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Sex differences in oncogenic mutational processes

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Prokopec, Stephenie D.  ORCID logo
Sun, Ren X. 
Yousif, Fouad 
Schmitz, Nathaniel 
Al-Shahrour, Fatima 


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.


Funder: Canadian Network for Research and Innovation in Machining Technology, Natural Sciences and Engineering Research Council of Canada (NSERC Canadian Network for Research and Innovation in Machining Technology); doi:

Funder: Genome Canada (Génome Canada); doi:

Funder: Canada Foundation for Innovation (Fondation canadienne pour l'innovation); doi:

Funder: Terry Fox Research Institute (Institut de Recherche Terry Fox); doi:


Article, /631/67/68, /631/114/2785, /692/4028/67/69, /692/4028/67/395, /38/23, /119, /45, article

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Nature Communications

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Nature Publishing Group UK
Gouvernement du Canada | Instituts de Recherche en Santé du Canada | CIHR Skin Research Training Centre (Skin Research Training Centre) (SVB-145586)
U.S. Department of Health & Human Services | NIH | National Cancer Institute (NCI) (P30CA016042)