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High incidence of PI3K pathway gene mutations in South Indian cervical cancers

Mathew Maria Rose1, Shankar Dhamodharan1, Sundaramoorthy Revathidevi2

  • 1Department of Genetics, Dr. ALM PG Institute of Basic Medical Sciences, University of Madras, Chennai, Tamil Nadu 600113, India.

Cancer Genetics
|May 14, 2022
PubMed
Abstract

Insights

Cervical cancer in India frequently shows mutations in phosphatidylinositol-3 kinase (PI3K) pathway genes. Targeting these PI3K pathway gene mutations offers potential therapeutic strategies for cervical cancer treatment.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • Cervical cancer is a significant health concern in India, ranking as the second most common cancer.
  • The phosphatidylinositol-3 kinase (PI3K) signaling pathway is frequently activated in various cancers and represents a key target for cancer therapies.
  • Understanding genetic alterations in this pathway is crucial for developing effective treatment strategies.

Purpose of the Study:

  • To analyze the frequency and spectrum of mutations in six key phosphatidylinositol-3 kinase (PI3K) pathway genes in South Indian cervical cancer patients.
  • To identify specific mutations within PI3K pathway genes that could be potential therapeutic targets.

Main Methods:

  • Targeted next-generation sequencing was employed to analyze mutations in six PI3K pathway genes: PIK3CA, PIK3R1, PTEN, AKT1, TSC2, and mTOR.
  • A cohort of 93 South Indian cervical cancer samples was studied.
  • Sanger sequencing was used for confirmation of identified mutations.

Main Results:

  • Mutations in the PI3K pathway genes were detected in 54.8% of the cervical tumors.
  • PIK3CA mutations were the most prevalent (34.4%), followed by TSC2 (18.3%) and PIK3R1 (14%).
  • Novel mutations were identified in PIK3R1, PTEN, AKT1, TSC2, and mTOR, with some tumors exhibiting multiple mutations. High-risk HPV16/18 was present in 60.7% of tumors.

Conclusions:

  • The high prevalence of PI3K pathway gene mutations in cervical cancer suggests their potential as therapeutic targets.
  • Exploiting these genetic alterations could lead to improved therapeutic management of cervical cancer.
Keywords:
Cervical cancerHPVMutationPI3K pathwayPIK3CA

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