Non-truncating BMPR1A variants associated with familial colorectal cancer and adenomatous polyps.

ABSTRACT:

Background

Pathogenic variants of the bone morphogenetic protein receptor type 1 A (BMPR1A) gene underlie juvenile polyposis syndrome (JPS), a rare autosomal dominant condition characterized by multiple gastrointestinal hamartomatous polyps. Recent findings indicate that constitutional BMPR1A variants can also be associated with various non-JPS phenotypes without hamartomatous polyps. The basis of varying genotype - phenotype relationships is poorly understood.

Methods

We investigated four families with non-truncating variants of BMPR1A affecting different functional domains. Clinical presentation resembled familial colorectal cancer type X-like syndrome with dominantly inherited microsatellite-stable gastrointestinal adenomas and carcinomas. To gain insights into genotype-p

SUBMITTER: Nieminen TT 

PROVIDER: S-EPMC12481737 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature