Andreas Laner

Oct 1, 2024 | cell.com | Andreas Laner |Thomas Hansen |Marta Pineda

Keywords ACMG/AMP variant classification guidelines Adenomatous polyposis coli APC ClinGen familial adenomatous polyposis FAP InSiGHT Introduction Familial adenomatous polyposis (FAP; MIM: 175100) is an autosomal-dominant precancerous condition and the most common monogenic gastrointestinal polyposis syndrome caused by constitutional (germline) pathogenic variants (PVs) in the tumor suppressor gene APC (MIM: 611731).1,2,3 The colorectal phenotype exhibits high inter- and intra-familial...