PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas
Jong Woo Lee1, Young Hwa Soung, Su Young Kim
1Department of Pathology, College of Medicine, Catholic University of Korea, 505 Banpo-dong, Socho-gu, Seoul 137-701, Korea.
Abstract:
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.
Insights
The phosphoinositide-3-kinase, catalytic, alpha (PIK3CA) gene is frequently mutated in common human cancers, including breast and liver cancers. These PIK3CA mutations may contribute to cancer development by altering the lipid kinase pathway.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Somatic mutations in the phosphoinositide-3-kinase, catalytic, alpha (PIK3CA) gene have been identified in various human cancers.
- Previous research primarily focused on PIK3CA mutations in colon cancer, leaving data on other cancer types largely unknown.
Purpose of the Study:
- To investigate the frequency and distribution of PIK3CA gene mutations across a range of common human cancers.
- To determine if PIK3CA mutations occur early in tumorigenesis and are independent of tumor stage.
Main Methods:
- Mutational analysis of the PIK3CA gene was performed using polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) assay.
- The study analyzed 668 cases of common human cancers, including hepatocellular carcinomas, acute leukemias, gastric carcinomas, breast carcinomas, and non-small-cell lung cancers.
Main Results:
- PIK3CA somatic mutations were detected in 35.6% of hepatocellular carcinomas, 26.9% of breast carcinomas, 6.5% of gastric carcinomas, 1.1% of acute leukemias, and 1.3% of non-small-cell lung cancers.
- Mutations were observed in early lesions of breast, hepatocellular, and gastric carcinomas, suggesting PIK3CA mutations can occur independently of tumor stage.
Conclusions:
- The high incidence and broad distribution of PIK3CA gene mutations in common human cancers suggest its role as an oncogene.
- Alterations in the lipid kinase pathway due to PIK3CA mutations likely contribute to the development of human cancers.
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