Ziai James, Matloff Ellen, Choi Jaehyuk, Kombo Ninani, Materin Miguel, Bale Allen E
Department of Pathology,Yale School of Medicine,New Haven,CT,USA.
Department of Genetics,Yale School of Medicine,New Haven,CT,USA.
Genet Res (Camb). 2016 Mar 7;98:e5. doi: 10.1017/S0016672316000021.
Hereditary mixed polyposis is a genetically heterogeneous, autosomal dominant condition with adenomatous, hyperplastic and juvenile polyps. We conducted a comprehensive clinical evaluation of a large Ashkenazi Jewish family with this phenotype and performed extensive genetic testing. As seen in one previous report, a 40 kb duplication upstream of GREM1 segregated with the polyposis/colon cancer phenotype in this kindred. Our study confirms the association of GREM1 with mixed polyposis and further defines the phenotype seen with this mutation. This gene should be included in the test panel for all Jewish patients with mixed polyposis and may be considered in any Ashkenazi patient with unexplained hereditary colon cancer when mutations in other hereditary colon cancer genes have been ruled out.
遗传性混合性息肉病是一种具有腺瘤性、增生性和幼年性息肉的基因异质性常染色体显性疾病。我们对一个具有这种表型的大型阿什肯纳兹犹太家族进行了全面的临床评估，并进行了广泛的基因检测。正如之前一份报告中所显示的，GREM1基因上游40kb的重复片段在这个家族中与息肉病/结肠癌表型共分离。我们的研究证实了GREM1与混合性息肉病的关联，并进一步明确了这种突变所呈现的表型。对于所有患有混合性息肉病的犹太患者，该基因应纳入检测项目；当排除其他遗传性结肠癌基因的突变后，对于任何患有无法解释的遗传性结肠癌的阿什肯纳兹患者，也可考虑检测该基因。
