PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas
PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas
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DOI：
10.1038/sj.onc.1208304
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发表时间：
2005-02-17
期刊：
影响因子：
8
通讯作者：
Lee, SH
中科院分区：
文献类型：
--
作者：
Lee, JW;Soung, YH;Lee, SH
最近的报道显示，磷酸肌醇-3-激酶，催化，α（PIK 3CA）基因在几种类型的人类癌症中发生体细胞突变，表明突变的PIK 3CA基因是人类癌症中的癌基因。然而，由于之前的报告主要集中在结肠癌的突变搜索，其他类型的人类癌症中PIK 3CA突变的数据在很大程度上是未知的。在这里，我们进行了突变分析的PIK 3CA基因的聚合酶链反应-单链构象多态性分析在668例常见的人类癌症，包括肝细胞癌，急性白血病，胃癌，乳腺癌，非小细胞肺癌。我们在73例肝细胞癌中的26例（35.6%）、93例乳腺癌中的25例（26.9%）、185例胃癌中的12例（6.5%）、88例急性白血病中的1例（1.1%）和229例非小细胞肺癌中的3例（1.3%）中检测到PIK 3CA体细胞突变。在乳腺癌、肝细胞癌和胃癌的早期病变中检测到一些PIK 3CA突变，表明PIK 3CA突变可能与肿瘤的分期无关。PIK 3CA基因突变在人类常见癌症中的高发生率和广泛分布表明，PIK 3CA突变导致的脂质激酶途径的改变有助于人类癌症的发生。
A recent report revealed that phosphoinositide-3-kinase, catalytic, alpha (PIK3CA) gene is somatically mutated in several types of human cancer, suggesting the mutated PIK3CA gene as an oncogene in human cancers. However, because the previous report focused the mutational search primarily on colon cancers, the data on PIK3CA mutations in other types of human cancers have been largely unknown. Here, we performed mutational analysis of the PIK3CA gene by polymerase chain reaction-single-strand conformation polymorphism assay in 668 cases of common human cancers, including hepatocellular carcinomas, acute leukemias, gastric carcinomas, breast carcinomas, and non-small-cell lung cancers. We detected PIK3CA somatic mutations in 26 of 73 hepatocellular carcinomas (35.6%), 25 of 93 breast carcinomas (26.9%), 12 of 185 gastric carcinomas (6.5%), one of 88 acute leukemias (1.1%), and three of 229 non-small-cell lung cancers (1.3%). Some of the PIK3CA mutations were detected in the early lesions of breast cancer carcinoma, hepatocellular carcinoma, and gastric carcinomas, suggesting that PIK3CA mutation may occur independent of stage of the tumors. The high incidence and wide distribution of PIK3CA gene mutation in the common human cancers suggest that alterations of lipid kinase pathway by PIK3CA mutations contribute to the development of human cancers.