Genetic Study of Familial Intrahepatic Cholestasis Genes and Disease Risk in Hepatobiliary Cancers and Cholestatic Liver Diseases

What this Trial Is About

Researchers are exploring the presence of genetic mutations linked to cholestatic liver diseases and hepatobiliary cancers. This multicenter, cross-sectional tissue study aims to estimate how common these mutations are in people with these conditions, helping to form hypotheses for future research. It focuses on familial intrahepatic cholestasis-related genes and their possible role in disease susceptibility. The study collects patient medical histories, imaging tests like ultrasound, CT, and MRI, liver function tests, and bile acid levels. Non-invasive liver fibrosis tests and liver biopsies are also performed when applicable. Genetic analysis uses a multiplex PCR NGS panel covering 37 genes, and if needed, Whole Exome Sequencing is done for patients with hepatobiliary cancers on healthy livers or with a family history of related diseases. Tumor tissue is analyzed for somatic mutations to potentially support therapy choices or family screening. Participants provide clinical data, including liver function, response to treatment, fibrosis stage, and family histories. Data from surgeries for liver tumors, such as pre-operative assessments and outcomes, are also collected. Genetic findings are confirmed and counseling is offered. All information is stored electronically and analyzed to better understand the prevalence of pathogenic mutations in these liver conditions over a 3-year period.

Familial Intrahepatic Cholestasis-related Genes Associated with Disease Susceptibility in Hepato-biliary Cancers