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.
Original language | English |
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Article number | 43 |
Number of pages | 7 |
Journal | Clinical epigenetics |
Volume | 12 |
Issue number | 1 |
DOIs | |
Publication status | Published - 6 Mar 2020 |
Externally published | Yes |
Keywords
- CDKN2A
- DNA methylation
- Epimutation
- Familial melanoma
- GENE
- GERMLINE EPIMUTATION
- INHERITANCE
- Loss of imprinting
- MLH1
- MSH2
- MUTATIONS
- VARIANT