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http://hdl.handle.net/2445/171747
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DC Field | Value | Language |
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dc.contributor.author | Dámaso, Estela | - |
dc.contributor.author | González Acosta, María Isabel | - |
dc.contributor.author | Vargas Parra, Gardenía María | - |
dc.contributor.author | Navarro, Matilde | - |
dc.contributor.author | Balmaña, Judith | - |
dc.contributor.author | Ramon y Cajal, Teresa | - |
dc.contributor.author | Tuset, Noemí | - |
dc.contributor.author | Thompson, Bryony A. | - |
dc.contributor.author | Marín, Fátima | - |
dc.contributor.author | Fernández, Anna | - |
dc.contributor.author | Gomez, Carolina | - |
dc.contributor.author | Velasco, Àngela | - |
dc.contributor.author | Solanes, Ares | - |
dc.contributor.author | Iglesias Casals, Sílvia | - |
dc.contributor.author | Urgel, Gisela | - |
dc.contributor.author | López, Consol | - |
dc.contributor.author | Valle, Jesús del | - |
dc.contributor.author | Campos, Olga | - |
dc.contributor.author | Santacana, Maria | - |
dc.contributor.author | Matias-Guiu, Xavier | - |
dc.contributor.author | Lázaro García, Conxi | - |
dc.contributor.author | Valle, Laura | - |
dc.contributor.author | Brunet, Joan | - |
dc.contributor.author | Pineda Riu, Marta | - |
dc.contributor.author | Capellá, G. (Gabriel) | - |
dc.date.accessioned | 2020-11-04T16:20:59Z | - |
dc.date.available | 2020-11-04T16:20:59Z | - |
dc.date.issued | 2020-07-01 | - |
dc.identifier.uri | http://hdl.handle.net/2445/171747 | - |
dc.description.abstract | The causal mechanism for cancer predisposition in Lynch-like syndrome (LLS) remains unknown. Our aim was to elucidate the constitutional basis of mismatch repair (MMR) deficiency in LLS patients throughout a comprehensive (epi)genetic analysis. One hundred and fifteen LLS patients harboring MMR-deficient tumors and no germline MMR mutations were included. Mutational analysis of 26 colorectal cancer (CRC)-associated genes was performed. Pathogenicity of MMR variants was assessed by splicing and multifactorial likelihood analyses. Genome-wide methylome analysis was performed by the Infinium Human Methylation 450K Bead Chip. The multigene panel analysis revealed the presence of two MMR gene truncating mutations not previously found. Of a total of 15 additional MMR variants identified, five -present in 6 unrelated individuals- were reclassified as pathogenic. In addition, 13 predicted deleterious variants in other CRC-predisposing genes were found in 12 probands. Methylome analysis detected one constitutionalMLH1epimutation, but no additional differentially methylated regions were identified in LLS compared to LS patients or cancer-free individuals. In conclusion, the use of an ad-hoc designed gene panel combined with pathogenicity assessment of variants allowed the identification of deleterious MMR mutations as well as new LLS candidate causal genes. Constitutional epimutations in non-LS-associated genes are not responsible for LLS. | - |
dc.format.extent | 25 p. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | - |
dc.publisher | MDPI | - |
dc.relation.isformatof | Reproducció del document publicat a: https://doi.org/10.3390/cancers12071799 | - |
dc.relation.ispartof | Cancers, 2020, vol. 12, num. 7 | - |
dc.relation.uri | https://doi.org/10.3390/cancers12071799 | - |
dc.rights | cc by (c) Dámaso et al., 2020 | - |
dc.rights.uri | http://creativecommons.org/licenses/by/3.0/es/ | - |
dc.source | Articles publicats en revistes (Ciències Clíniques) | - |
dc.subject.classification | Càncer colorectal | - |
dc.subject.classification | Genètica | - |
dc.subject.other | Colorectal cancer | - |
dc.subject.other | Genetics | - |
dc.title | Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals | - |
dc.type | info:eu-repo/semantics/article | - |
dc.type | info:eu-repo/semantics/publishedVersion | - |
dc.identifier.idgrec | 707054 | - |
dc.date.updated | 2020-11-03T17:09:18Z | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
dc.identifier.pmid | 32635641 | - |
Appears in Collections: | Articles publicats en revistes (Ciències Clíniques) Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
Files in This Item:
File | Description | Size | Format | |
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DamasoE.pdf | 1.83 MB | Adobe PDF | View/Open |
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