TY - JOUR
T1 - Genome-wide analysis of constitutional DNA methylation in familial melanoma
AU - r
AU - Salgado, Catarina
AU - Gruis, Nelleke
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 - Pool, René
AU - Van Dongen, Jenny
AU - Hottenga, Jouke J.
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 - Boomsma, Dorret I.
AU - Isaacs, Aaron
AU - Jansen, Rick
AU - Van Meurs, Joyce
AU - Thoen, Peter A.C.
AU - Franke, Lude
AU - Heijmans, Bastiaan T.
AU - Oosting, Jan
AU - Van Doorn, Remco
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 - DNA methylation
KW - Epimutation
KW - Familial melanoma
KW - Loss of imprinting
UR - https://www.scopus.com/pages/publications/85081258657
U2 - 10.1186/s13148-020-00831-7
DO - 10.1186/s13148-020-00831-7
M3 - Article
C2 - 32143689
SN - 1868-7075
VL - 12
JO - Clinical epigenetics
JF - Clinical epigenetics
IS - 1
M1 - 43
ER -
SDG 3 Good Health and Well-being