Association of mismatch repair deficiency with PTEN frameshift mutations in endometrial cancers and the precursors in a Japanese population
Association of mismatch repair deficiency with PTEN frameshift mutations in endometrial cancers and the precursors in a Japanese population
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DOI：
10.1309/paaclg8dxdk0x2b1
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发表时间：
2005-07-01
影响因子：
3.5
通讯作者：
Inoue, M
中科院分区：
文献类型：
--
作者：
Kanaya, T;Kyo, S;Inoue, M
We studied mismatch repair deficiency and PTEN (phosphatase and tensin homologue deleted on chromosome 10) mutations in endometrial cancers and hyperplasias in a Japanese population. Methylation-sensitive restriction enzyme polymerase chain reaction revealed MLH1 hypermethylation in 21 (38%) of 56 endometrial cancers. Sequencing analysis revealed PTEN mutations in 22 patients with cancer (39%) in exons 5 and 8. A PTEN frameshift mutation was associated significantly with MLH1 hypermethylation (P =. 01) and a highly positive phenotype with microsatellite instability (P
