Welcome to the UPF Digital Repository

Comprehensive characterization of cancer driver genes and mutations

Show simple item record

dc.contributor.author Bailey, Matthew H.
dc.contributor.author López Bigas, Núria
dc.contributor.author Ding, Li
dc.date.accessioned 2021-01-27T06:50:09Z
dc.date.available 2021-01-27T06:50:09Z
dc.date.issued 2018
dc.identifier.citation Bailey MH, Tokheim C, Porta-Pardo E, Sengupta S, Bertrand D, Weerasinghe A et al. MC3 Working Group. Comprehensive characterization of cancer driver genes and mutations. Cell. 2018; 173(2):371-85.e18. DOI: 10.1016/j.cell.2018.02.060
dc.identifier.issn 0092-8674
dc.identifier.uri http://hdl.handle.net/10230/46279
dc.description.abstract Identifying molecular cancer drivers is critical for precision oncology. Multiple advanced algorithms to identify drivers now exist, but systematic attempts to combine and optimize them on large datasets are few. We report a PanCancer and PanSoftware analysis spanning 9,423 tumor exomes (comprising all 33 of The Cancer Genome Atlas projects) and using 26 computational tools to catalog driver genes and mutations. We identify 299 driver genes with implications regarding their anatomical sites and cancer/cell types. Sequence- and structure-based analyses identified >3,400 putative missense driver mutations supported by multiple lines of evidence. Experimental validation confirmed 60%-85% of predicted mutations as likely drivers. We found that >300 MSI tumors are associated with high PD-1/PD-L1, and 57% of tumors analyzed harbor putative clinically actionable events. Our study represents the most comprehensive discovery of cancer genes and mutations to date and will serve as a blueprint for future biological and clinical endeavors.
dc.format.mimetype application/pdf
dc.language.iso eng
dc.publisher Elsevier
dc.relation.ispartof Cell. 2018; 173(2):371-85.e18
dc.rights This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
dc.rights.uri http://creativecommons.org/licenses/by-nc-nd/4.0/
dc.title Comprehensive characterization of cancer driver genes and mutations
dc.type info:eu-repo/semantics/article
dc.identifier.doi http://dx.doi.org/10.1016/j.cell.2018.02.060
dc.subject.keyword Oncology
dc.subject.keyword Driver gene discovery
dc.subject.keyword Structure analysis
dc.subject.keyword Mutations of clinical relevance
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/publishedVersion


This item appears in the following Collection(s)

Show simple item record

Search DSpace

Advanced Search


My Account


In collaboration with Compliant to Partaking