Premium
Constitutional and functional genetics of human alcohol‐related hepatocellular carcinoma
Author(s) -
Nahon Pierre,
Nault JeanCharles
Publication year - 2017
Publication title -
liver international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.873
H-Index - 110
eISSN - 1478-3231
pISSN - 1478-3223
DOI - 10.1111/liv.13419
Subject(s) - hepatocellular carcinoma , cirrhosis , single nucleotide polymorphism , liver cancer , medicine , genome wide association study , genetics , arid1a , biology , bioinformatics , gene , mutation , genotype
Abstract Exploration of the constitutional genetics of hepatocellular carcinoma ( HCC ) has identified numerous variants associated with a higher risk of liver cancer in alcoholic cirrhotic patients. Although Genome‐Wide Association studies have not been carried out in the field of alcohol‐related HCC , common single nucleotide polymorphisms conferring a small increase in the risk of liver cancer risk have been identified and shown to modulate ethanol metabolism, inflammation, oxidative stress, iron or lipid metabolism. Specific patterns of gene mutations including CTNNB 1 , TERT , ARID 1A and SMARCA 2 exist in alcohol‐related HCC . Moreover, a specific mutational process observed at the nucleotide level by next generation sequencing has revealed cooperation between alcohol and tobacco in the development of HCC . Combining this genetic information with epidemiological and clinical data that might define specific HCC risk classes and refine surveillance strategies needs to be assessed in large prospective cohorts of patients with alcoholic cirrhosis.