Mutations at the APC exon 15 in the colorectal neoplastic tissues of serial array

被引:12
作者
Kim, JC [1 ]
Koo, KH [1 ]
Lee, DH [1 ]
Roh, SA [1 ]
Kim, HC [1 ]
Yu, CS [1 ]
Kang, GH [1 ]
机构
[1] Univ Ulsan, Coll Med, Dept Surg, Songpa Ku, Seoul 138736, South Korea
关键词
APC; exon; 15; colorectal adenoma; colorectal carcinoma;
D O I
10.1007/s003840000283
中图分类号
R57 [消化系及腹部疾病];
学科分类号
摘要
Although the APC protein is known to participate in cellular proliferation and apoptosis, APC mutations have been thought to play a major role in the early stage of colorectal tumorigenesis. The somatic APC mutation of exon 15 was assessed to determine its impact on various stages of colorectal tumorigenesis. The colorectal neoplastic tissues of serial array studied included sporadic adenomas (group 1, n=36), adenomas (group 2, n=33), and carcinomas (group 3, n=32) in the synchronous adenoma and carcinoma as well as sporadic carcinomas (group 4, n=36). Aberrant DNA was detected by protein truncation test and confirmed by direct sequencing. The mutation prevalence was 36.1% in group 1, 45.5% in group 2, 59.4% in group 3, and 41.7% in group 4 with no differences among the groups. Among the 18 patients with synchronous adenoma and carcinoma, 9 had mutation in their adenomas and 12 in their carcinomas. The mutation loci and patterns did not differ in adenomas and carcinomas. Mutations in the mutation cluster region (MCR) were much more frequent than in the preceding region of MCR, i.e., 85.7% vs. 14.3%. The mutation prevalence of villous adenomas appeared greater than that of tubular adenoma (3/21 vs. 3/4). Predominant pathogenic mutations at MCR suggest that the APC mutation is implicated in all stages of colorectal tumorigenesis.
引用
收藏
页码:102 / 107
页数:6
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