Familial juvenile polyposis syndrome with a de novo germline missense variant in BMPR1A gene: a case report

Abstract excerpt

BACKGROUND: Juvenile polyposis syndrome (JPS) is a rare autosomal dominant hereditary disorder characterized by the development of multiple distinct juvenile polyps in the gastrointestinal tract with an increased risk of colorectal cancer. Germline mutations in two genes, SMAD4 and BMPR1A, have been identified to cause JPS. CASE PRESENTATION: Here, we report a germline heterozygous missense variant (c.299G > A)...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Genetic factors in colorectal cancer
• Share to Genomics and Rare Diseases
• Share to TGF-β signaling in diseases