Article
Identification of a novel GREM1 duplication in a patient with multiple colon polyps.
Familial cancer - 1 Jan 2019
McKenna Danielle B, Van Den Akker Jeroen, Zhou Alicia Y, Ryan Lauren, Leon Annette, O'Connor Robert, Shah Payal D, Rustgi Anil K, Katona Bryson W
Abstract excerpt
Hereditary mixed polyposis syndrome (HMPS) is a hereditary syndrome that is characterized by multiple colon polyps of mixed pathologic subtypes and an increased risk for colorectal cancer. A 40 kb duplication in the 5' regulatory region of the GREM1 gene was recently found to be the causal mutation in a subset of Ashkenazi Jewish families with HMPS. Given this discovery, the GREM1 5' regulatory region is now...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
