Journal
CANCER GENETICS
Volume 209, Issue 9, Pages 417-422Publisher
ELSEVIER SCIENCE INC
DOI: 10.1016/j.cancergen.2016.06.008
Keywords
Hereditary breast and ovarian cancer; BRCA1; BRCA2
Categories
Funding
- Breast Cancer Research Foundation, Avon [02-2013-044]
- NIH/NCI for the Clinical Cancer Genomics Community Research Network [RC4 CA153828-01]
- Fundo de Incentivo a Pesquisa e Eventos (FIPE) from Hospital de Clinicas de Porto Alegre, Brazil
- Coordenagao de Aperfeigoannento de Pessoal de Nivel Superior (CAPES)
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Germline mutations in BRCA1 or BRCA2 (BRCA) are responsible for 5-15% of breast (BC) and ovarian cancers (OC), predisposing to the development of early onset and often multiple primary tumors. Since mutation carriers can benefit from risk-reducing interventions, the identification of individuals with hereditary breast and ovarian cancer (HBOC) syndrome has a significant clinical impact. We assessed whether a panel assay for recurrent Hispanic BRCA mutations (HISPANEL) has an adequate breadth of coverage to be suitable as a cost effective screening tool for HBOC in a cohort of patients from Southern Brazil. A multiplex, PCR-based panel was used to genotype 232 unrelated patients for 114 germline BRCA mutations, finding deleterious mutations in 3.5% of them. This mutation prevalence is within the range detected by the HISPANEL among BC patients unselected for family history in other Latin American settings. The HISPANEL would have accounted for 27% of the BRCA mutations detected by complete sequencing in a comparison cohort (n = 193). This prevalence may be region-specific since significant differences in population structure exist in Brazil. Comprehensive analysis of BRCA in a larger set of HBOC patients from different Brazilian regions is warranted, and the results could inform customization of the HISPANEL as an affordable mutation screening tool.
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