In:
Genetics Research, Hindawi Limited, Vol. 97 ( 2015)
Abstract:
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.
Type of Medium:
Online Resource
ISSN:
0016-6723
,
1469-5073
DOI:
10.1017/S0016672315000105
Language:
English
Publisher:
Hindawi Limited
Publication Date:
2015
detail.hit.zdb_id:
2412684-6
detail.hit.zdb_id:
1472156-9
SSG:
12
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