Genome-wide analysis of constitutional DNA methylation in familial melanoma

Catarina Salgado, Nelleke Gruis, Bastiaan T Heijmans, Jan Oosting, Remco van Doorn*, BIOS Consortium, Aaron Isaacs

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


BACKGROUND: Heritable epigenetic alterations have been proposed as an explanation for familial clustering of melanoma. Here we performed genome-wide DNA methylation analysis on affected family members not carrying pathogenic variants in established melanoma susceptibility genes, compared with healthy volunteers.

RESULTS: All melanoma susceptibility genes showed the absence of epimutations in familial melanoma patients, and no loss of imprinting was detected. Unbiased genome-wide DNA methylation analysis revealed significantly different levels of methylation in single CpG sites. The methylation level differences were small and did not affect reported tumour predisposition genes.

CONCLUSION: Our results provide no support for heritable epimutations as a cause of familial melanoma.

Original languageEnglish
Article number43
Pages (from-to)43
Number of pages7
JournalClinical epigenetics
Issue number1
Publication statusPublished - 6 Mar 2020
Externally publishedYes


  • CDKN2A
  • DNA methylation
  • Epimutation
  • Familial melanoma
  • GENE
  • Loss of imprinting
  • MLH1
  • MSH2

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