Sex differences in oncogenic mutational processes

Constance H. Li; Stephenie D. Prokopec; Ren X. Sun; Fouad Yousif; Nathaniel Schmitz; null PCAWG Tumour Subtypes and Clinical Translation; Paul C. Boutros; null PCAWG Consortium; Neil D. Merrett

doi:10.1038/s41467-020-17359-2

Sex differences in oncogenic mutational processes

Constance H. Li, Stephenie D. Prokopec, Ren X. Sun, Fouad Yousif, Nathaniel Schmitz, PCAWG Tumour Subtypes and Clinical Translation, Paul C. Boutros, PCAWG Consortium, Neil D. Merrett

Western Sydney University

Research output: Contribution to journal › Article › peer-review

66 Citations (Scopus)

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.

Original language	English
Article number	4330
Number of pages	24
Journal	Nature Communications
Volume	11
Issue number	1
DOIs	https://doi.org/10.1038/s41467-020-17359-2
Publication status	Published - 2020

Open Access - Access Right Statement

Â© The Author(s) 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. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/ licenses/by/4.0/

Keywords

cancer
oncogenes
sex differences

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1038/s41467-020-17359-2

Cite this

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title = "Sex differences in oncogenic mutational processes",

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.",

keywords = "cancer, oncogenes, sex differences",

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year = "2020",

doi = "10.1038/s41467-020-17359-2",

language = "English",

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AU - Li, Constance H.

AU - Prokopec, Stephenie D.

AU - Sun, Ren X.

AU - Yousif, Fouad

AU - Schmitz, Nathaniel

AU - PCAWG Tumour Subtypes and Clinical Translation, null

AU - Boutros, Paul C.

AU - PCAWG Consortium, null

AU - Merrett, Neil D.

PY - 2020

Y1 - 2020

N2 - 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.

AB - 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.

KW - cancer

KW - oncogenes

KW - sex differences

UR - http://hdl.handle.net/1959.7/uws:57776

U2 - 10.1038/s41467-020-17359-2

DO - 10.1038/s41467-020-17359-2

M3 - Article

SN - 2041-1723

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JO - Nature Communications

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IS - 1

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ER -

Sex differences in oncogenic mutational processes

Abstract

Open Access - Access Right Statement

Keywords

UN SDGs

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