Brazilian population have not been determined. The goal of this study was to identify the frequency of this polymorphism in the Brazilian setting. Considering the high degree of admixture of our population, it is of fundamental importance to validate the results already reported in the literature and also to verify the relationship between this variant and breast cancer risk. A total of 750 women without breast cancer were genotyped using the TaqMan PCR assay for STK15 F31I polymorphism. Clinical information was obtained from review of the medical records and mammographic density from the images obtained using the BI-RADS System. The estimated risk of developing cancer was calculated according to the Gail model. The genotypic frequencies observed in this study were 4.5, 38.7, and 56.6%, respectively, for the STK15 F31I AA, AT and TT genotypes. The AT and AA genotypes were encountered significantly more often in premenopausal women with moderately dense, dense and heterogeneously dense breast tissue (P = 0.023). In addition, the presence of the TT genotype was significantly associated with age at menarche ≥12 years (P = 0.023). High mammographic density, associated with increased breast cancer risk, was encountered more frequently in premenopausal women with the risk genotypes STK15 F31I AA and AT. The genotypic frequencies observed in our Brazilian sample were similar to those described in other predominantly European populations.
publishDate 2011
dc.date.none.fl_str_mv 2011-04-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2011000400004
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2011000400004
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S0100-879X2011007500029
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Associação Brasileira de Divulgação Científica
publisher.none.fl_str_mv Associação Brasileira de Divulgação Científica
dc.source.none.fl_str_mv Brazilian Journal of Medical and Biological Research v.44 n.4 2011
reponame:Brazilian Journal of Medical and Biological Research
instname:Associação Brasileira de Divulgação Científica (ABDC)
instacron:ABDC
instname_str Associação Brasileira de Divulgação Científica (ABDC)
instacron_str ABDC
institution ABDC
reponame_str Brazilian Journal of Medical and Biological Research
collection Brazilian Journal of Medical and Biological Research
repository.name.fl_str_mv Brazilian Journal of Medical and Biological Research - Associação Brasileira de Divulgação Científica (ABDC)
repository.mail.fl_str_mv bjournal@terra.com.br||bjournal@terra.com.br
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