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.

Sex differences in oncogenic mutational processes

Malcovati L.;
2020-01-01

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.
2020
Oncogenesis & Cancer Research
The Hematology category covers resources concerned with blood, blood-forming tissues, bone marrow, plasma, and transfusions. Coverage also includes resources on specialties such as hemophilia, leukemia, and lymphoma.
Esperti anonimi
Inglese
Internazionale
ELETTRONICO
11
1
4330
Chromosomal Instability; Exome; Female; Genome, Human; Genomic Instability; Humans; Logistic Models; Male; Neoplasms; Oncogenes; Open Reading Frames; beta Catenin; Mutation; Sex Characteristics
https://www.nature.com/articles/s41467-020-17359-2
1376
info:eu-repo/semantics/article
262
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, ...espandi
1 Contributo su Rivista::1.1 Articolo in rivista
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11571/1369454
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