Germline Mutational Spectrum Of Brazilian Hboc Patients Tested With Hereditary Cancer Multigene Panels.

e13113Background: Hereditary breast and ovarian cancer syndrome (HBOC) is a condition with significant phenotypic heterogeneity caused by mutations in BRCA1 and BRCA2. In addition, several other genes have been implicated in an increased risk of breast (BC) and ovarian cancer (OC). In the past years, multigene panels performed through next generation sequencing (NGS) were consolidated as a cost-effective method to access the germline mutational status of patients with HBOC-like phenotypes. We aimed to evaluate the mutational spectrum of patients fulfilling HBOC clinical criteria (according to the NCCN guidelines). Methods: NGS (including deletion/duplication analyses) were performed at a commercial laboratory in the USA using Illumina technology (minimum coverage 50x depth). For all 89 patients included in this study, at least seven genes were analysed (BRCA1, BRCA2, CDH1, PALB2, PTEN, STK11 and TP53). In a few patients, expanded panels (up to 48 genes) were used. Results: Most patients had BC (68%, mean ...