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

JAMES ZIAI, ELLEN MATLOFF, JAEHYUK CHOI, NINANI KOMBO, MIGUEL MATERIN, ALLEN E. BALE

Research output: Contribution to journalArticle

5 Citations (Scopus)

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.

Original languageEnglish (US)
Article numbere5
JournalGenetics Research
Volume98
DOIs
StatePublished - Mar 7 2016

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Colonic Neoplasms
Counseling
Colorectal Neoplasms
Phenotype
Mutation
Neoplasm Genes
Genetic Testing
Polyps
Genes

ASJC Scopus subject areas

  • Genetics

Cite this

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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.",
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Defining the polyposis/colorectal cancer phenotype associated with the Ashkenazi GREM1 duplication : Counselling and management recommendations. / ZIAI, JAMES; MATLOFF, ELLEN; CHOI, JAEHYUK; KOMBO, NINANI; MATERIN, MIGUEL; BALE, ALLEN E.

In: Genetics Research, Vol. 98, e5, 07.03.2016.

Research output: Contribution to journalArticle

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AU - ZIAI, JAMES

AU - MATLOFF, ELLEN

AU - CHOI, JAEHYUK

AU - KOMBO, NINANI

AU - MATERIN, MIGUEL

AU - BALE, ALLEN E.

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