The BMPR1A gene is associated with juvenile polyposis syndrome (JPS) which increase risks for gastrointestinal polyps, colorectal cancer, and gastric cancer. Management generally includes regular endoscopic surveillance, polyp removal, and cancer screening. BMPR1A-related conditions are not known to be more common in the Ashkenazi Jewish population.
Pathogenic variants (disease-causing) in BMPR1A exhibit autosomal dominant inheritance. This means there is a 50% chance the condition can be passed from generation-to-generation. First degree relatives (parents, siblings, children) have a 50% chance to have the same pathogenic variant whereas second degree relatives (grandparents, aunts/uncles, nieces/nephews, half-siblings) have a 25% chance. More distant relatives have lower chances of having the same pathogenic variant when one is identified in the family.
Resources:
Written December 2025
