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Sex differences in oncogenic mutational processes

Authors :
Li C. H.
Prokopec S. D.
Sun R. X.
Yousif F.
Schmitz N.
Al-Shahrour F.
Atwal G.
Bailey P. J.
Biankin A. V.
Boutros P. C.
Campbell P. J.
Chang D. K.
Cooke S. L.
Deshpande V.
Faltas B. M.
Faquin W. C.
Garraway L.
Getz G.
Grimmond S. M.
Haider S.
Hoadley K. A.
Jiao W.
Kaiser V. B.
Karlic R.
Kato M.
Kubler K.
Lazar A. J.
Louis D. N.
Margolin A.
Martin S.
Nahal-Bose H. K.
Nielsen G. P.
Nik-Zainal S.
Omberg L.
P'ng C.
Perry M. D.
Polak P.
Rheinbay E.
Rubin M. A.
Semple C. A.
Sgroi D. C.
Shibata T.
Siebert R.
Smith J.
Stein L. D.
Stobbe M. D.
Thai K.
Wright D. W.
Wu C. -L.
Yuan K.
Zhang J.
Aaltonen L. A.
Abascal F.
Abeshouse A.
Aburatani H.
Adams D. J.
Agrawal N.
Ahn K. S.
Ahn S. -M.
Aikata H.
Akbani R.
Akdemir K. C.
Al-Ahmadie H.
Al-Sedairy S. T.
Alawi M.
Albert M.
Aldape K.
Alexandrov L. B.
Ally A.
Alsop K.
Alvarez E. G.
Amary F.
Amin S. B.
Aminou B.
Ammerpohl O.
Anderson M. J.
Ang Y.
Antonello D.
Anur P.
Aparicio S.
Appelbaum E. L.
Arai Y.
Aretz A.
Arihiro K.
Ariizumi S. -I.
Armenia J.
Arnould L.
Asa S.
Assenov Y.
Aukema S.
Auman J. T.
Aure M. R.
Awadalla P.
Aymerich M.
Bader G. D.
Baez-Ortega A.
Bailey M. H.
Balasundaram M.
Balu S.
Bandopadhayay P.
Banks R. E.
Barbi S.
Barbour A. P.
Barenboim J.
Barnholtz-Sloan J.
Barr H.
Barrera E.
Bartlett J.
Bartolome J.
Bassi C.
Bathe O. F.
Baumhoer D.
Bavi P.
Baylin S. B.
Bazant W.
Beardsmore D.
Beck T. A.
Behjati S.
Behren A.
Niu B.
Bell C.
Beltran S.
Benz C.
Berchuck A.
Bergmann A. K.
Bergstrom E. N.
Berman B. P.
Berney D. M.
Bernhart S. H.
Beroukhim R.
Berrios M.
Bersani S.
Bertl J.
Betancourt M.
Bhandari V.
Bhosle S. G.
Bieg M.
Bigner D.
Binder H.
Birney E.
Birrer M.
Biswas N. K.
Bjerkehagen B.
Bodenheimer T.
Boice L.
Bonizzato G.
De Bono J. S.
Boot A.
Bootwalla M. S.
Borg A.
Borkhardt A.
Boroevich K. A.
Borozan I.
Borst C.
Bosenberg M.
Bosio M.
Boultwood J.
Bourque G.
Bova G. S.
Bowen D. T.
Bowlby R.
Bowtell D. D. L.
Boyault S.
Boyce R.
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Brewer D. S.
Brinkman A. B.
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Brock M.
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von Mering C.
Lauri Antti Aaltonen / Principal Investigator
Genome-Scale Biology (GSB) Research Program
Department of Medical and Clinical Genetics
Organismal and Evolutionary Biology Research Programme
Helsinki Institute for Information Technology
Institute of Biotechnology
Bioinformatics
Department of Computer Science
Faculty of Medicine
HUS Helsinki and Uusimaa Hospital District
University of St Andrews. Sir James Mackenzie Institute for Early Diagnosis
University of St Andrews. Cellular Medicine Division
University of St Andrews. Statistics
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School of Health Sciences (UI)
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University of Iceland
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Taniguchi, H
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Weichenhan, D
Weinberger, P
Weinstein, J
Weischenfeldt, J
Weisenberger, D
Welch, I
Wendl, M
Werner, J
Whalley, J
Wheeler, D
Whitaker, H
Wigle, D
Wilkerson, M
