Genome-wide analysis of constitutional DNA methylation in familial melanoma

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Abstract

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
Volume12
Issue number1
DOIs
Publication statusPublished - 6 Mar 2020

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