Whole genome sequencing identifies recurrent mutations in hepatocellular carcinoma
Menée sur 88 paires d'échantillons de tissu tumoral et de tissu sain prélévés sur des patients atteints d'un carcinome hépatocellulaire (dont 81 tumeurs associées au virus de l'hépatite B), cette étude de séquençage du génome entier identifie les gènes les plus fréquemment mutés
Hepatocellular carcinoma (HCC) is one of the most deadly cancers worldwide and has no effective treatment, yet the molecular basis of hepatocarcinogenesis remains largely unknown. Here we report findings from a whole genome sequencing (WGS) study of 88 matched HCC tumor/normal pairs, 81 of which are HBV positive, seeking to identify genetically altered genes and pathways implicated in HBV-associated HCC. We find beta catenin to be the most frequently mutated oncogene (15.9%) and TP53 the most frequently mutated tumor suppressor (35.2%). The Wnt/beta catenin and JAK/STAT pathways, altered in 62.5% and 45.5% of cases respectively, are likely to act as two major oncogenic drivers in HCC. This study also identifies several prevalent and potentially actionable mutations including activating mutations of Janus Kinase 1 (JAK1) in 9.1% of patients and provides a path towards therapeutic intervention of the disease.