TP53 Pro72 allele is enriched in oral tongue cancer and frequently mutated in esophageal cancer in India

PLoS One. 2014 Dec 1;9(12):e114002. doi: 10.1371/journal.pone.0114002. eCollection 2014.

Abstract

Purpose: The tumor suppressor p53 is known to be inactivated frequently in various cancers. In addition, germline polymorphisms in TP53 are known to affect protein function and influence risk of developing different types of cancers. In this study, we analyzed the association of TP53 Pro72Arg polymorphism with squamous cell carcinoma of oral tongue (SCCOT) and esophagus (ESCC) in India.

Methods: We assessed the distribution of TP53 Pro72Arg polymorphism in one hundred and fifteen and eighty two SCCOT and ESCC patients, respectively, with respect to one hundred and ten healthy controls from the same population. In addition, we analyzed association of the polymorphism with several clinico-pathological and molecular parameters.

Results: Pro72 allele was significantly enriched in SCCOT patients compared to the healthy control group but neither allele was enriched in ESCC. Interestingly, Pro72 allele was preferentially mutated in ESCC which was confirmed by analysis of samples heterozygous for Pro72Arg.

Conclusions: Our study revealed the association of Pro72 allele with SCCOT suggesting the effect of this polymorphism on SCCOT risk. Preferential mutation of Pro72 allele exclusively in ESCC indicates the need for further studies to understand the tissue specific effect of p53 polymorphism.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Base Sequence
  • Carcinoma, Squamous Cell / epidemiology
  • Carcinoma, Squamous Cell / genetics*
  • Carcinoma, Squamous Cell / pathology
  • Esophageal Neoplasms / epidemiology
  • Esophageal Neoplasms / genetics*
  • Esophageal Neoplasms / pathology
  • Esophageal Squamous Cell Carcinoma
  • Esophagus / metabolism
  • Esophagus / pathology
  • Female
  • Humans
  • India / epidemiology
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Mutation
  • Polymorphism, Genetic*
  • Tongue / metabolism
  • Tongue / pathology
  • Tongue Neoplasms / epidemiology
  • Tongue Neoplasms / genetics*
  • Tongue Neoplasms / pathology
  • Tumor Suppressor Protein p53 / genetics*

Substances

  • Tumor Suppressor Protein p53

Grants and funding

MDB received Indian Council for Medical Research (ICMR), Govt. of India (Grant No. 5/13/129/2009-NCD-III), Council of Scientific and Industrial Research (CSIR), Govt. of India (Grant No. 27(265)/12/EMR-II), Department of Biotechnology, Govt. of India (Grant No. BT/PR11873/MED/30/173/2009) and a core grant from the Department of Biotechnology, Govt. of India to Centre for DNA Fingerprinting and Diagnostics (CDFD). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.