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Analysis of PIK3CA mutation prevalence variation among colorectal cancer populations: a comprehensive review

Vital M1

  • 1Molecular Genetics Unit. School of Chemistry, Universidad de la República, Montevideo, Uruguay. mvital@fq.edu.uy.

Molecular Biology Reports
|November 19, 2025
PubMed

Insights

This systematic review found the global prevalence of PIK3CA gene mutations in colorectal cancer (CRC) tumors averages 13.7%. Mutations were more frequent in exon 9 than exon 20, but influencing factors remain unclear.

Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Colorectal cancer (CRC) is a significant global health concern, ranking as the third most frequent cancer and second leading cause of cancer-related death.
  • Activating mutations in the PIK3CA gene are frequently observed in colorectal tumors, particularly at hotspots E542, E545, and H1047.

Purpose of the Study:

  • To systematically review and compare the prevalence of PIK3CA gene mutations across diverse colorectal tumors.
  • To analyze mutation frequency in relation to geographical location and specific gene exons.

Main Methods:

  • A systematic review encompassing 97 studies with a total of 48,446 patients.
  • Data extraction and analysis of PIK3CA mutation prevalence in colorectal tumors from eligible studies.

Main Results:

  • The global mean prevalence of PIK3CA mutations in colorectal tumors was 13.7%, with a wide range (0-80%) reported across studies.
  • Mutations were more prevalent in exon 9 (9.5%) compared to exon 20 (4.7%).
  • Prevalence varied significantly, with 29 studies reporting over 15% mutation frequency.

Conclusions:

  • PIK3CA gene mutations are a common finding in colorectal cancer, with notable variations in prevalence globally.
  • While exon 9 mutations are more frequent than exon 20, the primary factors driving these prevalence differences require further investigation.
Keywords:
Colorectal cancerMutationPIK3CAPrevalence

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