Familial malignant melanoma of the uvea and p53: a Victorian detective story

Surv Ophthalmol. May-Jun 1993;37(6):457-62. doi: 10.1016/0039-6257(93)90142-t.

Abstract

In 1905, Parsons first described a family with a history of four generations with uveal melanoma associated with breast cancer. The family history has now been brought up to date using genealogical sources to determine the origin of this family which was traced to the East End of London in the early 19th century. In addition, immunohistochemical investigations have showed mutant p53, a tumor suppressor gene, in museum specimens of uveal melanoma after 150 years. This family probably represents the earliest example of the Li-Fraumeni syndrome on record.

Publication types

  • Historical Article
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Breast Neoplasms / history
  • Female
  • Genes, p53
  • History, 19th Century
  • Humans
  • Li-Fraumeni Syndrome / history
  • Melanoma / genetics
  • Melanoma / history*
  • Mutation
  • Pedigree
  • Uveal Neoplasms / genetics
  • Uveal Neoplasms / history*