학술논문
Genome-wide analysis of constitutional DNA methylation in familial melanoma.
Document Type
Article
Author
Salgado, Catarina; Gruis, Nelleke; BIOS Consortium; Bonder, Marc Jan; Luijk, René; Zhernakova, Dasha V.; Moed, Matthijs; Deelen, Patrick; Vermaat, Martijn; van Iterson, Maarten; van Dijk, Freerk; van Galen, Michiel; Bot, Jan; Jhamai, P. Mila; Verbiest, Michael; Suchiman, H. Eka D.; Verkerk, Marijn; van der Breggen, Ruud; van Rooij, Jeroen; Lakenberg, Nico
Source
Subject
*DNA methylation
*DNA analysis
*MELANOMA
*METHYLATION
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Language
ISSN
1868-7075
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. [ABSTRACT FROM AUTHOR]