Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

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