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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

DOI

10.1186/s13148-020-00831-7

Type

Journal article

Journal

Clin Epigenetics

Publication Date

06/03/2020

Volume

12

Keywords

DNA methylation, Epimutation, Familial melanoma, Loss of imprinting