Familial malignant melanoma of the uvea and p53: a Victorian detective story.
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.
Department of Clinical Ophthalmology, Institute of Ophthalmology, London, England.
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D000328:Adult; D001943:Breast Neoplasms / Q000266:history; D005260:Female; D016158:Genes, p53; D049672:History, 19th Century; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000266:history; D008545:Melanoma / Q000235:genetics / Q000266:history*; D009154:Mutation; D010375:Pedigree; D014604:Uveal Neoplasms / Q000235:genetics / Q000266:history*