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.
Overview publication
Title | Genome-wide analysis of constitutional DNA methylation in familial melanoma. |
Date | March 6th, 2020 |
Issue name | Clinical epigenetics |
Issue number | v12.1:43 |
DOI | 10.1186/s13148-020-00831-7 |
PubMed | 32143689 |
Authors | |
Info | BIOS Consortium, Bonder MJ, Luijk R, Zhernakova DV, Moed M, Deelen P, Vermaat M, van Iterson M, van Dijk F, van Galen M, Bot J, Jhamai PM, Verbiest M, Suchiman HED, Verkerk M, van der Breggen R, van Rooij J, Lakenberg N, Arindrarto W, Kielbasa SM, van 't Hof P, Nooren I, Beekman M, Deelen J, van Heemst D, Zhernakova A, Tigchelaar EF, Swertz MA, Hofman BA, Uitterlinden AG, Pool R, van Dongen J, Hottenga JJ, Stehouwer CDA, van der Kallen CJH, Schalkwijk CG, van den Berg LH, van Zwet EW, Mei H, Slagboom PE, Wijmenga C, Veldink JH, van Greevenbroek MMJ, van Duijn CM, Boomsma DI, Isaacs A, Jansen R, van Meurs J, 't Hoen PAC, Franke L |
Keywords | DNA methylation, Epimutation, Familial melanoma, Loss of imprinting |
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