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.

中文翻译：

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德系犹太人家族性结直肠癌患者的 GREM1 种系突变筛查。

背景 在患有遗传性混合性息肉病综合征 (HMPS) 的德系家族中报道了 GREM1 基因上游的 40 kb 祖先种系重复。目的 评估 GREM1 突变对德系家族性结直肠癌 (CRC) 的贡献。方法 对犹太人德系犹太人（n = 472 155 名男性，317 名女性）进行 GREM1 重复基因分型，其中 194 人患有 CRC，131 人患有其他癌症类型（子宫内膜癌、胰腺癌和卵巢癌），这些癌症类型与 CRC 有综合征相关性，147 人患有癌症-免费，有提示性的 CRC 家族史。结果发现一名符合阿姆斯特丹林奇综合征（LS）标准的突变携带者。这种突变在 LS Ashkenazim 中的流行率为 0·7%。