Genome-wide analysis of constitutional DNA methylation in familial melanoma

BIOS consortium; r

doi:https://doi.org/10.1186/s13148-020-00831-7

Genome-wide analysis of constitutional DNA methylation in familial melanoma

BIOS consortium, r

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

3 Citations (Scopus)

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

Keywords

Adult
Aged
CpG Islands
DNA Methylation
Epimutation
Familial melanoma
Genome, Human
Humans
Loss of imprinting
Melanoma/genetics
Middle Aged
Promoter Regions, Genetic
Skin Neoplasms/genetics

UN SDGs

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

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https://doi.org/10.1186/s13148-020-00831-7

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@article{e23d13af01474244b2830b26a4723d27,

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.",

keywords = "Adult, Aged, CpG Islands, DNA Methylation, Epimutation, Familial melanoma, Genome, Human, Humans, Loss of imprinting, Melanoma/genetics, Middle Aged, Promoter Regions, Genetic, Skin Neoplasms/genetics",

author = "Catarina Salgado and Nelleke Gruis and Heijmans, {Bastiaan T} and Jan Oosting and {van Doorn}, Remco and {BIOS consortium} and Ren{\'e}e Pool and {van Dongen}, Jenny and Hottenga, {Jouke Jan} and Dorret Boomsma and r and Bonder, {Marc Jan} and Ren{\'e} Luijk and Zhernakova, {Dasha V.} and Matthijs Moed and Patrick Deelen and Martijn Vermaat and {Van Iterson}, Maarten and {Van Dijk}, Freerk and {Van Galen}, Michiel and Jan Bot and Jhamai, {P. Mila} and Michael Verbiest and Suchiman, {H. Eka D.} and Marijn Verkerk and {Van Der Breggen}, Ruud and {Van Rooij}, Jeroen and Nico Lakenberg and Wibowo Arindrarto and Kielbasa, {Szymon M.} and {Van 'T Hof}, Peter and Irene Nooren and Marian Beekman and Joris Deelen and {Van Heemst}, Diana and Alexandra Zhernakova and Tigchelaar, {Ettje F.} and Swertz, {Morris A.} and Hofman, {Bert A.} and Uitterlinden, {Andr{\'e} G.} and Stehouwer, {Coen D.A.} and {Van Der Kallen}, {Carla J.H.} and Schalkwijk, {Casper G.} and {Van Den Berg}, {Leonard H.} and {Van Zwet}, {Erik W.} and Hailiang Mei and Slagboom, {P. Eline} and Cisca Wijmenga and Veldink, {Jan H.} and {Van Greevenbroek}, {Marleen M.J.} and {Van Duijn}, {Cornelia M.} and Aaron Isaacs and Rick Jansen and {Van Meurs}, Joyce and Thoen, {Peter A.C.}",

year = "2020",

month = mar,

day = "6",

doi = "https://doi.org/10.1186/s13148-020-00831-7",

language = "English",

volume = "12",

pages = "1--7",

journal = "Clinical epigenetics",

issn = "1868-7083",

publisher = "Springer Verlag",

number = "1",

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TY - JOUR

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

AU - r

AU - Bonder, Marc Jan

AU - Luijk, René

AU - Zhernakova, Dasha V.

AU - Moed, Matthijs

AU - Deelen, Patrick

AU - Vermaat, Martijn

AU - Van Iterson, Maarten

AU - Van Dijk, Freerk

AU - Van Galen, Michiel

AU - Bot, Jan

AU - Jhamai, P. Mila

AU - Verbiest, Michael

AU - Suchiman, H. Eka D.

AU - Verkerk, Marijn

AU - Van Der Breggen, Ruud

AU - Van Rooij, Jeroen

AU - Lakenberg, Nico

AU - Arindrarto, Wibowo

AU - Kielbasa, Szymon M.

AU - Van 'T Hof, Peter

AU - Nooren, Irene

AU - Beekman, Marian

AU - Deelen, Joris

AU - Van Heemst, Diana

AU - Zhernakova, Alexandra

AU - Tigchelaar, Ettje F.

AU - Swertz, Morris A.

AU - Hofman, Bert A.

AU - Uitterlinden, André G.

AU - Stehouwer, Coen D.A.

AU - Van Der Kallen, Carla J.H.

AU - Schalkwijk, Casper G.

AU - Van Den Berg, Leonard H.

AU - Van Zwet, Erik W.

AU - Mei, Hailiang

AU - Slagboom, P. Eline

AU - Wijmenga, Cisca

AU - Veldink, Jan H.

AU - Van Greevenbroek, Marleen M.J.

AU - Van Duijn, Cornelia M.

AU - Isaacs, Aaron

AU - Jansen, Rick

AU - Van Meurs, Joyce

AU - Thoen, Peter A.C.

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 - Epimutation

KW - Familial melanoma

KW - Genome, Human

KW - Humans

KW - Loss of imprinting

KW - Melanoma/genetics

KW - Middle Aged

KW - Promoter Regions, Genetic

KW - Skin Neoplasms/genetics

UR - http://www.scopus.com/inward/record.url?scp=85081258657&partnerID=8YFLogxK

U2 - https://doi.org/10.1186/s13148-020-00831-7

DO - https://doi.org/10.1186/s13148-020-00831-7

M3 - Article

C2 - 32143689

SN - 1868-7083

VL - 12

SP - 1

EP - 7

JO - Clinical epigenetics

JF - Clinical epigenetics

IS - 1

M1 - 43

ER -

Genome-wide analysis of constitutional DNA methylation in familial melanoma

Abstract

Keywords

UN SDGs

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