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- W2551032364 abstract "There is a striking and unexplained male predominance across many cancer types. A subset of X-chromosome genes can escape X-inactivation, which would protect females from complete functional loss by a single mutation. To identify putative 'escape from X-inactivation tumor-suppressor' (EXITS) genes, we examined somatic alterations from >4,100 cancers across 21 tumor types for sex bias. Six of 783 non-pseudoautosomal region (PAR) X-chromosome genes (ATRX, CNKSR2, DDX3X, KDM5C, KDM6A, and MAGEC3) harbored loss-of-function mutations more frequently in males (based on a false discovery rate < 0.1), in comparison to zero of 18,055 autosomal and PAR genes (Fisher's exact P < 0.0001). Male-biased mutations in genes that escape X-inactivation were observed in combined analysis across many cancers and in several individual tumor types, suggesting a generalized phenomenon. We conclude that biallelic expression of EXITS genes in females explains a portion of the reduced cancer incidence in females as compared to males across a variety of tumor types." @default.
- W2551032364 created "2016-11-30" @default.
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- W2551032364 date "2016-11-21" @default.
- W2551032364 modified "2023-10-16" @default.
- W2551032364 title "Tumor-suppressor genes that escape from X-inactivation contribute to cancer sex bias" @default.
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- W2551032364 doi "https://doi.org/10.1038/ng.3726" @default.
- W2551032364 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5206905" @default.
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