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Telomerase reverse transcriptase ( TERT ) mutation is the most frequent genetic alteration in hepatocellular carcinoma (HCC). Our aims were to investigate whether  TERT  mutations can be detected in circulating cell‐free DNA (cfDNA) of patients with HCC and/or cirrhosis and characterize clinical parameters associated with these mutations. We retrieved data on  TERT  C228T and C250T promoter mutations in 196 HCCs from The Cancer Genome Atlas. We measured these  TERT  mutations in plasma cfDNA in 218 patients with HCC and 81 patients with cirrhosis without imaging evidence of HCC. The prevalence of  TERT  mutations in The Cancer Genome Atlas HCC specimens was 44.4%.  TERT  mutations were detected with similar prevalence (47.7%) in plasma cfDNAs from 218 patients with HCC.  TERT  mutations, either within the HCC or in cfDNA, were associated with male sex, hepatitis C virus (HCV), alcoholic cirrhosis, family history of cancer, and poor prognosis. The high prevalence of  TERT  mutations in HCCs in male patients with cirrhosis caused by HCV and/or alcohol was confirmed in an independent set of HCCs (86.6%). Finally,  TERT  mutations were detected in cfDNA of 7 out of 81 (8.6%) patients with cirrhosis without imaging evidence of HCC, including 5 male patients with cirrhosis due to HCV and/or alcohol. Genes involved in xenobiotic and alcohol metabolism were enriched in HCCs with  TERT  mutations, and vitamin K2 was identified as an upstream regulator.  Conclusion :  TERT  mutations are detectable in plasma cfDNA. Long‐term imaging surveillance of patients with cirrhosis with cfDNA TERT mutations without evidence of HCC is required to assess their potential as early biomarkers of HCC. ( Hepatology Communications  2018;2:718‐731)

Telomerase reverse transcriptase mutations in plasma DNA in patients with hepatocellular carcinoma or cirrhosis: Prevalence and risk factors