Sex differences in oncogenic mutational processes

-, -; Li, Constance H.; Prokopec, Stephenie D.; Sun, Ren X.; Yousif, Fouad; Schmitz, Nathaniel; Al-Shahrour, Fatima; Atwal, Gurnit; Bailey, Peter J.; Biankin, Andrew V.; Boutros, Paul C.; Campbell, Peter J.; Chang, David K.; Cooke, Susanna L.; Deshpande, Vikram; Faltas, Bishoy M.; Faquin, William C.; Garraway, Levi; Getz, Gad; Grimmond, Sean M.; Haider, Syed; Hoadley, Katherine A.; Jiao, Wei; Kaiser, Vera B.; Karlić, Rosa; Kato, Mamoru; Kübler, Kirsten; Lazar, Alexander J.; Li, Constance H.; Louis, David N.; Margolin, Adam; Martin, Sancha; Nahal-Bose, Hardeep K.; Nielsen, G. Petur; Nik-Zainal, Serena; Omberg, Larsson; P’ng, Christine; Perry, Marc D.; Polak, Paz; Rheinbay, Esther; Rubin, Mark A.; Semple, Colin A.; Sgroi, Dennis C.; Shibata, Tatsuhiro; Siebert, Reiner; Smith, Jaclyn; Stein, Lincoln D.; Stobbe, Miranda D.; Sun, Ren X.; Thai, Kevin; Visakorpi, Tapio; Bova, Steve (2020)
 
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-, -
Li, Constance H.
Prokopec, Stephenie D.
Sun, Ren X.
Yousif, Fouad
Schmitz, Nathaniel
Al-Shahrour, Fatima
Atwal, Gurnit
Bailey, Peter J.
Biankin, Andrew V.
Boutros, Paul C.
Campbell, Peter J.
Chang, David K.
Cooke, Susanna L.
Deshpande, Vikram
Faltas, Bishoy M.
Faquin, William C.
Garraway, Levi
Getz, Gad
Grimmond, Sean M.
Haider, Syed
Hoadley, Katherine A.
Jiao, Wei
Kaiser, Vera B.
Karlić, Rosa
Kato, Mamoru
Kübler, Kirsten
Lazar, Alexander J.
Li, Constance H.
Louis, David N.
Margolin, Adam
Martin, Sancha
Nahal-Bose, Hardeep K.
Nielsen, G. Petur
Nik-Zainal, Serena
Omberg, Larsson
P’ng, Christine
Perry, Marc D.
Polak, Paz
Rheinbay, Esther
Rubin, Mark A.
Semple, Colin A.
Sgroi, Dennis C.
Shibata, Tatsuhiro
Siebert, Reiner
Smith, Jaclyn
Stein, Lincoln D.
Stobbe, Miranda D.
Sun, Ren X.
Thai, Kevin
Visakorpi, Tapio
Bova, Steve
2020

Nature Communications
4330
doi:10.1038/s41467-020-17359-2
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https://urn.fi/URN:NBN:fi:tuni-202012108718

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Peer reviewed
Tiivistelmä
<p>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.</p>
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