Sex differences in oncogenic mutational processes

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dc.contributor.authorLi, Constance H.
dc.contributor.authorStobbe, Miranda D.
dc.contributor.authorDéu Pons, Jordi
dc.contributor.authorGonzalez-Perez, Abel
dc.contributor.authorMuiños, Ferran
dc.contributor.authorMularoni, Loris
dc.contributor.authorPich Roselló, Oriol, 1992-
dc.contributor.authorRubio Pérez, Carlota, 1990-
dc.contributor.authorSabarinathan, Radhakrishnan
dc.contributor.authorTamborero Noguera, David
dc.contributor.authorHeredia Genestar, José María, 1985-
dc.contributor.authorMarquès i Bonet, Tomàs, 1975-
dc.contributor.authorNavarro i Cuartiellas, Arcadi, 1969-
dc.contributor.authorBosio, Mattia
dc.contributor.authorDemidov, German, 1990-
dc.contributor.authorDrechsel, Oliver
dc.contributor.authorEscaramís, Geòrgia
dc.contributor.authorEstivill, Xavier, 1955-
dc.contributor.authorHolik, Aliaksei Z.
dc.contributor.authorMuyas Remolar, Francesc, 1992-
dc.contributor.authorOssowski, Stephan
dc.contributor.authorRabionet Janssen, Raquel
dc.contributor.authorSušak, Hana, 1985-
dc.contributor.authorPCAWG Consortium
dc.date.accessioned2022-06-07T09:05:58Z
dc.date.available2022-06-07T09:05:58Z
dc.date.issued2020
dc.description.abstractSex differences have been observed in multiple facets of cancer epidemiology, treatment and biology, and in most cancers outside the sex organs. Efforts to link these clinical differences to specific molecular features have focused on somatic mutations within the coding regions of the genome. Here we report a pan-cancer analysis of sex differences in whole genomes of 1983 tumours of 28 subtypes as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium. We both confirm the results of exome studies, and also uncover previously undescribed sex differences. These include sex-biases in coding and non-coding cancer drivers, mutation prevalence and strikingly, in mutational signatures related to underlying mutational processes. These results underline the pervasiveness of molecular sex differences and strengthen the call for increased consideration of sex in molecular cancer research.
dc.description.sponsorshipThis study was conducted with the support of the Ontario Institute for Cancer Research to P.C.B. through funding provided by the Government of Ontario. This work was supported by the Discovery Frontiers: Advancing Big Data Science in Genomics Research program, which is jointly funded by the Natural Sciences and Engineering Research Council (NSERC) of Canada, the Canadian Institutes of Health Research (CIHR), Genome Canada and the Canada Foundation for Innovation (CFI). P.C.B. was supported by a Terry Fox Research Institute New Investigator Award and a CIHR New Investigator Award. This work was supported by an NSERC Discovery grant and by Canadian Institutes of Health Research, grant #SVB-145586, to P.C.B. This work was supported by the NIH/NCI under award number P30CA016042 and an operating grant from the National Cancer Institute Early Detection Research Network (1U01CA214194-01)
dc.format.mimetypeapplication/pdf
dc.identifier.citationLi CH, Prokopec SD, Sun RX, Yousif F, Schmitz N; PCAWG Tumour Subtypes and Clinical Translation et al. Sex differences in oncogenic mutational processes. Nat Commun. 2020 Aug 28;11(1):4330. DOI:10.1038/s41467-020-17359-2
dc.identifier.doihttp://dx.doi.org/10.1038/s41467-020-17359-2
dc.identifier.issn2041-1723
dc.identifier.urihttp://hdl.handle.net/10230/53397
dc.language.isoeng
dc.publisherNature Research
dc.rights© Constance H. Li et al. 2020. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made
dc.rights.accessRightsinfo:eu-repo/semantics/openAccess
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.subject.otherCàncer -- Epidemiologia
dc.subject.otherCàncer -- Tractament
dc.subject.otherGenòmica
dc.subject.otherDiferències entre sexes
dc.titleSex differences in oncogenic mutational processes
dc.typeinfo:eu-repo/semantics/article
dc.type.versioninfo:eu-repo/semantics/publishedVersion

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