A review of inherited cancer syndromes and their relevance to oral squamous cell carcinoma

S S Prime, N S Thakker, M Pring, P G Guest, I C Paterson

Research output: Contribution to journalReview article (Academic Journal)

44 Citations (Scopus)

Abstract

This paper examines the genetic defects associated with inherited cancer syndromes and their relevance to oral cancer. Tumour suppressor genes are now thought of as either gatekeepers or caretakers according to whether they control cell growth directly by inhibiting cell proliferation and/or promoting cell death (gatekeepers) or whether they maintain the integrity of the genome by DNA repair mechanisms (caretakers). In disorders such as xeroderma pigmentosum, ataxia telangiectasia, Bloom syndrome and Fanconi's anaemia, where there are defective caretaker genes, there is an increased incidence of second primary malignancies, including oral cancer. By contrast, with the exception of Li Fraumeni syndrome, abnormalities of gatekeeper genes do not predispose to oral cancer. Not only do Li Fraumeni patients develop second primary malignancies, but defects of the p53 pathway (p53 mutation, MDM2 over-expression, CDKN2A deletion) appear to be a ubiquitous feature of sporadic oral cancer as it occurs in the West. The findings suggest that genetic instability is of fundamental importance in the pathogenesis of oral cancer.

Translated title of the contributionA review of inherited cancer syndromes and their relevance to oral squamous cell carcinoma
Original languageEnglish
Pages (from-to)1 - 16
Number of pages16
JournalOral Oncology
Volume37
Issue number1
Publication statusPublished - 1 Jan 2001

Keywords

  • Carcinoma, Squamous Cell/genetics
  • Genes, Suppressor
  • Genetic Predisposition to Disease
  • Humans
  • Mouth Neoplasms/genetics
  • Neoplastic Syndromes, Hereditary/classification
  • Proto-Oncogenes

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