Pathogenic germline variants in patients with hepatocellular carcinoma
Dr. Kirk Wangensteen
Hepatocellular carcinoma has well-defined environmental risk factors. In addition, epidemiologic studies have suggested hereditary risk factors. A study at Perelman School of Medicine (Philadelphia, PA) identified pathogenic or likely pathogenic germline variants in cancer predisposition genes in 11% and 14% of two cohorts of HCC patients. These variants could have important implications for precision treatment, future risk of cancers, and risk of cancer in relatives.