Tumor suppressor genes in ophthalmology

Research output: Contribution to journalReview article

11 Scopus citations

Abstract

Tumor suppressor genes have a diversity of functions, but they have in common the property of inhibiting neoplastic transformation. When they become inactivated, a constraint is removed that allows cells to grow inappropriately. Mutations in these genes are now thought to be the initiating events in most cancers. The first tumor suppressor gene was discovered through its role in retinoblastoma, and many other tumor suppressor genes also have important ophthalmic manifestations. The first group of tumor suppressor genes to be discussed are those involved in retinoblastoma and uveal melanoma. These are among the most frequently mutated genes in human cancer and are key regulators of growth and homeostasis. The second group of genes is associated with specific hereditary tumor syndromes with ophthalmic manifestations. These genes function in a variety of molecular pathways and are associated with neoplastic and non-neoplastic abnormalities in restricted tissue distributions. Research on tumor suppressor genes continues to shed light on the molecular pathophysiology of ophthalmic tumors and will increasingly yield diagnostic and therapeutic applications. Copyright (C) 1999 Elsevier Science Inc.

Original languageEnglish (US)
Pages (from-to)235-246
Number of pages12
JournalSurvey of Ophthalmology
Volume44
Issue number3
DOIs
StatePublished - Nov 1 1999
Externally publishedYes

Keywords

  • Adenomatous polyposis coli
  • Neurofibromatosis
  • Retinoblastoma
  • Tuberous sclerosis
  • Tumor suppressor genes
  • Uveal melanoma
  • von Hippel-Lindau syndrome

ASJC Scopus subject areas

  • Ophthalmology

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