Sex differences in oncogenic mutational processes

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  • dc.contributor.author Li, Constance H.
  • dc.contributor.author Stobbe, Miranda D.
  • dc.contributor.author Déu Pons, Jordi
  • dc.contributor.author Gonzalez-Perez, Abel
  • dc.contributor.author Muiños, Ferran
  • dc.contributor.author Mularoni, Loris
  • dc.contributor.author Pich Roselló, Oriol, 1992-
  • dc.contributor.author Rubio Pérez, Carlota, 1990-
  • dc.contributor.author Sabarinathan, Radhakrishnan
  • dc.contributor.author Tamborero Noguera, David
  • dc.contributor.author Heredia Genestar, José María, 1985-
  • dc.contributor.author Marquès i Bonet, Tomàs, 1975-
  • dc.contributor.author Navarro i Cuartiellas, Arcadi, 1969-
  • dc.contributor.author Bosio, Mattia
  • dc.contributor.author Demidov, German, 1990-
  • dc.contributor.author Drechsel, Oliver
  • dc.contributor.author Escaramís, Geòrgia
  • dc.contributor.author Estivill, Xavier, 1955-
  • dc.contributor.author Holik, Aliaksei Z.
  • dc.contributor.author Muyas Remolar, Francesc, 1992-
  • dc.contributor.author Ossowski, Stephan
  • dc.contributor.author Rabionet, Raquel
  • dc.contributor.author Sušak, Hana, 1985-
  • dc.contributor.author PCAWG Consortium
  • dc.date.accessioned 2022-06-07T09:05:58Z
  • dc.date.available 2022-06-07T09:05:58Z
  • dc.date.issued 2020
  • dc.description.abstract Sex 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.sponsorship This 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.mimetype application/pdf
  • dc.identifier.citation Li 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.doi http://dx.doi.org/10.1038/s41467-020-17359-2
  • dc.identifier.issn 2041-1723
  • dc.identifier.uri http://hdl.handle.net/10230/53397
  • dc.language.iso eng
  • dc.publisher Nature 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.accessRights info:eu-repo/semantics/openAccess
  • dc.rights.uri https://creativecommons.org/licenses/by/4.0/
  • dc.subject.other Càncer -- Epidemiologia
  • dc.subject.other Càncer -- Tractament
  • dc.subject.other Genòmica
  • dc.subject.other Diferències entre sexes
  • dc.title Sex differences in oncogenic mutational processes
  • dc.type info:eu-repo/semantics/article
  • dc.type.version info:eu-repo/semantics/publishedVersion