Prevalence of Hispanic BRCA1 and BRCA2 mutations among hereditary breast and ovarian cancer patients from Brazil reveals differences among Latin American populations

摘要: Germline mutations in BRCA1 or BRCA2 (BRCA) are responsible for 5–15% of breast (BC) and ovarian cancers (OC), predisposing to the development early onset often multiple primary tumors. Since mutation carriers can benefit from risk-reducing interventions, identification individuals with hereditary cancer (HBOC) syndrome has a significant clinical impact. We assessed whether panel assay recurrent Hispanic BRCA (HISPANEL) an adequate breadth coverage be suitable as cost effective screening tool HBOC cohort patients Southern Brazil. A multiplex, PCR-based was used genotype 232 unrelated 114 germline mutations, finding deleterious 3.5% them. This prevalence is within range detected by HISPANEL among BC unselected family history other Latin American settings. The would have accounted 27% complete sequencing comparison (n = 193). may region-specific since differences population structure exist Comprehensive analysis larger set different Brazilian regions warranted, results could inform customization affordable tool.