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Oral Cancer

, Volume 2, Issue 3–4, pp 83–89 | Cite as

Single nucleotide polymorphism rs17849071 G/T in the PIK3CA gene is inversely associated with oral cancer

  • Sejal Shah
  • Girish Mishra
  • Kiran KaliaEmail author
Original Article
Part of the following topical collections:
  1. Basic Science

Abstract

Purpose

Oral squamous cell carcinoma (OSCC)—a subset of head and neck cancer is the sixth most common cancer worldwide and leading disease in India. The genes involved in PI3 K/AKT (Phosphatidylinositol 3-kinase—Akt) pathway, such as PIK3CA (Phosphoinositide-3-kinase catalytic α) and PTEN (Phosphatase and tensin homologue) were found to be associated with OSCC. The present study was aimed to find the genetic association of various polymorphisms in intron 9 of the PIK3CA gene and intron 5 of PTEN gene with primary OSCC tumors.

Methodology

50 OSCC patients for PIK3CA gene, 60 OSCC patients for PTEN gene and 72 healthy individuals were included in the study. PCR-direct sequencing analyzed the polymorphisms in intron 9 of PIK3CA and intron 5 of PTEN gene.

Results and conclusion

We observed rs114587137 (C>T) and rs17849071 (T>G) SNPs in intron 9 of the PIK3CA gene and rs35560700 (C>T) SNP in intron 5 of the PTEN gene. T allele of rs17849071 (T>G) was associated with the high-risk allele for developing OSCC; while G allele seemed to have the protective effect against OSCC (P = 0.02). We found an inverse association of rs17849071 (T>G) with OSCC development.

Keywords

OSCC PIK3CA PTEN SNP Indian 

Abbreviations

PIK3CA

Phosphoinositide-3-kinase catalytic α

PTEN

Phosphatase and tensin homologue

OSCC

Oral squamous cell carcinoma

HNSCC

Head and neck squamous cell carcinomas

SNP

Single nucleotide polymorphism

Notes

Acknowledgements

We acknowledge the Dean and medical staff of the Pramukh Swami Medical College and Hospital, Karamsad, for the collection of cancerous as well as healthy tissues for the present study. Sejal Shah has been awarded as a woman scientist in this project.

Funding

Department of Science and Technology, Women Scientist Scheme-A, New Delhi, India. Sanction no: -SR/WOS-A/LS/511/2011-G dated on 24/5/2012.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

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Copyright information

© Springer Nature Switzerland AG 2018

Authors and Affiliations

  1. 1.Lab #103 B, BRD School of BiosciencesSardar Patel UniversityVallabh VidhyanagarIndia
  2. 2.Otolaryngologist and Head and Neck Surgeon, E N T DepartmentP. S. Medical CollegeKaramsadIndia
  3. 3.National Institute of Pharmaceuticals Education and Research (NIPER) AhmedabadGandhinagarIndia
  4. 4.Department of Microbiology, School of ScienceRK UniversityRajkotIndia

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