Genome-wide analysis of constitutional DNA methylation in familial melanoma

Catarina Salgado, Nelleke Gruis, Bastiaan T. Heijmans, Jan Oosting, Remco Van Doorn*, r

*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
JournalClinical epigenetics
Issue number1
Publication statusPublished - 6 Mar 2020

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