title: Population prevalence of hereditary breast cancer phenotypes and implementation of a genetic cancer risk assessment program in southern Brazil.
abstract: 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 ≥ 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.
authors.affiliation: Programa de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS Brazil.
authors.forename: Edenir I
authors.initials: EI
authors.lastname: Palmero
authors.forename: Maira
authors.initials: M
authors.lastname: Caleffi
authors.forename: Lavínia
authors.initials: L
authors.lastname: Schüler-Faccini
authors.forename: Fernanda L
authors.initials: FL
authors.lastname: Roth
authors.forename: Luciane
authors.initials: L
authors.lastname: Kalakun
authors.forename: Cristina Brinkmann Oliveira
authors.initials: CB
authors.lastname: Netto
authors.forename: Giovana
authors.initials: G
authors.lastname: Skonieski
authors.forename: Juliana
authors.initials: J
authors.lastname: Giacomazzi
authors.forename: Bernadete
authors.initials: B
authors.lastname: Weber
authors.forename: Roberto
authors.initials: R
authors.lastname: Giugliani
authors.forename: Suzi A
authors.initials: SA
authors.lastname: Camey
authors.forename: Patricia
authors.initials: P
authors.lastname: Ashton-Prolla