Miyakura Yasuyuki, Sugano Kokichi, Fukayama Noriko, Konishi Fumio, Nagai Hideo
Department of Surgery, Jichi Medical School, Minami Kawachi, Tochigi, Japan.
Jpn J Clin Oncol. 2002 Jun;32(6):219-21. doi: 10.1093/jjco/hyf043.
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.
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。