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Åke Borg

Åke Borg

Principal investigator

Åke Borg

Sex differences in oncogenic mutational processes


  • 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

Summary, in English

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.


  • LUCC: Lund University Cancer Centre
  • Familial Breast Cancer
  • Breastcancer-genetics
  • Division of Translational Cancer Research
  • Molecular Cell Biology
  • Breast/lungcancer

Publishing year





Nature Communications



Document type

Journal article


Nature Publishing Group


  • Medical Genetics
  • Cancer and Oncology



Research group

  • Familial Breast Cancer


  • ISSN: 2041-1723