Features of patients with hereditary mixed polyposis syndrome caused by duplication of GREM1 and implications for screening and surveillance

Journal article

Hereditary mixed polyposis syndrome is a rare colon cancer predisposition syndrome caused by a duplication of a non-coding sequence near the gremlin 1, DAN family BMP antagonist gene (GREM1) originally described in Ashkenazi Jews. Few families with GREM1 duplications have been described, so there are many questions about detection and management. We report 4 extended families with the duplication near GREM1 previously found in Ashkenazi Jews; 3 families were identified at cancer genetic clinics in Israel and 1 family was identified in a cohort of patients with familial colorectal cancer. Their clinical features include extra-colonic tumors, onset of polyps in adolescence, and rapid progression of some polyps to advanced adenomas. One family met diagnostic criteria for Lynch syndrome. Expansion of the hereditary mixed polyposis syndrome phenotype can inform surveillance strategies for carriers of GREM1 duplications.

Authors: Lieberman, S; Walsh, T; Schechter, M; Adar, T; Goldin, E

• Publication status: Published
• Peer review status: Peer reviewed
• Publisher: Elsevier
• Journal: Gastroenterology More from this journal
• Volume: 152
• Issue: 8
• Pages: 1876–1880
• Publication date: 2017-02-24
• Acceptance date: 2017-02-16
• DOI: 10.1053/j.gastro.2017.02.014
• ISSN: 1528-0012, 0016-5085
• Language: English
• Keywords: colon cancer susceptibility; polyposis; CRC; HMPS1