Multigene Panel Testing in Individuals With Hepatocellular Carcinoma Identifies Pathogenic Germline Variants

• DOI: 10.1200/po.21.00079
• Publication Date: 2021-06-10T19:59:07Z
• Authors: Anya Mezina; Neil Philips; Zoe Bogus; Noam Erez; Rui Xiao; Ruoming Fan; Kim M. Olthoff; K. Rajender Reddy; N. Jewel Samadder; Sarah M. Nielsen; Kathryn E. Hatchell; Edward D. Esplin; Anil K. Rustgi; Bryson W. Katona; Maarouf A. Hoteit; Katherine L. Nath...; Kirk J. Wangensteen
• Keywords: MSH6; CHEK2

PURPOSE Hepatocellular carcinoma (HCC) has well-defined environmental risk factors. In addition, epidemiologic studies have suggested hereditary The goals of this study were to determine the rate pathogenic and likely (P/LP) germline variants in cancer predisposition genes patients with HCC, possible enrichment P/LP particular genes, potential impact on clinical management. MATERIALS AND METHODS A prospective at a tertiary medical center enrolled 217 personal history HCC. Multigene panel testing was performed for 134 all patients. compared population rates. separate retrospective cohort included 219 HCC who underwent commercial laboratory. RESULTS cohort, identified 25 (11.5%). Four (1.8%) had highly penetrant BRCA2 (n = 2), MSH6 1), PMS2 1). multiple FANCA 5) BRIP1 4), which significantly enriched general population. Detection led changes management regard therapy selection, screening recommendations, cascade relatives. analysis 30 (13.7%) positive including 13 (5.9%) APC BRCA1 6), MSH2 or TP53 2). CONCLUSION detected 11%-14% Inherited genetics should not be overlooked as there are important implications precision treatment, future cancers, familial risk.