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

• Autor(a) principal: Palmero, Edenir Inêz
• Data de Publicação: 2009
• Outros Autores: Caleffi, Maira, Faccini, Lavinia Schuler, Roth, Fernanda Lenara, Kalakun, Luciane, Netto, Cristina Brinckmann Oliveira, Skonieski, Giovana, Giacomazzi, Juliana, Weber, Bernadete, Giugliani, Roberto, Camey, Suzi Alves, Prolla, Patrícia Ashton
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Institucional da UFRGS
• Texto Completo: http://hdl.handle.net/10183/23414
• topic: Neoplasias; Hereditariedade; Aconselhamento genético; Prevalência; Predisposição genética para doença; Neoplasias da mama; Porto Alegre (RS); Breast cancer; Genetic counseling; Hereditary cancer syndromes

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.