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Genetic variants in the mTOR pathway with renal cancer risk and subtypes in East Indian population

Subhajit Malakar1, Srilagna Chatterjee2, Madhusudhan Das2

  • 1Department of Urology, IPGME&R and SSKM Hospital, Kolkata, West Bengal, India.

Urologia
|January 11, 2024
PubMed
Abstract

Insights

Genetic variants in the MTOR and AKT1 genes are linked to clear cell Renal Cell Carcinoma (RCC). This finding may lead to personalized treatments and targeted screening for kidney cancer.

Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Renal Cell Carcinoma (RCC) is a significant malignancy with a male predominance.
  • The phosphoinositide-3-kinase-protein kinase B/Akt (PI3K/Akt) and mTOR pathways are crucial in cell growth and RCC pathogenesis.

Purpose of the Study:

  • To investigate the association between genetic polymorphisms in key pathway genes and clear cell RCC.
  • To identify potential genetic markers for RCC risk and therapeutic targeting.

Main Methods:

  • A prospective observational study design was employed.
  • DNA isolation and sequencing were performed on tissue samples.
  • Polymorphism analysis was conducted on the MTOR, AKT1, and PIK3CA genes.

Main Results:

  • An intronic variant in the MTOR gene (rs3737611) was significantly associated with clear cell RCC.
  • A specific variant in the AKT1 gene (rs2498797) also showed a significant association with clear cell RCC.
  • No significant association was found for PIK3CA gene variants.

Conclusions:

  • Genetic variations in MTOR and AKT1 are implicated in the pathogenesis of clear cell RCC.
  • These findings could inform the development of personalized treatment strategies and targeted therapies.
  • Identifying at-risk individuals for enhanced screening or preventative measures is a potential application.
Keywords:
AKTPI3KCARCCmTORpolymorphism

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