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结肠癌中K-ras癌基因第12和22密码子的并发突变。

Concurrent mutations of K-ras oncogene at codons 12 and 22 in colon cancer.

作者信息

Miyakura Yasuyuki, Sugano Kokichi, Fukayama Noriko, Konishi Fumio, Nagai Hideo

机构信息

Department of Surgery, Jichi Medical School, Minami Kawachi, Tochigi, Japan.

出版信息

Jpn J Clin Oncol. 2002 Jun;32(6):219-21. doi: 10.1093/jjco/hyf043.

Abstract

K-ras mutation is the most common oncogenic alteration in various human cancers including colorectal carcinomas. Point mutations have the potential to activate the K-ras gene if they occur in the critical coding sequences. Almost all of these mutations have been localized in codons 12, 13 and 61. We report a case of colon cancer presenting point mutations at both codons 12 and 22 of the K-ras gene. PCR-SSCP and subsequent sequencing revealed that GGT (glycine, wild-type) to AGT (serine) substitution at codon 12 and CAG (glutamine, wild-type) to CGG (arginine) substitution at codon 22 occurred in the same allele.

摘要

K-ras突变是包括结直肠癌在内的多种人类癌症中最常见的致癌性改变。如果点突变发生在关键编码序列中,则有可能激活K-ras基因。几乎所有这些突变都定位在密码子12、13和61处。我们报告了1例结肠癌患者,其K-ras基因的密码子12和22均出现点突变。PCR-SSCP及随后的测序显示,同一等位基因中发生了密码子12处GGT(甘氨酸,野生型)到AGT(丝氨酸)的替换以及密码子22处CAG(谷氨酰胺,野生型)到CGG(精氨酸)的替换。

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