Germline Variants in Childhood Cutaneous Melanoma

Peter A Johansson, Jane M Palmer, Hayley R Hamilton, David C Whiteman, Antonia L Pritchard, Nicholas K Hayward

Research output: Contribution to journalLetterpeer-review


Exposure to UVR and genetic variation associated with fair skin and the development of melanocytic nevi are the major risk factors for cutaneous melanoma (CM) ( Landi et al., 2020 ; Whiteman and Green, 1994 ). High-penetrance pathogenic variants associated with CM have been identified in several genes ( Abdel-Rahman et al., 2011 ; Aoude et al., 2015b ; Horn et al., 2013 ; Hussussian et al., 1994 ; Njauw et al., 2012 ; Robles-Espinoza et al., 2014 ; Zuo et al., 1996 ). Screening studies have estimated that 2–5% of patients with CM have a predisposing variant in one of the major high-penetrance genes: CDKN2A, CDK4, BAP1, and POT1 ( Aitken et al., 1999 ; Aoude et al., 2015a ; Begg et al., 2005 ; Simonin-Wilmer et al., 2022 ), leading to clusters of cases in families.
Original languageEnglish
Pages (from-to)1610-1613
Number of pages3
JournalJournal of Investigative Dermatology
Issue number8
Early online date28 Feb 2023
Publication statusPublished - 1 Aug 2023


Dive into the research topics of 'Germline Variants in Childhood Cutaneous Melanoma'. Together they form a unique fingerprint.

Cite this