Mutation of the SRC gene in endometrial carcinoma
Mutation of the SRC gene in endometrial carcinoma
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DOI：
10.1111/j.1349-7006.2000.tb00958.x
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发表时间：
2000-04-01
期刊：
影响因子：
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通讯作者：
Kudo, R
中科院分区：
文献类型：
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作者：
Sugimura, M;Kobayashi, K;Kudo, R
最近，SRC基因的激活突变与大约十分之一的晚期结肠癌有关。SRC 531突变导致SRC直接截短到调节性Tyr 530的C端，并且似乎激活Tyr 530。为了研究SRC突变在妇科肿瘤的发生和发展中是否起重要作用，我们对70例卵巢癌中SRC的整个编码区进行了突变分析，应用聚合酶链反应-单链构象多态性（PCR-SSCP）结合核苷酸序列测定和限制性片段长度多态性（RFLP）分析方法，对68例子宫内膜癌和3例子宫内膜间质肉瘤进行了研究。我们在一例子宫内膜癌中发现了一个531密码子的截短突变（Gln到Stop）。然而，我们在卵巢癌和子宫内膜间质肉瘤中没有发现该基因的突变。我们的研究结果表明，SRC的突变可能涉及一小部分子宫内膜癌。
Recently, an activating mutation of the SRC gene has been implicated in about one-tenth of advanced colon cancers. The SRC 531 mutation results in truncation of SRC directly C-terminal to the regulatory Tyr 530 and appears to activate the Tyr 530, To investigate whether mutation of SRC plays an important role in the development and progression of gynecological tumors, we performed mutational analysis of the entire coding region of SRC in 70 ovarian carcinomas, 68 endometrial carcinomas and 3 endometrial stromal sarcomas by means of polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) followed by nucleotide sequencing and restriction fragment Length polymorphism (RFLP) analysis. We found one truncated mutation at codon 531 (Gln to Stop) in an endometrial carcinoma. However, we found no mutation of this gene in ovarian carcinoma or endometrial stromal sarcoma. Our results suggest that mutation of SRC may be implicated in a small proportion of endometrial carcinomas.