ArticleGenetics research2015
GREM1 germline mutation screening in Ashkenazi Jewish patients with familial colorectal cancer.
Article in Genetics research, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 18 citations in OpenAlex.
- Founder pathogenic variants in colorectal neoplasia susceptibility genes in Ashkenazi Jews undergoing colonoscopy.BJC reports · 2024Article
- How many is too many? Polyposis syndromes and what to do next.Current opinion in gastroenterology · 2022Review
- Hereditary cancer screening: Case reports and review of literature on ten Ashkenazi Jewish founder mutations.Molecular genetics & genomic medicine · 2018Review
- Gastric Hamartomatous Polyps-Review and Update.Clinical medicine insights. Gastroenterology · 2016Review
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
Abstract
backgroundA 40 kb ancestral germline duplication upstream of the GREM1 gene was reported in Ashkenazi families with hereditary mixed polyposis syndrome (HMPS).
objectiveAssess the contribution of the GREM1 mutation to familial colorectal cancer (CRC) in Ashkenazim.
methodsJewish 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.
resultsOne mutation carrier was found who fulfills the Amsterdam criteria for Lynch Syndrome (LS). The prevalence of this mutation amongst LS Ashkenazim is 0·7%.
conclusionIf 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.
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