GREM1 germline mutation screening in Ashkenazi Jewish patients with familial colorectal cancer.
作者： YAEL LAITMAN , EMMA JAEGER , LIOR KATZ , IAN TOMLINSON , EITAN FRIEDMAN
DOI: 10.1017/S0016672315000105
关键词:
摘要: 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 contribution mutation to familial colorectal cancer (CRC) Ashkenazim. Methods: Jewish individuals (n = 472 155 males, 317 females) were genotyped for duplication, 194 CRC, 131 had other types (endometrial, pancreatic and ovarian) that show a syndromic association 147 cancer-free suggestive family history CRC. Results: One carrier found who fulfills Amsterdam criteria Lynch Syndrome (LS). The prevalence this amongst LS Ashkenazim is 0·7%. Conclusion: If validated additional studies it seems rational recommend look founder multiple polyps and/or fulfill LS.
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