Williams, A
Wilmott, J
Wilson, G
Wilson, J
Wilson, R
Winterhoff, B
Wintersinger, J
Wiznerowicz, M
Wolf, S
Wong, B
Wong, T
Wong, W
Woo, Y
Wood, S
Wouters, B
Wright, A
Wright, M
Wu, D
Wu, G
Wu, J
Wu, K
Wu, Y
Wu, Z
Xi, L
Xia, T
Xiang, Q
Xiao, X
Xing, R
Xiong, H
Xu, Q
Xu, Y
Xue, H
Yachida, S
Yakneen, S
Yamaguchi, R
Yamaguchi, T
Yamamoto, M
Yamamoto, S
Yamaue, H
Yang, F
Yang, H
Yang, J
Yang, L
Yang, S
Yang, T
Yang, Y
Yao, X
Yaspo, M
Yates, L
Yau, C
Ye, C
Ye, K
Yellapantula, V
Yoon, C
Yoon, S
Yu, J
Yu, K
Yu, W
Yu, Y
Yuan, Y
Yuen, D
Yung, C
Zaikova, O
Zamora, J
Zapatka, M
Zenklusen, J
Zenz, T
Zeps, N
Zhang, C
Zhang, F
Zhang, H
Zhang, X
Zhang, Y
Zhang, Z
Zhao, Z
Zheng, L
Zheng, X
Zhou, W
Zhou, Y
Zhu, B
Zhu, H
Zhu, J
Zhu, S
Zou, L
Zou, X
Defazio, A
van As, N
van Deurzen, C
van de Vijver, M
Veer, L
von Mering, C
Natural Sciences and Engineering Research Council of Canada
Canadian Institutes of Health Research
Genome Canada
Canada Foundation for Innovation
National Institutes of Health (US)
National Cancer Institute (US)
Pathology
CCA - Cancer biology and immunology
Graduate School
Laboratory Genetic Metabolic Diseases
AGEM - Amsterdam Gastroenterology Endocrinology Metabolism
CCA -Cancer Center Amsterdam
Li, Constance H. [0000-0002-5487-7225]
Prokopec, Stephenie D. [0000-0001-7936-8577]
Boutros, Paul C. [0000-0003-0553-7520]
Apollo - University of Cambridge Repository
Tampere University
BioMediTech
TAYS Cancer Centre
Basic (bio-) Medical Sciences
Li, Constance H [0000-0002-5487-7225]
Prokopec, Stephenie D [0000-0001-7936-8577]
Boutros, Paul C [0000-0003-0553-7520]
Medical Oncology
Source :
Nature Communications, 11 (1), Nature communications, vol 11, iss 1, 11:4330, Nature Communications, Li, C H, Prokopec, S D, Sun, R X, Yousif, F, Schmitz, N, PCAWG Tumour Subtypes and Clinical Translation, Boutros, P C & PCAWG Consortium 2020, ' Sex differences in oncogenic mutational processes ', Nature Communications, vol. 11, 4330 . https://doi.org/10.1038/s41467-020-17359-2, Nature Communications, 11, Digital.CSIC. Repositorio Institucional del CSIC, instname, Li, Constance H; Prokopec, Stephenie D; Sun, Ren X; Yousif, Fouad; Schmitz, Nathaniel; Boutros, Paul C (2020). Sex differences in oncogenic mutational processes. Nature communications, 11(1), p. 4330. 10.1038/s41467-020-17359-2 , RUO. Repositorio Institucional de la Universidad de Oviedo, Nature communications, 11 (1, Nature communications, 11(1):4330. Nature Publishing Group, NATURE COMMUNICATIONS, Nature Communications, 11, 1, Li, C H, Prokopec, S D, Sun, R X, Yousif, F, Schmitz, N, Boutros, P C, PCAWG Tumour Subtypes and Clinical Translation & Brunak, S 2020, ' Sex differences in oncogenic mutational processes ', Nature Communications, vol. 11, no. 1, 4330 . https://doi.org/10.1038/s41467-020-17359-2, Nature Communications, Vol 11, Iss 1, Pp 1-24 (2020), Dipòsit Digital de la UB, Universidad de Barcelona, Li, C H, Prokopec, S D, Sun, R X, Yousif, F, Schmitz, N & Boutros, P C 2020, ' Sex differences in oncogenic mutational processes ', Nat Commun, vol. 11, no. 1, pp. 4330 . https://doi.org/10.1038/s41467-020-17359-2, Nature Communications, 11(1):4330. Nature Publishing Group
Publication Year :
2020

