Frequent somatic mutation of the MTS1/CDK4I (multiple tumor suppressor/cyclin-dependent kinase 4 inhibitor) gene in esophageal squamous cell carcinoma.
Frequent somatic mutation of the MTS1/CDK4I (multiple tumor suppressor/cyclin-dependent kinase 4 inhibitor) gene in esophageal squamous cell carcinoma.
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发表时间：
1994-07
期刊：
影响因子：
11.2
通讯作者：
Takahiro Mori;Koh Miura;T. Aoki;T. Nishihira;Shozo Mori;Yusuke Nakamura
中科院分区：
文献类型：
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作者：
Takahiro Mori;Koh Miura;T. Aoki;T. Nishihira;Shozo Mori;Yusuke Nakamura
我们之前报道了食管癌中9p染色体的杂合性缺失，并提示位于该染色体臂上的肿瘤抑制基因可能参与了这些癌症的发展。由于最近发表的研究表明，定位于染色体9p21上的基因MTS1/CDK4I（多种肿瘤抑制因子1/周期蛋白依赖性激酶4抑制剂）在各种类型的肿瘤中经常发生突变，我们选择检查食管鳞状细胞癌中该候选基因的突变。DNA序列分析显示，27例肿瘤中有14例存在MTS1/CDK4I体细胞突变；8例为移帧突变，6例为错义突变。这些结果提示MTS1/CDK4I基因是一种抑癌基因，其失活在食管癌鳞状细胞型的癌变过程中起重要作用。
We previously reported frequent loss of heterozygosity on chromosome 9p in esophageal carcinomas and suggested that a tumor suppressor gene located on this chromosomal arm might be involved in development of these cancers. Since recently published studies have shown that a gene mapped on chromosome 9p21, MTS1/CDK4I (multiple tumor suppressor 1/cyclin-dependent kinase 4 inhibitor), is frequently mutated in various types of tumors, we chose to examine esophageal squamous cell carcinomas for mutations in this candidate gene. DNA sequence analyses revealed somatic mutations of MTS1/CDK4I in 14 of 27 tumors examined; 8 were frame-shift mutations and 6 were missense mutations. These results suggested that the MTS1/CDK4I gene is a tumor suppressor the inactivation of which plays an important role during carcinogenesis of the squamous cell type of esophageal carcinoma.