Familial Intrahepatic Cholestasis-related Genes Associated with Disease Susceptibility in Hepato-biliary Cancers
This is a cross-sectional, multicenter tissue study with an exploratory aim to estimate the prevalence of genetic mutations that predispose individuals to diseases in the context of cholestatic disorders and hepatobiliary neoplasms. It is intended as a hypothesis-generating study for future empirical investigations.
• Instrumental or histological diagnosis of HBCs, defined as primary liver and/or biliary tumors (hepatocellular carcinoma, cholangiocarcinoma, hepatocholangiocarcinoma) occurring in patients without apparent underlying chronic liver disease or in the context of cryptogenic chronic liver disease;
• Curative treatment through surgical resection of the neoplasm or liver transplantation
• Diagnosis of CCLDs defined as:
‣ GGT and/or alkaline phosphatase \>1.5 times the normal values in two or more measurements taken at least 6 months apart,
⁃ A history of pruritus combined with \[BA\] \>10 mmol/l for a period of ≥6 months.
• Obtaining written informed consent