Importancia del panel multigen, myRisk®, en pacientes atendidos en un laboratorio clínico del Nororiente colombiano

Introduction: Hereditary tumors represent 5% to 10% of all tumors. Genes with high penetrance have been identified that confer susceptibility to hereditary tumors, such as BRCA1, BRCA2 (breast and ovarian cancer), APC (familial adenomatous polyposis), MLH1-72, MSH6, PMS2, EPCAM (Lynch syndrome). Objective: To evaluate the frequency of genes with pathogenic variants in the germline using the myRisk® multigene panel in a population of patients with suspected hereditary cancer. Methodology: A cross-sectional retrospective study of 88 myRisk® panel results reported to a clinical laboratory in northeastern Colombia between 2022 and 2023. Results: The study included 82 females and 6 males who underwent myRisk® analysis, ranging in age from 7 to 84 years. Of the 79 patients who had a previous cancer diagnosis, 14 (17.72%) tested positive for a genetic mutation. One patient without a previous cancer diagnosis also tested positive. The most frequently identified genes with pathogenic variants were BRCA2 (26.67%) and BRCA1 (20%). The remaining 53.32% were evenly distributed among CHEK2, MLH1, MUTYH, and PALB2. Among the 15 patients with a positive result for a mutation with clinical significance, 46.67% had a mutation in the BRCA1/2 genes. The most common mutation in the BRCA1 gene was c.5123C>A (p.Ala1708Glu), which occurred twice, and the most common mutation in the BRCA2 gene was c.3860 del (p.Asn1287Ilefs*6), which also occurred twice. In 8 out of the 15 patients with a pathogenic variant, an additional variant of uncertain clinical significance was found. Conclusions: In the analyzed population, the frequency of mutations in genes associated with hereditary tumors was 17.04%. Despite the limited number of patients, the use of such panels for evaluating hereditary tumors in clinical practice is important.