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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 publication




Journal article


Clinical epigenetics

Publication Date





Department of Dermatology, Leiden University Medical Center, Leiden, PO Box 9600, 2300 RC, Leiden, The Netherlands.


BIOS Consortium