Mar Infante Sanz

Diagnostic Yield of Expanded Multigene Testing in Hereditary Polyposis Syndromes: Functional Characterization of Clinically Relevant Variants

Abstract Background/Aim: Hereditary polyposis syndromes comprise a genetically heterogeneous group of disorders characterized by multiple gastrointestinal polyps and an increased risk of colorectal cancer (CRC). Although pathogenic variants in APC and MUTYH account for a substant...