Work

GREM1 germline mutation screening in Ashkenazi Jewish patients with familial colorectal cancer

Year: 2015

Type: article

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.

Source: Genetics Research

DOI: 10.1017/s0016672315000105

Authors: YAEL LAITMAN, EMMA JAEGER, LIOR KATZ, IAN TOMLINSON, EITAN FRIEDMAN

Institutions: Centre for Human Genetics, National Institute for Health and Care Research, Sheba Medical Center, Tel Aviv University

Language: English

Topic: Genetic factors in colorectal cancer

Subfield: Pathology and Forensic Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: Wellcome Trust, Cancer Research UK