title: Defining the polyposis/colorectal cancer phenotype associated with the Ashkenazi GREM1 duplication: counselling and management recommendations.
abstract: 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.
authors.affiliation: Department of Pathology,Yale School of Medicine,New Haven,CT,USA.
authors.forename: James
authors.initials: J
authors.lastname: Ziai
authors.affiliation: Department of Genetics,Yale School of Medicine,New Haven,CT,USA.
authors.forename: Ellen
authors.initials: E
authors.lastname: Matloff
authors.affiliation: Department of Dermatology,Yale School of Medicine,New Haven,CT,USA.
authors.forename: Jaehyuk
authors.initials: J
authors.lastname: Choi
authors.affiliation: Department of Ophthalmology,Yale School of Medicine,New Haven,CT,USA.
authors.forename: Ninani
authors.initials: N
authors.lastname: Kombo
authors.affiliation: Department of Ophthalmology,Yale School of Medicine,New Haven,CT,USA.
authors.forename: Miguel
authors.initials: M
authors.lastname: Materin
authors.affiliation: Department of Genetics,Yale School of Medicine,New Haven,CT,USA.
authors.forename: Allen E
authors.initials: AE
authors.lastname: Bale
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000175:diagnosis* / Q000235:genetics*; D000328:Adult; D005260:Female; D020440:Gene Duplication; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D007585:Jews; D008297:Male; D010641:Phenotype; D055815:Young Adult
chemical_list: C486399:GREM1 protein, human; D036341:Intercellular Signaling Peptides and Proteins