Phosphatidylinositol 3-kinase (PI3KCA) oncogene mutation analysis and gene expression profiling in primary breast

Mahesh Kandula1, Kalyan Kumar Chennaboina, Ammi Raju Ys

  • 1Department of Biotechnology, Krisani Biosciences Private Limited, India

Abstract

Insights

Mutations in the PIK3CA gene were found in 34% of breast cancers, with higher gene expression in tumor tissues. PIK3CA mutation detection may aid in breast cancer diagnosis and treatment selection.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • The phosphatidylinositol 3-kinase (PI3K) pathway is crucial for cell apoptosis, proliferation, and motility.
  • Investigating the PIK3CA gene's role in breast carcinomas is essential for understanding cancer development.

Purpose of the Study:

  • To analyze mutations and gene expression profiles of the PIK3CA gene in breast carcinomas.
  • To determine the potential role of PIK3CA alterations in breast cancer.

Main Methods:

  • Direct DNA sequencing of PIK3CA hotspots (exons 9 and 20) in 38 breast cancer biopsy samples.
  • Quantitative analysis of PIK3CA gene expression at the mRNA level using RT-PCR in tumor and control tissues.
  • Statistical analysis using Fisher's exact test to correlate mRNA levels.

Main Results:

  • Somatic mutations in PIK3CA were identified in 13 out of 38 cases (34% of patients).
  • Specific mutations found include G>A (E545K) in exon 9 (9/13 cases) and A>G in exon 20 (4/13 cases).
  • Significantly higher PIK3CA mRNA expression was observed in breast cancer tissues compared to control tissues (p=0.001).

Conclusions:

  • PIK3CA mutations are prevalent in breast cancer and represent a potential emerging tumor marker.
  • Detection of PIK3CA mutations may hold significant clinical implications for breast cancer diagnosis, progression monitoring, and therapeutic strategy.
  • Future applications may include utilizing PIK3CA mutation status to guide treatment selection.

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