Author

M. Bohórquez

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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

Open access Sep 2026

Runs of Homozygosity and Signatures of Positive Selection in Colombian Native American Populations: Genetic Architecture and Demographic History.

OBJECTIVES Runs of homozygosity (ROHs) are suitable for studying population demographic history. This study analyzed whole-genome patterns of homozygosity and natural selection in Colombian indigenous populations to identify their role in population structure and demographic history. MATERIALS AND METHODS Individuals...

Á. Criollo-Rayo, Catalina Rubio-Vargas, Carlos Puentes et al. · American Journal of Biologic... · 0 citations