Population prevalence of hereditary breast cancer phenotypes and implementation of a genetic cancer risk assessment program in southern Brazil
| Autor: | Bernadete Weber, Patricia Ashton-Prolla, Lavinia Schuler-Faccini, Cristina Brinkmann Oliveira Netto, Juliana Giacomazzi, Fernanda Lenara Roth, Suzi Alves Camey, Maira Caleffi, Roberto Giugliani, Luciane Kalakun, Edenir Inêz Palmero, Giovana Skonieski |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2009 |
| Předmět: |
lcsh:QH426-470
Population Pedigree chart Biology Breast cancer breast cancer Predisposição genética para doença Genetics medicine Prevalência Family history education Porto Alegre (RS) Molecular Biology Hereditary cancer syndromes hereditary cancer syndromes education.field_of_study genetic counseling Cancer Neoplasias da mama medicine.disease Neoplasias Hereditariedade lcsh:Genetics Aconselhamento genético Cohort Human and Medical Genetics Risk assessment Demography Hereditary Breast Cancer Research Article Genetic counseling |
| Zdroj: | Genetics and Molecular Biology, Vol 32, Iss 3, Pp 447-455 (2009) Repositório Institucional da UFRGS Universidade Federal do Rio Grande do Sul (UFRGS) instacron:UFRGS Scopus-Elsevier Genetics and Molecular Biology Genetics and Molecular Biology, Volume: 32, Issue: 3, Pages: 447-455, Published: 10 JUL 2009 Genetics and Molecular Biology v.32 n.3 2009 Sociedade Brasileira de Genética (SBG) instacron:SBG |
| ISSN: | 1678-4685 1415-4757 |
| Popis: | 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 ³ 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|