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DC Field | Value | Language |
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dc.contributor.author | Georgeson, Peter | - |
dc.contributor.author | Harrison, Tabitha A. | - |
dc.contributor.author | Pope, Bernard J. | - |
dc.contributor.author | Zaidi, Syed H. | - |
dc.contributor.author | Qu, Conghui | - |
dc.contributor.author | Steinfelder, Robert S. | - |
dc.contributor.author | Lin, Yi | - |
dc.contributor.author | Joo, Jihoon E. | - |
dc.contributor.author | Mahmood, Khalid | - |
dc.contributor.author | Clendenning, Mark | - |
dc.contributor.author | Walker, Romy | - |
dc.contributor.author | Amitay, Efrat L. | - |
dc.contributor.author | Berndt, Sonja I. | - |
dc.contributor.author | Brenner, Hermann | - |
dc.contributor.author | Campbell, Peter T. | - |
dc.contributor.author | Cao, Yin | - |
dc.contributor.author | Chan, Andrew T. | - |
dc.contributor.author | Chang-Claude, Jenny | - |
dc.contributor.author | Doheny, Kimberly F. | - |
dc.contributor.author | Drew, David A. | - |
dc.contributor.author | Figueiredo, Jane C. | - |
dc.contributor.author | French, Amy J. | - |
dc.contributor.author | Gallinger, Steven | - |
dc.contributor.author | Giannakis, Marios | - |
dc.contributor.author | Giles, Graham G. | - |
dc.contributor.author | Gsur, Andrea | - |
dc.contributor.author | Gunter, Marc J. | - |
dc.contributor.author | Hoffmeister, Michael | - |
dc.contributor.author | Hsu, Li | - |
dc.contributor.author | Huang, Wen-Yi | - |
dc.contributor.author | Limburg, Paul | - |
dc.contributor.author | Manson, Joann E. | - |
dc.contributor.author | Moreno Aguado, Víctor | - |
dc.contributor.author | Nassir, Rami | - |
dc.contributor.author | Nowak, Jonathan A. | - |
dc.contributor.author | Obón Santacana, Mireia | - |
dc.contributor.author | Ogino, Shuji | - |
dc.contributor.author | Phipps, Amanda I. | - |
dc.contributor.author | Potter, John D. | - |
dc.contributor.author | Schoen, Robert E. | - |
dc.contributor.author | Sun, Wei | - |
dc.contributor.author | Toland, Amanda E. | - |
dc.contributor.author | Trinh, Quang M. | - |
dc.contributor.author | Ugai, Tomotaka | - |
dc.contributor.author | Macrae, Finlay | - |
dc.contributor.author | Rosty, Christophe | - |
dc.contributor.author | Hudson, Thomas J. | - |
dc.contributor.author | Jenkins, Mark A. | - |
dc.contributor.author | Thibodeau, Stephen N. | - |
dc.contributor.author | Winship, Ingrid M. | - |
dc.contributor.author | Peters, Ulrike | - |
dc.contributor.author | Buchanan, Daniel D. | - |
dc.date.accessioned | 2022-06-27T10:24:30Z | - |
dc.date.available | 2022-06-27T10:24:30Z | - |
dc.date.issued | 2022-06-06 | - |
dc.identifier.issn | 2041-1723 | - |
dc.identifier.uri | http://hdl.handle.net/2445/187055 | - |
dc.description.abstract | Carriers of germline biallelic pathogenic variants in the MUTYH gene have a high risk of colorectal cancer. We test 5649 colorectal cancers to evaluate the discriminatory potential of a tumor mutational signature specific to MUTYH for identifying biallelic carriers and classifying variants of uncertain clinical significance (VUS). Using a tumor and matched germline targeted multi-gene panel approach, our classifier identifies all biallelic MUTYH carriers and all known non-carriers in an independent test set of 3019 colorectal cancers (accuracy = 100% (95% confidence interval 99.87-100%)). All monoallelic MUTYH carriers are classified with the non-MUTYH carriers. The classifier provides evidence for a pathogenic classification for two VUS and a benign classification for five VUS. Somatic hotspot mutations KRAS p.G12C and PIK3CA p.Q546K are associated with colorectal cancers from biallelic MUTYH carriers compared with non-carriers (p = 2 x 10(-23) and p = 6 x 10(-11), respectively). Here, we demonstrate the potential application of mutational signatures to tumor sequencing workflows to improve the identification of biallelic MUTYH carriers. Germline biallelic pathogenic MUTYH variants predispose patients to colorectal cancer (CRC); however, approaches to identify MUTYH variant carriers are lacking. Here, the authors evaluated mutational signatures that could distinguish MUTYH carriers in large CRC cohorts, and found MUTYH-associated somatic mutations. | - |
dc.format.extent | 12 p. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | - |
dc.publisher | Springer Science | - |
dc.relation.isformatof | Reproducció del document publicat a: https://doi.org/10.1038/s41467-022-30916-1 | - |
dc.relation.ispartof | Nature Communications, 2022, vol. 13, num. 1 | - |
dc.relation.uri | https://doi.org/10.1038/s41467-022-30916-1 | - |
dc.rights | cc by (c) Georgeson, Peter et al, 2022 | - |
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 | Genètica | - |
dc.subject.other | Colorectal cancer | - |
dc.subject.other | Genetics | - |
dc.title | Identifying colorectal cancer caused by biallelic MUTYH pathogenic variants using tumor mutational signatures | - |
dc.type | info:eu-repo/semantics/article | - |
dc.type | info:eu-repo/semantics/publishedVersion | - |
dc.date.updated | 2022-06-27T07:57:53Z | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
dc.identifier.pmid | 35668106 | - |
Appears in Collections: | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
Files in This Item:
File | Description | Size | Format | |
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s41467-022-30916-1.pdf | 12.2 MB | Adobe PDF | View/Open |
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