Genome-wide analysis of constitutional DNA methylation in familial melanoma.

作者：Salgado, Catarina; Gruis, Nelleke; Heijmans, Bastiaan T; Oosting, Jan; van Doorn, Remco^*

来源：Clin Epigenetics, 2020, 12(1): 43.

DOI：10.1186/s13148-020-00831-7

• DNA methylation
• Epimutation
• Familial melanoma
• Loss of imprinting

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.

• 单位
  Leiden University Medical Center