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http://hdl.handle.net/2445/178839
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DC Field | Value | Language |
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dc.contributor.author | Unhjem Wiik, Mariann | - |
dc.contributor.author | Evans, Tiffany Jane | - |
dc.contributor.author | Belhadj, Sami | - |
dc.contributor.author | Bolton, Katherine A. | - |
dc.contributor.author | Dymerska, Dagmara | - |
dc.contributor.author | Jagmohan Changur, Shantie | - |
dc.contributor.author | Capellá, G. (Gabriel) | - |
dc.contributor.author | Kurzawski, Grzegorz | - |
dc.contributor.author | Wijnen, Juul T. | - |
dc.contributor.author | Valle, Laura | - |
dc.contributor.author | Vasen, Hans | - |
dc.contributor.author | Lubinski, Jan | - |
dc.contributor.author | Scott, Rodney J. | - |
dc.contributor.author | Talseth-Palmer, Bente A. | - |
dc.date.accessioned | 2021-07-05T11:07:07Z | - |
dc.date.available | 2021-07-05T11:07:07Z | - |
dc.date.issued | 2021-05-31 | - |
dc.identifier.uri | http://hdl.handle.net/2445/178839 | - |
dc.description.abstract | Individuals with Lynch syndrome (LS), have an increased risk of developing cancer. Common genetic variants of telomerase reverse transcriptase (TERT) have been associated with a wide range of cancers, including colorectal cancer (CRC) in LS. We combined genotype data from 1881 LS patients, carrying pathogenic variants in MLH1, MSH2 or MSH6, for rs2075786 (G>A, intronic variant), 1207 LS patients for rs2736108 (C>T, upstream variant) and 1201 LS patients for rs7705526 (C>A, intronic variant). The risk of cancer was estimated by heterozygous/homozygous odds ratio (OR) with mixed-effects logistic regression to adjust for gene/gender/country of sample origin considering family identity. The AA genotype of SNP rs2075786 is associated with 85% higher odds at developing cancer compared to GG genotype in MSH2 pathogenic variant carriers (p = 0.0160). Kaplan-Meier analysis also shows an association for rs2075786; the AA allele for MSH2 variant carriers confers risk for earlier diagnosis of LS cancer (log-rank p = 0.0011). We report a polymorphism in TERT to be a possible modifier of disease risk in MSH2 pathogenic variant carriers. The rs2075786 SNP in TERT is associated with a differential risk of developing cancer for MSH2 pathogenic variant carriers. Use of this information has the potential to personalise screening protocols for LS patients. | - |
dc.format.extent | 9 p. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | - |
dc.publisher | Springer Science and Business Media LLC | - |
dc.relation.isformatof | Reproducció del document publicat a: https://doi.org/10.1038/s41598-021-90501-2 | - |
dc.relation.ispartof | Scientific Reports, 2021, vol. 11, num. 11401 | - |
dc.relation.uri | https://doi.org/10.1038/s41598-021-90501-2 | - |
dc.rights | cc by (c) Unhjem Wiik, Mariann et al., 2021 | - |
dc.rights.uri | http://creativecommons.org/licenses/by/3.0/es/ | * |
dc.source | Articles publicats en revistes (Ciències Clíniques) | - |
dc.subject.classification | Cancer | - |
dc.subject.classification | Malalties hereditàries | - |
dc.subject.classification | Factors de risc en les malalties | - |
dc.subject.other | Càncer | - |
dc.subject.other | Genetic diseases | - |
dc.subject.other | Risk factors in diseases | - |
dc.title | A genetic variant in telomerase reverse transcriptase (TERT) modifies cancer risk in Lynch syndrome patients harbouring pathogenic MSH2 variants | - |
dc.type | info:eu-repo/semantics/article | - |
dc.identifier.idgrec | 713398 | - |
dc.date.updated | 2021-07-02T12:00:36Z | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
dc.identifier.pmid | 34059744 | - |
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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s41598-021-90501-2.pdf | 1.32 MB | Adobe PDF | View/Open |
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