Bmpr1a involvement in juvenile polyposis

摘要

Familial juvenile polyposis is an autosomal dominant disease characterized by a predisposition to hamartomatous polyps and gastrointestinal cancer. The present invention shows that JP families carry germline mutations in BMPR1A, a gene located at 10q22-23. Methods and compositions for the detection and amelioration of FJP and gastrointestinal tumors are provided.