Germline mutation prevalence in the base excision repair gene, MYH, in patients with endometrial cancer
Germline mutation prevalence in the base excision repair gene, MYH, in patients with endometrial cancer
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DOI：
10.1111/j.1399-0004.2007.00900.x
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发表时间：
2007-12-01
影响因子：
3.5
通讯作者：
Porteous, M. E.
中科院分区：
文献类型：
--
作者：
Barnetson, Rebecca A.;Devlin, L.;Porteous, M. E.
碱基切除修复基因MutY人类同源物（MYH）的种系突变最近被认为与遗传性多发性腺瘤息肉综合征和结直肠癌有关。尽管初步报告表明双等位基因突变携带者可能具有其他遗传性结肠癌综合征的一些临床特征，但结肠外病变的谱仍在研究中。在225例子宫内膜癌患者中，我们确定了1例携带MYH突变Y165 C和G382 D的复合杂合子，以及5例杂合子缺陷（3例G382 D和2例Y165 C）。具有双等位基因Y165 C/G382 D突变的患者还患有皮脂腺癌，这是Muir-Torre综合征的特征。虽然在杂合子携带者中检测到几个内含子多态性，但未发现其他致病性变体。虽然不是结论性的，但这一新颖而有趣的发现提供了MYH中双等位基因生殖系突变可能增加子宫内膜癌易感性的证据。
Germline mutations in the base excision repair gene, MutY human homolog (MYH), have recently been associated with a recessively inherited multiple adenoma polyposis syndrome and colorectal cancer. The spectrum of extracolonic lesions is still being characterized, although preliminary reports suggest that bi-allelic mutation carriers may share some of the clinical features of other hereditary colon cancer syndromes. Of 225 endometrial cancer patients, we identified one individual as a compound heterozygote, carrying mutations Y165C and G382D of MYH, and five individuals with heterozygous defects (three G382D and two Y165C). The patient with the bi-allelic Y165C/G382D mutation also had a sebaceous carcinoma, a feature of Muir-Torre syndrome. Although several intronic polymorphisms were detected in the heterozygous carriers, no other pathogenic variants were identified. While not conclusive, this novel and interesting finding provides evidence that bi-allelic germline mutations in MYH may increase susceptibility to endometrial cancer.