Pathogenic variants in BRCA1 and BRCA2 genes in patients with hereditary breast/ovarian cancer: our experience in Mendoza Argentina

LAURA M. VARGAS ROIG; ANA LIA VARGAS; CR CARRIZO; SILVINA B. NADIN; LAURA C GÓMEZ; ALEJANDRA MAMPEL; ANALÍA REDONDO

Simposio; II Simposio Internacional de Medicina Traslacional de la Facultad de Ciencias Médicas. Facultad de Ciencias Médicas, Universidad Nacional de Cuyo; 2019

Approximately 5% and 10% of breast cancer (BC) cases and 20% of ovarian cancer (OC) cases belong to inherited cancer syndromes based on the presence of pathogenic germline variants in BRCA1 or BRCA2 genes. The carriers of these, mutations are at a higher risk of developing the disease and the mutations can be passed on to offspring.OBJECTIVE: To identify BRCA1/2 pathogenic variants in patients suspected to have hereditary BC/OC in the province of Mendoza, Argentina.Patients with BC or OC were recruited according to the cancer genetic counseling and who meet criteria for the molecular analysis of the BRCA1/2 genes. The entire sequence of the genes was obtained by next generation sequencing (NGS) technology. The present work shows the high heterogeneity of the pathogenic variants in the population studied. It is important to complete the evaluation of the patients with: copy number variants (CNVs) or MLPA to search large rearrangement. The study of these genes and the study of other susceptibility genes would allow to establish preventive and risk reduction strategies, highlighting the family counseling.