Germ‐line mutations of the p16INK4(MTS1) gene occur in a subset of patients with hepatocellular carcinoma
P Chaubert, R Gayer, A Zimmermann, C Fontolliet, B Stamm, F Bosman, P Shaw – 30 December 2003 – The molecular mechanisms of hepatocarcinogenesis are poorly understood. Only very recently has there been a suggestion of familial hepatocellular carcinoma (HCC). We have analyzed the status of the p16INK4(MTS1) gene, a cyclin‐dependent kinase inhibitor, in 26 patients with HCC of different etiologies. Four patients carried hemizygous germ‐line point mutations of the p16INK4(MTS1) gene, suggesting the existence of familial HCC involving this gene.