John J. Suárez

Case Report: BMPR1A and BARD1 variants: first case identified in a Colombian family with juvenile polyposis syndrome

Introduction Juvenile polyposis syndrome (JPS) is a rare autosomal-dominant disorder characterized by numerous juvenile hamartomatous polyps in the gastrointestinal tract (GIT), increasing cancer risk. Pathogenic and likely pathogenic (P/LP) variants in the SMAD4 or BMPR1A genes are associated with JPS. Here, we presen...