Author

Andrea Catalina Rubio-Vargas

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Case report Open access Aug 2026

First report of MUTYH-associated polyposis with c.1353_1355del and c.452A>G mutations in Tolima Grande region from Colombia: a case report

Introduction The MUTYH gene encodes a protein involved in DNA repair and is known for MUTYH-associated polyposis (MAP), a rare autosomal recessive condition that predisposes individuals to colorectal cancer (CRC), colorectal polyps and familial colorectal cancer syndrome. Case report We describe the first Tolima Grande...

Mabel E Bohorquez-Lozano, John Suarez-Olaya, Andrea Catalina Rubio-Vargas et al. · Frontiers in Oncology · 0 citations

Case report Open access Aug 2026

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...

John J. Suárez, Jennyfer Benavides, Andrea Catalina Rubio-Vargas et al. · Frontiers in Oncology · 0 citations