Profile of BRCA1/2 variants in patients from CEMIC and the University of Buenos Aires including novel findings, deleterious mutations, variants affecting protein function, and recurrent germline mutations.

CARDOSO F; NUÑEZ L; ROMANO V; SOLANO A

Conferencia; MD-Anderson Cancer Center; 2015

Sequence data related to inherited cancers associated genes is scarce for South America population. Genetic variants of the BRCA1/2 genes, as a result of 15 years of experience in patients with diagnostic and/or family history of breast/ovarian cancer (HBOC) will be depicted. We found novel variants with clinical significance benign, uncertain (UN) and deleterious, surprisingly, even after more than 1700 causal mutations listed in the Breast Cancer Information Core (BIC), that might emphasize our hypothesis about regional variants.