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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.
SUBMITTER: Salgado C
PROVIDER: S-EPMC7060565 | biostudies-literature | 2020 Mar
REPOSITORIES: biostudies-literature
Salgado Catarina C Gruis Nelleke N Heijmans Bastiaan T BT Oosting Jan J van Doorn Remco R
Clinical epigenetics 20200306 1
<h4>Background</h4>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.<h4>Results</h4>All melanoma susceptibility genes showed the absence of epimutations in familial melanoma patients, and no loss of imprinting was detected. Unbiased genome-wide DNA ...[more]