Artigo

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

Bernadete Weber, MAIRA CALEFFI, EDENIR I. PALMERO, FERNANDA L. ROTH, JULIANA GIACOMAZZI, SUZI A. CAMEY, LAVÍNIA SCHÜLER FACCINI, LUCIANE KALAKUN, ROBERTO GIUGLIANI, PATRÍCIA ASHTON PROLLA, CRISTINA BRINKMANN OLIVEIRA NETTO, GIOVANA SKONIESKI

Genetics and Molecular Biology, v. 32, n. 3, p. 447-455, 2009.

Motivo: Produção Colaborador HMV

Setor HMV: Nucleo Mama POA

Área da saúde: Mastologia

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  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.

Link: http://www.scielo.br/scielo.php?pid=S1415-47572009000300004&script=sci_arttext

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