Germline Bone Morphogenesis Protein Receptor 1A Mutation Causes Colorectal Tumorigenesis in Hereditary Mixed Polyposis Syndrome

Abstract

Germline BMPR1A defect is the disease-causing mutation in 50% of the HMPS families. If patients present with mixed morphology polyps in the large bowel that are autosomal dominantly inherited and corresponding absence of upper gastrointestinal abnormalities, the gene to begin mutation screening should be BMPR1A rather than APC.