Genome-wide analysis of constitutional DNA methylation in familial melanoma

Catarina Salgado; Nelleke Gruis; Bastiaan T Heijmans; Jan Oosting; Remco van Doorn; BIOS Consortium; Renée Pool; Jenny van Dongen; Jouke Jan  Hottenga; Dorret Boomsma

doi:10.1186/s13148-020-00831-7

Genome-wide analysis of constitutional DNA methylation in familial melanoma

Catarina Salgado
, Nelleke Gruis
, Bastiaan T Heijmans
, Jan Oosting
, Remco van Doorn
, BIOS Consortium
, Renée Pool
, Jenny van Dongen
, Jouke Jan Hottenga
, Dorret Boomsma

Research output: Contribution to Journal › Article › Academic › peer-review

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
Article number	43
Pages (from-to)	1-7
Number of pages	7
Journal	Clinical epigenetics
Volume	12
Issue number	1
DOIs	https://doi.org/10.1186/s13148-020-00831-7
Publication status	Published - 6 Mar 2020

Funding

Funders	Funder number
Horizon 2020 Framework Programme	641458
???publication-publication-funding-organisation-not-added???	184.021.007

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

Adult
Aged
CpG Islands
DNA Methylation
Genome, Human
Humans
Melanoma/genetics
Middle Aged
Promoter Regions, Genetic
Skin Neoplasms/genetics

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10.1186/s13148-020-00831-7

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Cite this

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title = "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.",

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doi = "10.1186/s13148-020-00831-7",

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T1 - Genome-wide analysis of constitutional DNA methylation in familial melanoma

AU - Salgado, Catarina

AU - Gruis, Nelleke

AU - Heijmans, Bastiaan T

AU - Oosting, Jan

AU - van Doorn, Remco

AU - BIOS Consortium

AU - Pool, Renée

AU - van Dongen, Jenny

AU - Hottenga, Jouke Jan

AU - Boomsma, Dorret

PY - 2020/3/6

Y1 - 2020/3/6

N2 - 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.

AB - 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.

KW - Adult

KW - Aged

KW - CpG Islands

KW - DNA Methylation

KW - Genome, Human

KW - Humans

KW - Melanoma/genetics

KW - Middle Aged

KW - Promoter Regions, Genetic

KW - Skin Neoplasms/genetics

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DO - 10.1186/s13148-020-00831-7

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Genome-wide analysis of constitutional DNA methylation in familial melanoma

Abstract

Funding

UN SDGs

Keywords

Access to Document

Persistent URL (handle)

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