Defining the polyposis/colorectal cancer phenotype associated with the Ashkenazi GREM1 duplication: counselling and management recommendations.

Journal Article (Journal Article)

Hereditary mixed polyposis is a genetically heterogeneous, autosomal dominant condition with adenomatous, hyperplastic and juvenile polyps. We conducted a comprehensive clinical evaluation of a large Ashkenazi Jewish family with this phenotype and performed extensive genetic testing. As seen in one previous report, a 40 kb duplication upstream of GREM1 segregated with the polyposis/colon cancer phenotype in this kindred. Our study confirms the association of GREM1 with mixed polyposis and further defines the phenotype seen with this mutation. This gene should be included in the test panel for all Jewish patients with mixed polyposis and may be considered in any Ashkenazi patient with unexplained hereditary colon cancer when mutations in other hereditary colon cancer genes have been ruled out.

Full Text

Duke Authors

Cited Authors

  • Ziai, J; Matloff, E; Choi, J; Kombo, N; Materin, M; Bale, AE

Published Date

  • March 7, 2016

Published In

Volume / Issue

  • 98 /

Start / End Page

  • e5 -

PubMed ID

  • 26947005

Pubmed Central ID

  • PMC6865171

Electronic International Standard Serial Number (EISSN)

  • 1469-5073

Digital Object Identifier (DOI)

  • 10.1017/S0016672316000021


  • eng

Conference Location

  • England