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

• Published in: Cancer genetics 2016-09, Vol.209 (9), p.417-422
• Main Authors: Alemar, Bárbara, Herzog, Josef, Netto, Cristina Brinckmann Oliveira, Artigalas, Osvaldo, Schwartz, Ida Vanessa, Bittar, Camila, Ashton-Prolla, Patricia, Weitzel, Jeffrey
• Format: Article
• Language: English
• Subjects: Adult; Aged; BRCA1; BRCA2; Breast Neoplasms - genetics; Female; Genes, BRCA1; Genes, BRCA2; Hematology, Oncology and Palliative Medicine; Hereditary breast and ovarian cancer; Hispanic Americans; Humans; Medical Education; Middle Aged; Mutation; Ovarian Neoplasms - genetics; Young Adult
• ISSN: 2210-7762; 2210-7770
• DOI: 10.1016/j.cancergen.2016.06.008

Abstract 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 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.