Germline mutations predisposing to melanoma

Atrin Toussi, Nicole Mans, Jeanna Welborn, Maija Kiuru

Research output: Contribution to journalReview articlepeer-review

7 Scopus citations


Nearly 15% of melanomas occur in patients with a family history and a subset of these patients have a germline mutation in a melanoma predisposing gene. CDKN2A mutations are responsible for the majority of hereditary melanoma, but many other susceptibility genes have been discovered in recent years, including CDK4, TERT, ACD, TERF2IP, POT1, MITF, MC1R, and BAP1. Additionally, melanoma risk is increased in mixed cancer syndromes caused by mutations in PTEN, BRCA2, BRCA1, RB1, and TP53. While early onset, multiple tumors, and family cancer history remain the most valuable clinical clues for hereditary melanoma, characteristic epithelioid cytology of melanocytic tumors may suggest an underlying BAP1 mutation. Herein, we review the clinical and histopathologic characteristics of melanocytic tumors associated with these germline mutations and discuss the role of genetic counseling.

Original languageEnglish (US)
Pages (from-to)606-616
Number of pages11
JournalJournal of Cutaneous Pathology
Issue number7
StatePublished - Jul 1 2020


  • CDKN2A
  • germline mutation
  • hereditary
  • melanocytic nevus
  • melanoma

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Histology
  • Dermatology


Dive into the research topics of 'Germline mutations predisposing to melanoma'. Together they form a unique fingerprint.

Cite this