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.

Oncogene
|December 21, 2004
PubMed

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.

Related Concept Videos

Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
Cancer-Critical Genes I: Proto-oncogenes01:33

Cancer-Critical Genes I: Proto-oncogenes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
The Ras Gene02:38

The Ras Gene

The Ras-gene-encoded proteins are regulators of signaling pathways controlling cell proliferation, differentiation, or cell survival. The Ras-gene family in humans constitutes three primary members—the HRas, NRas, and KRas. These genes code for four functionally distinct yet closely related proteins—the HRas, NRas, KRas4A, and KRas4B. The involvement of mutant Ras genes in human cancer was first discovered in 1982 and is among the most common causes of human tumorigenesis.
Ras is a superfamily...
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
Cancer-Critical Genes I: Proto-oncogenes01:33

Cancer-Critical Genes I: Proto-oncogenes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...