Population prevalence of hereditary breast cancer phenotypes and implementation of a genetic cancer risk assessment program in southern Brazil

Detalhes bibliográficos
Autor(a) principal: Palmero,Edenir I.
Data de Publicação: 2009
Outros Autores: Caleffi,Maira, Schüler-Faccini,Lavínia, Roth,Fernanda L., Kalakun,Luciane, Netto,Cristina Brinkmann Oliveira, Skonieski,Giovana, Giacomazzi,Juliana, Weber,Bernadete, Giugliani,Roberto, Camey,Suzi A., Ashton-Prolla,Patricia
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Genetics and Molecular Biology
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000300004
Resumo: In 2004, a population-based cohort (the Núcleo Mama Porto Alegre - NMPOA Cohort) was started in Porto Alegre, southern Brazil and within that cohort, a hereditary breast cancer study was initiated, aiming to determine the prevalence of hereditary breast cancer phenotypes and evaluate acceptance of a genetic cancer risk assessment (GCRA) program. Women from that cohort who reported a positive family history of cancer were referred to GCRA. Of the 9218 women enrolled, 1286 (13.9%) reported a family history of cancer. Of the 902 women who attended GCRA, 55 (8%) had an estimated lifetime risk of breast cancer ³ 20% and 214 (23.7%) had pedigrees suggestive of a breast cancer predisposition syndrome; an unexpectedly high number of these fulfilled criteria for Li-Fraumeni-like syndrome (122 families, 66.7%). The overall prevalence of a hereditary breast cancer phenotype was 6.2% (95%CI: 5.67-6.65). These findings identified a problem of significant magnitude in the region and indicate that genetic cancer risk evaluation should be undertaken in a considerable proportion of the women from this community. The large proportion of women who attended GCRA (72.3%) indicates that the program was well-accepted by the community, regardless of the potential cultural, economic and social barriers.
id SBG-1_b0780647340fe8c0a9919880c27b2c8e
oai_identifier_str oai:scielo:S1415-47572009000300004
network_acronym_str SBG-1
network_name_str Genetics and Molecular Biology
repository_id_str
spelling Population prevalence of hereditary breast cancer phenotypes and implementation of a genetic cancer risk assessment program in southern Brazilbreast cancergenetic counselinghereditary cancer syndromesIn 2004, a population-based cohort (the Núcleo Mama Porto Alegre - NMPOA Cohort) was started in Porto Alegre, southern Brazil and within that cohort, a hereditary breast cancer study was initiated, aiming to determine the prevalence of hereditary breast cancer phenotypes and evaluate acceptance of a genetic cancer risk assessment (GCRA) program. Women from that cohort who reported a positive family history of cancer were referred to GCRA. Of the 9218 women enrolled, 1286 (13.9%) reported a family history of cancer. Of the 902 women who attended GCRA, 55 (8%) had an estimated lifetime risk of breast cancer ³ 20% and 214 (23.7%) had pedigrees suggestive of a breast cancer predisposition syndrome; an unexpectedly high number of these fulfilled criteria for Li-Fraumeni-like syndrome (122 families, 66.7%). The overall prevalence of a hereditary breast cancer phenotype was 6.2% (95%CI: 5.67-6.65). These findings identified a problem of significant magnitude in the region and indicate that genetic cancer risk evaluation should be undertaken in a considerable proportion of the women from this community. The large proportion of women who attended GCRA (72.3%) indicates that the program was well-accepted by the community, regardless of the potential cultural, economic and social barriers.Sociedade Brasileira de Genética2009-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000300004Genetics and Molecular Biology v.32 n.3 2009reponame:Genetics and Molecular Biologyinstname:Sociedade Brasileira de Genética (SBG)instacron:SBG10.1590/S1415-47572009005000058info:eu-repo/semantics/openAccessPalmero,Edenir I.Caleffi,MairaSchüler-Faccini,LavíniaRoth,Fernanda L.Kalakun,LucianeNetto,Cristina Brinkmann OliveiraSkonieski,GiovanaGiacomazzi,JulianaWeber,BernadeteGiugliani,RobertoCamey,Suzi A.Ashton-Prolla,Patriciaeng2009-08-10T00:00:00Zoai:scielo:S1415-47572009000300004Revistahttp://www.gmb.org.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||editor@gmb.org.br1678-46851415-4757opendoar:2009-08-10T00:00Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)false
dc.title.none.fl_str_mv Population prevalence of hereditary breast cancer phenotypes and implementation of a genetic cancer risk assessment program in southern Brazil
title Population prevalence of hereditary breast cancer phenotypes and implementation of a genetic cancer risk assessment program in southern Brazil
spellingShingle Population prevalence of hereditary breast cancer phenotypes and implementation of a genetic cancer risk assessment program in southern Brazil
Palmero,Edenir I.
