Sex differences in oncogenic mutational processes
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Sex differences in oncogenic mutational processes. / Li, Constance H; Prokopec, Stephenie D; Sun, Ren X; Yousif, Fouad; Schmitz, Nathaniel; Boutros, Paul C; PCAWG Tumour Subtypes and Clinical Translation ; Brunak, Søren.
In: Nature Communications, Vol. 11, No. 1, 4330, 2020.Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
T1 - Sex differences in oncogenic mutational processes
AU - Li, Constance H
AU - Prokopec, Stephenie D
AU - Sun, Ren X
AU - Yousif, Fouad
AU - Schmitz, Nathaniel
AU - Boutros, Paul C
AU - PCAWG Tumour Subtypes and Clinical Translation
AU - Brunak, Søren
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 - Chromosomal Instability
KW - Exome
KW - Female
KW - Genome, Human
KW - Genomic Instability
KW - Humans
KW - Logistic Models
KW - Male
KW - Mutation
KW - Neoplasms/genetics
KW - Oncogenes/genetics
KW - Open Reading Frames
KW - Sex Characteristics
KW - beta Catenin/genetics
U2 - 10.1038/s41467-020-17359-2
DO - 10.1038/s41467-020-17359-2
M3 - Journal article
C2 - 32859912
VL - 11
JO - Nature Communications
JF - Nature Communications
SN - 2041-1723
IS - 1
M1 - 4330
ER -
ID: 248764165