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.

Li, C., Prokopec, S., Sun, R., Yousif, F., Schmitz, N., Al-Shahrour, F., et al. (2020). Sex differences in oncogenic mutational processes. NATURE COMMUNICATIONS, 11(1) [10.1038/s41467-020-17359-2].

Sex differences in oncogenic mutational processes

Gambacorti Passerini C.;
2020

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.
Articolo in rivista - Articolo scientifico
Cancer genetics, Genome informatics, Cancer genomics, Oncogenes
English
2020
11
1
4330
none
Li, C., Prokopec, S., Sun, R., Yousif, F., Schmitz, N., Al-Shahrour, F., et al. (2020). Sex differences in oncogenic mutational processes. NATURE COMMUNICATIONS, 11(1) [10.1038/s41467-020-17359-2].
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/284732
Citazioni
  • Scopus 52
  • ???jsp.display-item.citation.isi??? 45
Social impact