Abstract

Publisher's version (útgefin grein)<br />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.<br />We thank all the members of the Boutros lab for insightful discussions. This study was conducted with the support of the Ontario Institute for Cancer Research to P.C.B. through funding provided by the Government of Ontario. This work was supported by the Discovery Frontiers: Advancing Big Data Science in Genomics Research program, which is jointly funded by the Natural Sciences and Engineering Research Council (NSERC) of Canada, the Canadian Institutes of Health Research (CIHR), Genome Canada and the Canada Foundation for Innovation (CFI). P.C.B. was supported by a Terry Fox Research Institute New Investigator Award and a CIHR New Investigator Award. This work was supported by an NSERC Discovery grant and by Canadian Institutes of Health Research, grant #SVB-145586, to P.C.B. This work was supported by the NIH/NCI under award number P30CA016042 and an operating grant from the National Cancer Institute Early Detection Research Network (1U01CA214194-01). We acknowledge the contributions of the many clinical networks across ICGC and TCGA who provided samples and data to the PCAWG Consortium, and the contributions of the Technical Working Group and the Germline Working Group of the PCAWG Consortium for collation, realignment and harmonised variant calling of the cancer genomes used in this study. We thank the patients and their families for their participation in the individual ICGC and TCGA projects.

Subjects

Subjects :
sex differences
Male
Colorectal cancer
Kynferði
02 engineering and technology
0302 clinical medicine
DISPARITIES
Epidemiology of cancer
Cancer genomics
lcsh:Science
Càncer
Cancer genetics, Genome informatics, Cancer genomics, Oncogenes
Cancer genetics
Exome
Cancer
0303 health sciences
Mutation
Neoplasms -- genetics
1184 Genetics, developmental biology, physiology
Neoplasms/genetics
3. Good health
030220 oncology & carcinogenesis
Medical genetics
0210 nano-technology
Human
Sex characteristics
medicine.medical_specialty
Science
Genomic Instability
General Biochemistry, Genetics and Molecular Biology
RC0254
Càncer -- Epidemiologia
Open Reading Frames
03 medical and health sciences
SDG 3 - Good Health and Well-being
Chromosomal Instability
Sex differences
Genetics
Humans
beta Catenin -- genetics
Sex organ
SIGNATURES
45
RC0254 Neoplasms. Tumors. Oncology (including Cancer)
Oncogenes
medicine.disease
692/4028/67/69
Cancérologie
Genòmica
Logistic Models
030104 developmental biology
lcsh:Q
PCAWG Tumour Subtypes and Clinical Translation
Human genome
119
0301 basic medicine
Medizin
General Physics and Astronomy
medicine.disease_cause
Bioinformatics
Genome informatics
Genome
Neoplasms
38/23
Medicine and Health Sciences
Body Size
beta Catenin
Sex Characteristics
318 Medical biotechnology
Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17]
Multidisciplinary
article
3rd-DAS
021001 nanoscience & nanotechnology
humanities
Women's cancers Radboud Institute for Health Sciences [Radboudumc 17]
Causality
oncology
1181 Ecology, evolutionary biology
SURVIVAL
631/114/2785
Female
Càncer -- Tractament
Oncogenes -- genetics
beta Catenin/genetics
3122 Cancers
610 Medicine & health
QH426 Genetics
Biology
Cancer epidemiology
Rare Diseases
631/67/68
Krabbameinsrannsóknir
medicine
ddc:610
Gene
QH426
030304 developmental biology
Krabbamein
Oncogenes/genetics
Genome, Human
Sex organs
Human Genome
PCAWG Consortium
General Chemistry
GENE
Good Health and Well Being
Estudis de gènere
oncogenic mutational processes
692/4028/67/395
Diferències entre sexes
Gender studies
3111 Biomedicine

Details

Language :
English
ISSN :
20411723
Database :
OpenAIRE
Journal :
Nature Communications, 11 (1), Nature communications, vol 11, iss 1, 11:4330, Nature Communications, Li, C H, Prokopec, S D, Sun, R X, Yousif, F, Schmitz, N, PCAWG Tumour Subtypes and Clinical Translation, Boutros, P C &amp; PCAWG Consortium 2020, &#39; Sex differences in oncogenic mutational processes &#39;, Nature Communications, vol. 11, 4330 . https://doi.org/10.1038/s41467-020-17359-2, Nature Communications, 11, Digital.CSIC. Repositorio Institucional del CSIC, instname, Li, Constance H; Prokopec, Stephenie D; Sun, Ren X; Yousif, Fouad; Schmitz, Nathaniel; Boutros, Paul C (2020). Sex differences in oncogenic mutational processes. Nature communications, 11(1), p. 4330. 10.1038/s41467-020-17359-2 <http://dx.doi.org/10.1038/s41467-020-17359-2>, RUO. Repositorio Institucional de la Universidad de Oviedo, Nature communications, 11 (1, Nature communications, 11(1):4330. Nature Publishing Group, NATURE COMMUNICATIONS, Nature Communications, 11, 1, Li, C H, Prokopec, S D, Sun, R X, Yousif, F, Schmitz, N, Boutros, P C, PCAWG Tumour Subtypes and Clinical Translation &amp; Brunak, S 2020, &#39; Sex differences in oncogenic mutational processes &#39;, Nature Communications, vol. 11, no. 1, 4330 . https://doi.org/10.1038/s41467-020-17359-2, Nature Communications, Vol 11, Iss 1, Pp 1-24 (2020), Dip&#242;sit Digital de la UB, Universidad de Barcelona, Li, C H, Prokopec, S D, Sun, R X, Yousif, F, Schmitz, N &amp; Boutros, P C 2020, &#39; Sex differences in oncogenic mutational processes &#39;, Nat Commun, vol. 11, no. 1, pp. 4330 . https://doi.org/10.1038/s41467-020-17359-2, Nature Communications, 11(1):4330. Nature Publishing Group
Accession number :
edsair.doi.dedup.....a728e03fc4c3f01c49f94ad9a871270c

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