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Absence of the frequently reported PIK3CA, CASP8, and NOTCH1 mutations in South Indian oral cancers

G Arunkumar1, A K Murugan2, M Nagarajan1

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

Oral Diseases
|February 10, 2017
PubMed
Abstract

Insights

This study investigated PIK3CA, CASP8, and NOTCH1 gene mutations in South Indian oral cancers. No mutations were found, suggesting these specific gene alterations are uncommon in this population.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • Somatic mutations in PIK3CA, CASP8, and NOTCH1 are implicated in various human cancers.
  • Understanding the genetic landscape of oral cancer is crucial for targeted therapies.

Purpose of the Study:

  • To analyze the mutational status of PIK3CA, CASP8, and NOTCH1 genes in South Indian oral cancer patients.
  • To establish a baseline for genetic alterations in this specific demographic.

Main Methods:

  • Mutational analysis of PIK3CA (exons 9, 20), CASP8 (exon 9), and NOTCH1 (exons 5-9) in 96, 48, and 44 oral cancer samples, respectively.
  • Polymerase chain reaction (PCR) amplification followed by Sanger sequencing was employed.

Main Results:

  • No mutations were detected in PIK3CA, CASP8, or NOTCH1 genes.
  • Frequent single nucleotide polymorphisms (SNPs) were observed: rs17849079 in PIK3CA (36.4%) and rs1045487 in CASP8 (66.6%).

Conclusions:

  • This is the first study to report on PIK3CA, CASP8, and NOTCH1 mutations in South Indian oral cancers.
  • The findings suggest that mutations in these specific genes may be infrequent in South Indian oral cancer, or alternative genetic alterations within the pathway may be involved.
Keywords:
CASP8HNSCCNOTCH1OSCCPIK3CAmutationoral cancer

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