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http://hdl.handle.net/2445/172157
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DC Field | Value | Language |
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dc.contributor.author | Dámaso, Estela | - |
dc.contributor.author | Castillejo, Adela | - |
dc.contributor.author | Arias, María del Mar | - |
dc.contributor.author | Canet Hermida, Júlia | - |
dc.contributor.author | Navarro, Matilde | - |
dc.contributor.author | Valle Domínguez, Jesús del | - |
dc.contributor.author | Campos, Olga | - |
dc.contributor.author | Fernández, Anna | - |
dc.contributor.author | Marín, Fátima | - |
dc.contributor.author | Turchetti, Daniela | - |
dc.contributor.author | García Díaz, Juan de Dios | - |
dc.contributor.author | Lázaro García, Conxi | - |
dc.contributor.author | Genuardi, Maurizio | - |
dc.contributor.author | Rueda, Daniel | - |
dc.contributor.author | Alonso, Ángel | - |
dc.contributor.author | Soto, Jose Luis | - |
dc.contributor.author | Hitchins, Megan | - |
dc.contributor.author | Pineda Riu, Marta | - |
dc.contributor.author | Capellá, G. (Gabriel) | - |
dc.date.accessioned | 2020-11-17T10:10:34Z | - |
dc.date.available | 2020-11-17T10:10:34Z | - |
dc.date.issued | 2018-10 | - |
dc.identifier.issn | 0007-0920 | - |
dc.identifier.uri | http://hdl.handle.net/2445/172157 | - |
dc.description.abstract | BACKGROUND: Constitutional MLH1 epimutations are characterised by monoallelic methylation of the MLH1 promoter throughout normal tissues, accompanied by allele-specific silencing. The mechanism underlying primary MLH1 epimutations is currently unknown. The aim of this study was to perform an in-depth characterisation of constitutional MLH1 epimutations targeting the aberrantly methylated region around MLH1 and other genomic loci. METHODS: Twelve MLH1 epimutation carriers, 61 Lynch syndrome patients, and 41 healthy controls, were analysed by Infinium 450 K array. Targeted molecular techniques were used to characterise the MLH1 epimutation carriers and their inheritance pattern. RESULTS: No nucleotide or structural variants were identified in-cis on the epimutated allele in 10 carriers, in which inter- generational methylation erasure was demonstrated in two, suggesting primary type of epimutation. CNVs outside the MLH1 locus were found in two cases. EPM2AIP1-MLH1 CpG island was identified as the sole differentially methylated region in MLH1 epimutation carriers compared to controls. CONCLUSION: Primary constitutional MLH1 epimutations arise as a focal epigenetic event at the EPM2AIP1-MLH1 CpG island in the absence of cis-acting genetic variants. Further molecular characterisation is needed to elucidate the mechanistic basis of MLH1 epimutations and their heritability/reversibility. | - |
dc.format.extent | 10 p. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | - |
dc.publisher | Cancer Research UK | - |
dc.relation.isformatof | Reproducció del document publicat a: https://doi.org/10.1038/s41416-018-0019-8 | - |
dc.relation.ispartof | British Journal of Cancer, 2018, vol. 119, num. 8, p. 978-987 | - |
dc.relation.uri | https://doi.org/10.1038/s41416-018-0019-8 | - |
dc.rights | cc by-nc-sa (c) Dámaso et al., 2018 | - |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-sa/3.0/es/ | - |
dc.source | Articles publicats en revistes (Ciències Clíniques) | - |
dc.subject.classification | Epigènesi | - |
dc.subject.classification | Mutació (Biologia) | - |
dc.subject.other | Epigenesis | - |
dc.subject.other | Mutation (Biology) | - |
dc.title | Primary constitutional MLH1 epimutations: a focal epigenetic event | - |
dc.type | info:eu-repo/semantics/article | - |
dc.type | info:eu-repo/semantics/publishedVersion | - |
dc.identifier.idgrec | 686072 | - |
dc.date.updated | 2020-11-17T10:10:34Z | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
dc.identifier.pmid | 30283143 | - |
Appears in Collections: | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) Articles publicats en revistes (Ciències Clíniques) |
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686072.pdf | 926.44 kB | Adobe PDF | View/Open |
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