breast cancer
genetic counseling
hereditary cancer syndromes
title_short Population prevalence of hereditary breast cancer phenotypes and implementation of a genetic cancer risk assessment program in southern Brazil
title_full Population prevalence of hereditary breast cancer phenotypes and implementation of a genetic cancer risk assessment program in southern Brazil
title_fullStr Population prevalence of hereditary breast cancer phenotypes and implementation of a genetic cancer risk assessment program in southern Brazil
title_full_unstemmed Population prevalence of hereditary breast cancer phenotypes and implementation of a genetic cancer risk assessment program in southern Brazil
title_sort Population prevalence of hereditary breast cancer phenotypes and implementation of a genetic cancer risk assessment program in southern Brazil
author Palmero,Edenir I.
author_facet Palmero,Edenir I.
Caleffi,Maira
Schüler-Faccini,Lavínia
Roth,Fernanda L.
Kalakun,Luciane
Netto,Cristina Brinkmann Oliveira
Skonieski,Giovana
Giacomazzi,Juliana
Weber,Bernadete
Giugliani,Roberto
Camey,Suzi A.
Ashton-Prolla,Patricia
author_role author
author2 Caleffi,Maira
Schüler-Faccini,Lavínia
Roth,Fernanda L.
Kalakun,Luciane
Netto,Cristina Brinkmann Oliveira
Skonieski,Giovana
Giacomazzi,Juliana
Weber,Bernadete
Giugliani,Roberto
Camey,Suzi A.
Ashton-Prolla,Patricia
author2_role author
author
author
author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Palmero,Edenir I.
Caleffi,Maira
Schüler-Faccini,Lavínia
Roth,Fernanda L.
Kalakun,Luciane
Netto,Cristina Brinkmann Oliveira
Skonieski,Giovana
Giacomazzi,Juliana
Weber,Bernadete
Giugliani,Roberto
Camey,Suzi A.
Ashton-Prolla,Patricia
dc.subject.por.fl_str_mv breast cancer
genetic counseling
hereditary cancer syndromes
topic breast cancer
genetic counseling
hereditary cancer syndromes
description In 2004, a population-based cohort (the Núcleo Mama Porto Alegre - NMPOA Cohort) was started in Porto Alegre, southern Brazil and within that cohort, a hereditary breast cancer study was initiated, aiming to determine the prevalence of hereditary breast cancer phenotypes and evaluate acceptance of a genetic cancer risk assessment (GCRA) program. Women from that cohort who reported a positive family history of cancer were referred to GCRA. Of the 9218 women enrolled, 1286 (13.9%) reported a family history of cancer. Of the 902 women who attended GCRA, 55 (8%) had an estimated lifetime risk of breast cancer ³ 20% and 214 (23.7%) had pedigrees suggestive of a breast cancer predisposition syndrome; an unexpectedly high number of these fulfilled criteria for Li-Fraumeni-like syndrome (122 families, 66.7%). The overall prevalence of a hereditary breast cancer phenotype was 6.2% (95%CI: 5.67-6.65). These findings identified a problem of significant magnitude in the region and indicate that genetic cancer risk evaluation should be undertaken in a considerable proportion of the women from this community. The large proportion of women who attended GCRA (72.3%) indicates that the program was well-accepted by the community, regardless of the potential cultural, economic and social barriers.
publishDate 2009
dc.date.none.fl_str_mv 2009-01-01
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=S1415-47572009000300004
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000300004
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S1415-47572009005000058
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 Sociedade Brasileira de Genética
publisher.none.fl_str_mv Sociedade Brasileira de Genética
dc.source.none.fl_str_mv Genetics and Molecular Biology v.32 n.3 2009
reponame:Genetics and Molecular Biology
instname:Sociedade Brasileira de Genética (SBG)
instacron:SBG
instname_str Sociedade Brasileira de Genética (SBG)
instacron_str SBG
institution SBG
reponame_str Genetics and Molecular Biology
collection Genetics and Molecular Biology
repository.name.fl_str_mv Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)
repository.mail.fl_str_mv ||editor@gmb.org.br
_version_ 1752122382331412480