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

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 indivi...

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Bibliographic Details
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
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Summary: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.
ISSN:2210-7762
2210-7770
DOI:10.1016/j.cancergen.2016.06.008