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DC Field | Value | Language |
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dc.contributor.author | Terradas, Mariona | - |
dc.contributor.author | Capellá, G. (Gabriel) | - |
dc.contributor.author | Valle, Laura | - |
dc.date.accessioned | 2020-11-04T16:29:36Z | - |
dc.date.available | 2020-11-04T16:29:36Z | - |
dc.date.issued | 2020-06-01 | - |
dc.identifier.uri | http://hdl.handle.net/2445/171753 | - |
dc.description.abstract | In the past two decades, multiple studies have been undertaken to elucidate the genetic cause of the predisposition to mismatch repair (MMR)-proficient nonpolyposis colorectal cancer (CRC). Here, we present the proposed candidate genes according to their involvement in specific pathways considered relevant in hereditary CRC and/or colorectal carcinogenesis. To date, only pathogenic variants inRPS20may be convincedly linked to hereditary CRC. Nevertheless, accumulated evidence supports the involvement in the CRC predisposition of other genes, includingMRE11,BARD1,POT1,BUB1B,POLE2,BRF1,IL12RB1,PTPN12, or the epigenetic alteration ofPTPRJ. The contribution of the identified candidate genes to familial/early onset MMR-proficient nonpolyposis CRC, if any, is extremely small, suggesting that other factors, such as the accumulation of low risk CRC alleles, shared environmental exposures, and/or gene-environmental interactions, may explain the missing heritability in CRC. | - |
dc.format.extent | 19 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/jcm9061954 | - |
dc.relation.ispartof | Journal of Clinical Medicine, 2020, vol. 9, num. 6 | - |
dc.relation.uri | https://doi.org/10.3390/jcm9061954 | - |
dc.rights | cc by (c) Terradas et al., 2020 | - |
dc.rights.uri | http://creativecommons.org/licenses/by/3.0/es/ | - |
dc.source | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) | - |
dc.subject.classification | Càncer colorectal | - |
dc.subject.classification | Oncologia | - |
dc.subject.other | Colorectal cancer | - |
dc.subject.other | Oncology | - |
dc.title | Dominantly inherited hereditary nonpolyposis colorectal cancer not caused by MMR genes | - |
dc.type | info:eu-repo/semantics/article | - |
dc.type | info:eu-repo/semantics/publishedVersion | - |
dc.date.updated | 2020-11-03T17:11:47Z | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
dc.identifier.pmid | 32585810 | - |
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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TerradasM.pdf | 956.02 kB | Adobe PDF | View/Open |
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