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Sex differences in oncogenic mutational processes

Author(s)
Li, Constance H.; Prokopec, Stephenie D.; Sun, Ren X.; Yousif, Fouad; Schmitz, Nathaniel; Boutros, Paul C.; Kellis, Manolis; PCAWG Consortium; ... Show more Show less
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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.
Date issued
2020-08
URI
https://hdl.handle.net/1721.1/129457
Department
Massachusetts Institute of Technology. Computer Science and Artificial Intelligence Laboratory; Massachusetts Institute of Technology. Department of Electrical Engineering and Computer Science
Journal
Nature Communications
Publisher
Springer Science and Business Media LLC
Citation
Li, Constance H. et al. "Sex differences in oncogenic mutational processes." Nature Communications 11, 1 (August 2020): 4330 © 2020 The Author(s)
Version: Final published version
ISSN
2041-1723

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