Meta-Analysis of MSH6 Gene Mutation Frequency in Colorectal and Endometrial Cancers
Meta-Analysis of MSH6 Gene Mutation Frequency in Colorectal and Endometrial Cancers
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结直肠癌和子宫内膜癌 MSH6 基因突变频率的荟萃分析
DOI：
10.1080/15287390902841003
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发表时间：
2009
期刊：
影响因子：
--
通讯作者：
Sui Zhu
中科院分区：
文献类型：
--
作者：
Yashuang Zhao;Fu;Fan Wang;B. Han;Dan;Xiang;Sui Zhu
自两例非典型遗传性非息肉病性结直肠癌患者首次报告MSH 6基因突变以来，已有关于MSH 6基因突变和突变频率的研究，主要集中在小样本中的新型突变。然而，结果仍然不一致。因此，我们进行了一项系统回顾和荟萃分析，以确定MSH 6突变在结直肠癌和子宫内膜癌中的频率。在27项研究中，在总共3196例病例中检测到180例MSH 6突变。在结直肠癌和子宫内膜癌中，MSH 6突变频率分别为7.2%和9.6%。遗传性非息肉病性结直肠癌患者MSH 6突变频率为10.4%，非典型遗传性非息肉病性结直肠癌患者为7.1%，散发患者为5.9%。高微卫星不稳定性（MSI-H）和低微卫星不稳定性（MSI-L）的MSH 6突变频率分别为11.6%和13.3%，均高于微卫星稳定性（MSS）的1.7%。在MSH 6突变携带者中，结直肠癌和子宫内膜癌最早发病的平均年龄分别为51.2岁和56.5岁。数据表明，遗传性非息肉病性结直肠癌患者的MSH 6突变频率高于非典型遗传性非息肉病性结直肠癌和散发患者。MSH 6突变频率在子宫内膜癌中也高于结直肠癌。在MSH 6突变携带者中，子宫内膜癌最早发病的平均年龄（56.5岁）大于结直肠癌（51.2岁）。我们的研究结果为临床基因检测和咨询提供了依据。
Studies on mutations and mutation frequencies of the MSH6 gene, which mainly focus on new types of mutations in small samples, have been published ever since the first report of MSH6 mutation in two atypical hereditary non-polyposis colorectal cancer patients. However, the results remain inconsistent. Therefore, a systematic review was conducted and a meta-analysis was undertaken to determine the frequency of MSH6 mutation in colorectal and endometrial cancers. From 27 studies, 180 cases with MSH6 mutation in a total of 3196 cases were detected. In colorectal and endometrial cancers the MSH6 mutation frequency is 7.2 and 9.6%, respectively. MSH6 mutation frequency was 10.4% in hereditary non-polyposis colorectal cancer patients, 7.1% in atypical hereditary non-polyposis colorectal cancer patients, and 5.9% in sporadic patients. The frequency of MSH6 mutation in high microsatellite instability (MSI-H) was 11.6% and in low microsatellite instability (MSI-L) cases was (13.3%), which were higher than in microsatellite stability (MSS) cases (1.7%). The mean age of the earliest onset of colorectal and endometrial cancers in MSH6 mutation carriers was 51.2 and 56.5 yr, respectively. Data suggest that the frequency of MSH6 mutation is higher in hereditary non-polyposis colorectal cancer patients than in atypical hereditary non-polyposis colorectal cancer and sporadic patients. MSH6 mutation frequency was also higher in endometrial than colorectal cancers. The mean age of earliest onset of endometrial cancer (56.5 yr) is older than for colorectal cancer (51.2 yr) in carriers of MSH6 mutation. Our results provide evidence for clinical genetic testing and counseling.
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影响因子：
45.3
作者：
Lu, Karen H.;Schorge, John O.;Broaddus, Russell R.
通讯作者：
Broaddus, Russell R.
影响因子：
11.2
作者：
R. Kolodner;J. Tytell;J. Schmeits;M. Kane;R. Gupta;J. Weger;S. Wahlberg;E. Fox;David Peel;A. Ziogas;J. Garber;S. Syngal;H. Anton-Culver;Frederick P. Li
通讯作者：
R. Kolodner;J. Tytell;J. Schmeits;M. Kane;R. Gupta;J. Weger;S. Wahlberg;E. Fox;David Peel;A. Ziogas;J. Garber;S. Syngal;H. Anton-Culver;Frederick P. Li
影响因子：
9.8
作者：
Wagner, A;Barrows, A;Fodde, R
通讯作者：
Fodde, R
影响因子：
11.2
作者：
Hampel, Heather;Frankel, Wendy;de la Chapelle, Albert
通讯作者：
de la Chapelle, Albert
影响因子：
3.5
作者：
Ohmiya, N;Matsumoto, S;Perucho, M
通讯作者：
Perucho, M