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.

e12515 Background: 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. Methods: Massive parallel sequencing (Ion Torrent) with Sanger confirmation in DNA samples extracted from blood, analyzing the full coding sequence and 30bp of the introns of the BRCA1/2 genes, this is since two years, before that we performed Sanger sequence. Results: We analyzed 524 patients (including 144 healthy women). We detected near 400 genetic variants including 71 of them novel (30% intronics). Among the 148 mutated patients we detect three recurren...