Sex differences in oncogenic mutational processes

Research output: Contribution to journalArticle


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.


  • Constance H. Li
  • Stephenie D. Prokopec
  • Ren X. Sun
  • Fouad Yousif
  • Nathaniel Schmitz
  • Fatima Al-Shahrour
  • Gurnit Atwal
  • Peter J. Bailey
  • Andrew V. Biankin
  • Paul C. Boutros
  • Peter J. Campbell
  • David K. Chang
  • Susanna L. Cooke
  • Vikram Deshpande
  • Bishoy M. Faltas
  • William C. Faquin
  • Levi Garraway
  • Gad Getz
  • Sean M. Grimmond
  • Syed Haider
  • Katherine A. Hoadley
  • Wei Jiao
  • Vera B. Kaiser
  • Rosa Karlić
  • Mamoru Kato
  • Kirsten Kübler
  • Alexander J. Lazar
  • Derek W. Wright
  • Ake Borg
  • Ian J. Davis
  • Anna Ehinger
  • Dominik Glodzik
  • Dorthe Grabau
  • Mi Ni Huang
  • Peter A. Johansson
  • Erik Larsson
  • Chang Li
  • Haiyan Irene Li
  • Jun Li
  • Peter Möller
  • Markus Ringnér
  • Lei Song
  • Johan Staaf
  • Jian Wang
  • Qi Wang
  • Yang Yang
  • Fan Zhang
  • Jing Zhang
  • Yan Zhang
  • PCAWG Tumour Subtypes and Clinical Translation
  • PCAWG Consortium
External organisations
  • Ontario Institute for Cancer Research
  • University of Toronto
  • University of California, Los Angeles
  • Spanish National Cancer Research Center (CNIO)
  • University of New South Wales
  • Wellcome Trust Sanger Institute
  • University of Cambridge
  • Massachusetts General Hospital
  • Weill Cornell Medical College
  • Dana-Farber Cancer Institute
  • Broad Institute
  • Harvard Medical School
  • University of Melbourne
  • University of North Carolina
  • University of Edinburgh
  • University of Zagreb
  • University of Texas
  • Skåne University Hospital
  • Duke–NUS Medical School
  • QIMR Berghofer Medical Research Institute
  • University of Gothenburg
  • China National Genebank
  • British Columbia Cancer Agency
  • University Hospital of Ulm
  • National Cancer Institute, USA
  • German Cancer Research Centre
  • Peking University
  • Yale University
  • Ohio State University
  • National Cancer Center Research Institute, Japan
  • University of Glasgow
  • Glasgow Royal Infirmary
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Medical Genetics
  • Cancer and Oncology
Original languageEnglish
Article number4330
Number of pages24
JournalNature Communications
Publication statusPublished - 2020 Aug 28
Publication categoryResearch