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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.
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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.
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In humans, more than 80% of the genome gets transcribed. However, only around 2% of the genome codes for proteins. The remaining part produces non-coding RNAs which includes ribosomal RNAs, transfer RNAs, telomerase RNAs, and regulatory RNAs, among other types. A large number of regulatory non-coding RNAs have been classified into two groups depending upon their length – small non-coding RNAs, such as microRNA, which are less than 200 nucleotides in length, and long non-coding RNA...
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PIK3CA Mutations and Co-Mutations in Operated Non-Small Cell Lung Carcinoma.

Salih Cokpinar1, Ibrahim Halil Erdogdu2, Seda Orenay-Boyacioglu3

  • 1Department of Thoracic Surgery, School of Medicine, Aydin Adnan Menderes University, Aydin 09010, Türkiye.

Journal of Clinical Medicine
|December 17, 2024
PubMed
Summary

This study found PIK3CA mutations in all non-small cell lung carcinoma (NSCLC) patients, with common variants like E545K. These PIK3CA mutations, alongside others like KRAS and TP53, are crucial for personalized NSCLC treatment strategies.

Keywords:
NSCLCPIK3CA mutationco-mutationsmoking history

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Area of Science:

  • Oncology
  • Molecular Pathology
  • Genetics

Background:

  • Understanding PIK3CA mutations and co-mutations is vital for personalized non-small cell lung carcinoma (NSCLC) treatment.
  • This study investigates PIK3CA mutations and associated somatic variations in NSCLC patients.

Purpose of the Study:

  • To investigate PIK3CA mutations and accompanying somatic variations in non-small cell lung carcinoma (NSCLC).
  • To identify common PIK3CA variants and co-occurring mutations for potential targeted therapy development.

Main Methods:

  • Retrospective analysis of 98 NSCLC patients undergoing next-generation sequencing and ALK-ROS1 FISH analysis.
  • Data collected between January 2019 and June 2024 from patients aged over 18.

Main Results:

  • All 98 NSCLC patients analyzed harbored PIK3CA mutations.
  • The most frequent PIK3CA variants included c.1633G>A p.E545K (32.65%), c.1624G>A p.E542K (11.22%), and c.3140A>G p.H1047R (11.22%).
  • Commonly co-occurring mutations involved KRAS, NF1, TP53, and EGFR.

Conclusions:

  • PIK3CA variations, frequently observed in NSCLC, are critical in cancer progression.
  • The presence of PIK3CA and other gene variations significantly influences the determination of targeted treatment strategies for NSCLC.