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BACKGROUND: A 40 kb ancestral germline duplication upstream of the GREM1 gene was reported in Ashkenazi families with hereditary mixed polyposis syndrome (HMPS). OBJECTIVE: Assess the contribution of the GREM1 mutation to familial colorectal cancer (CRC) in Ashkenazim. METHODS: Jewish Ashkenazi individuals (n = 472 155 males, 317 females) were genotyped for the GREM1 duplication, 194 with CRC, 131 had other cancer types (endometrial, pancreatic and ovarian) that show a syndromic association with CRC, and 147 were cancer-free with a suggestive family history of CRC. RESULTS: One mutation carrier was found who fulfills the Amsterdam criteria for Lynch Syndrome (LS). The prevalence of this mutation amongst LS Ashkenazim is 0·7%. CONCLUSION: If validated in additional studies it seems rational to recommend to look for the GREM1 founder mutation in Ashkenazi individuals with multiple colorectal polyps and/or fulfill the criteria for LS.

Original publication

DOI

10.1017/S0016672315000105

Type

Journal article

Journal

Genet Res (Camb)

Publication Date

20/05/2015

Volume

97

Keywords

Adult, Aged, Aged, 80 and over, Colorectal Neoplasms, Colorectal Neoplasms, Hereditary Nonpolyposis, DNA Mutational Analysis, Family Health, Female, Genetic Predisposition to Disease, Genetic Testing, Germ-Line Mutation, Humans, Intercellular Signaling Peptides and Proteins, Jews, Male, Middle Aged, Young Adult