Atypical HNPCC owing to MSH6 germline mutations:: analysis of a large Dutch pedigree
Atypical HNPCC owing to MSH6 germline mutations:: analysis of a large Dutch pedigree
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DOI：
10.1136/jmg.38.5.318
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发表时间：
2001-05-01
影响因子：
4
通讯作者：
Fodde, R
中科院分区：
文献类型：
--
作者：
Wagner, A;Hendriks, Y;Fodde, R
遗传性非息肉病性结直肠癌（HNPCC）是结直肠癌最常见的遗传易感性综合征。HNPCC最常由DNA错配修复（MMR）基因MSH2和MLH1的种系突变引起。最近，另一种MMR基因MSH6（也称为GTBP）的突变也被证明可导致HNPCC。初步数据表明，与MSH6突变相关的表型可能不同于由MSH2和MLH1缺陷引起的经典HNPCC。在这里，我们描述了一个扩展的荷兰HNPCC家族，不符合阿姆斯特丹标准II，由MSH6突变引起。总体而言，结直肠癌的外显率似乎显著降低(p
Hereditary non-polyposis colorectal cancer (HNPCC) is the most common genetic susceptibility syndrome for colorectal cancer. HNPCC is most frequently caused by germline mutations in the DNA mis-match repair (MMR) genes MSH2 and MLH1. Recently, mutations in another MMR gene, MSH6 (also known as GTBP), have also been shown to result in HNPCC. Preliminary data indicate that the phenotype related to MSH6 mutations may differ from the classical HNPCC caused by defects in MSH2 and MLH1.Here, we describe an extended Dutch HNPCC family not fulfilling the Amsterdam criteria II and resulting from a MSH6 mutation. Overall, the penetrance of colorectal cancer appears to be significantly decreased (p