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


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

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

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]

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