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

dc.creatorPalmero, Edenir Inêz
dc.creatorCaleffi, Maira
dc.creatorFaccini, Lavinia Schuler
dc.creatorRoth, Fernanda Lenara
dc.creatorKalakun, Luciane
dc.creatorNetto, Cristina Brinckmann Oliveira
dc.creatorSkonieski, Giovana
dc.creatorGiacomazzi, Juliana
dc.creatorWeber, Bernadete
dc.creatorGiugliani, Roberto
dc.creatorCamey, Suzi Alves
dc.creatorProlla, Patrícia Ashton
dc.date2010-06-05T04:17:30Z
dc.date2009
dc.identifier1415-4757
dc.identifierhttp://hdl.handle.net/10183/23414
dc.identifier000717235
dc.descriptionIn 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 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.
dc.formatapplication/pdf
dc.languageeng
dc.relationGenetics and molecular biology. Ribeirão Preto. Vol. 32, no. 3 (Sept. 2009), p. 447-455
dc.rightsOpen Access
dc.subjectBreast cancer
dc.subjectGenetic counseling
dc.subjectHereditary cancer syndromes
dc.subjectNeoplasias
dc.subjectHereditariedade
dc.subjectAconselhamento genético
dc.subjectPrevalência
dc.subjectPredisposição genética para doença
dc.subjectNeoplasias da mama
dc.subjectPorto Alegre (RS)
dc.titlePopulation prevalence of hereditary breast cancer phenotypes and implementation of a genetic cancer risk assessment program in southern Brazil
dc.typeArtigo de periódico
dc.typeNacional


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