Article
Extensive heterogeneity in somatic mutation and selection in the human bladder.
Science (New York, N.Y.) - 2 Oct 2020
Lawson Andrew R J, Abascal Federico, Coorens Tim H H, Hooks Yvette, O'Neill Laura, Latimer Calli, Raine Keiran, Sanders Mathijs A, Warren Anne Y, Mahbubani Krishnaa T A, Bareham Bethany, Butler Timothy M, Harvey Luke M R, