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Defining the polyposis/colorectal cancer phenotype associated with the Ashkenazi GREM1 duplication: counselling and management recommendations.
Genetics Research ( IF 1.5 ) Pub Date : 2016-03-08 , DOI: 10.1017/s0016672316000021
James Ziai 1 , Ellen Matloff 2 , Jaehyuk Choi 3 , Ninani Kombo 4 , Miguel Materin 4 , Allen E Bale 2
Affiliation  

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.

中文翻译:

定义与Ashkenazi GREM1复制相关的息肉/结直肠癌表型:咨询和管理建议。

遗传性混合息肉是遗传性异质性常染色体显性遗传病,有腺瘤,增生性和幼年息肉。我们对具有这种表型的一个大型阿什肯纳兹犹太家庭进行了全面的临床评估,并进行了广泛的基因测试。如先前的一份报告所述,在该物种中,GREM1上游的40 kb复制与分离的息肉/结肠癌表型分离。我们的研究证实了GREM1与混合性息肉的关联,并进一步定义了该突变所见的表型。对于所有混合息肉的犹太患者,该基因应包括在测试组中,并且在排除了其他遗传性结肠癌基因突变的情况下,任何患有无法解释的遗传性结肠癌的阿什肯纳兹患者都可以考虑使用该基因。
更新日期:2019-11-01
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