Familial atypical multiple mole melanoma (FAMMM) syndrome: history, genetics, and heterogeneity

Henry T. Lynch, Trudy G. Shaw

Research output: Contribution to journalArticlepeer-review

12 Scopus citations

Abstract

Approximately 5–10 % of cutaneous melanoma occurs in kindreds with a hereditary predisposition. Mutations in the CDKN2A gene are found to occur in approximately 20–40 % of these kindreds. The first historical mention of what is now called the familial atypical multiple mole melanoma syndrome appears to be from 1820, with more reports throughout the 1950s, 1960s, and later years. In 1991, Lynch and Fusaro described an association between familial multiple mole melanoma and pancreatic cancer and work continues to elucidate the syndrome’s genotypic and phenotypic heterogeneity. Individuals at risk for familial melanoma need periodic screenings. Unfortunately, adequate screening for pancreatic cancer does not currently exist, but pancreatic cancer’s prominence in the hereditary setting will hopefully act as a stimulus for development of novel screening measures.

Original languageEnglish (US)
Pages (from-to)487-491
Number of pages5
JournalFamilial cancer
Volume15
Issue number3
DOIs
StatePublished - Jul 1 2016

All Science Journal Classification (ASJC) codes

  • Genetics
  • Oncology
  • Genetics(clinical)
  • Cancer Research

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