Genetic susceptibility to head and neck squamous cell carcinoma

Int J Radiat Oncol Biol Phys. 2014 May 1;89(1):38-48. doi: 10.1016/j.ijrobp.2013.09.034.


Head-and-neck squamous cell carcinoma (HNSCC) is the sixth most common cancer worldwide, and its incidence is growing. Although environmental carcinogens and carcinogenic viruses are the main etiologic factors, genetic predisposition obviously plays a risk-modulating role, given that not all individuals exposed to these carcinogens experience the disease. This review highlights some aspects of genetic susceptibility to HNSCC: among others, genetic polymorphisms in biotransformation enzymes, DNA repair pathway, apoptotic pathway, human papillomavirus-related pathways, mitochondrial polymorphisms, and polymorphism related to the bilirubin-metabolized pathway. Furthermore, epigenetic variations, familial forms of HNSCC, functional assays for HNSCC risk assessment, and the implications and perspectives of research on genetic susceptibility in HNSCC are discussed.

Publication types

  • Review

MeSH terms

  • Apoptosis / genetics
  • Bilirubin / metabolism
  • Biotransformation
  • Carcinogens / metabolism
  • Carcinoma, Squamous Cell / enzymology
  • Carcinoma, Squamous Cell / genetics*
  • Carcinoma, Squamous Cell / virology
  • DNA Repair
  • DNA, Mitochondrial / genetics
  • E2F Transcription Factors / genetics
  • Epigenomics*
  • Genetic Predisposition to Disease*
  • Germ-Line Mutation
  • Head and Neck Neoplasms / enzymology
  • Head and Neck Neoplasms / genetics*
  • Head and Neck Neoplasms / virology
  • Humans
  • Papillomaviridae
  • Polymorphism, Genetic
  • Squamous Cell Carcinoma of Head and Neck


  • Carcinogens
  • DNA, Mitochondrial
  • E2F Transcription Factors
  • Bilirubin