Whole-genome sequencign identifies recurring CTNNB1 and PNLIP1 mutations in NASH-related liver cancer. Homo sapiens

Nonalcoholic steatohepatitis (NASH) is increasingly recognized as a major cause of hepatocellular carcinoma (HCC). Despite this link, there is a paucity of information regarding the genetic alterations of HCC arising from NASH. Through whole-genome sequencing of three NASH-associated HCC and matched germline lymphocyte, and subsequent targeted sequencing in additional affected individuals, we discovered for the first time common mutations of CTNNB1 (36.4%), TP53 (15.2%) and PNLIP (12.1%) in this malignancy.