Low Frequency of Cancer-Predisposition Gene Mutations in Liver Transplant Candidates with Hepatocellular Carcinoma
Abstrakt
Hepatocellular carcinoma (HCC) is the fourth most common cause of cancer-related deaths worldwide. HCC mostly results from liver cirrhosis and its genetic predisposition is believed to be rare.
A liver transplantation is considered a curative therapy for HCC; however, de novo tumor development is a feared complication in immunosuppressed transplant recipients. Having analyzed the prevalence of pathogenic/likely pathogenic germline variants in cancer-predisposition genes in 334 HCC patients considered for liver transplantation, we found only 7/334 (2.1%) carriers of pathogenic variants in established cancer-predisposition genes (PMS2, 4xNBN, FH or RET).
Interestingly, two MRN complex genes (NBN and RAD50) were significantly more frequent among patients over controls. Therefore, we conclude that the genetic predisposition to HCC is rare and HCC does not meet the criteria for routine germline genetic testing; however, germline testing could be considered in liver transplant recipients as the variant carriers may benefit from tailored follow-up or targeted therapy.