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Genet. mol. biol ; 32(3): 447-455, 2009. tab, ilus
Artigo em Inglês | LILACS | ID: lil-522313

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 percent) reported a family history of cancer. Of the 902 women who attended GCRA, 55 (8 percent) had an estimated lifetime risk of breast cancer ³ 20 percent and 214 (23.7 percent) 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 percent). The overall prevalence of a hereditary breast cancer phenotype was 6.2 percent (95 percentCI: 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 percent) indicates that the program was well-accepted by the community, regardless of the potential cultural, economic and social barriers.


Assuntos
Humanos , Feminino , Adolescente , Adulto , Pessoa de Meia-Idade , Predisposição Genética para Doença , Neoplasias da Mama/genética , Brasil , Aconselhamento Genético , Neoplasias da Mama/epidemiologia , Fenótipo , Prevalência , Fatores de Risco
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