Study of the Genetic Variants in BRCA1/2 and Non-BRCA Genes in a Population-Based Cohort of 2155 Breast/Ovary Cancer Patients Including 443 Triple-Negative Breast Cancer Patients in Argentina

摘要

Gene/s sequencing in hereditary breast/ovary cancer (HBOC) in routine diagnosis is challenged by the analysis of panels. The aim of this report is to describe a retrospective analysis of BRCA1/2 and non-BRCA gene sequencing in patients with breast/ovary cancer (BOC), including triple-negative breast cancer (TNBC). TNBC is associated to BRCA1/2 at a higher rate than the rest of the breast cancer types. The more prevalent pathogenic variants (PVs) in BRCA1/2 genes do not rule out the importance to panels of genes, although they are certainly far from shedding light on the gap of the 85% predicted linkage association of BOC with BRCA1/2 and are still not elucidated. This data is also of value in health programming for alerting risks in breast screening and knowledge of the regional spectrum of genetic variants.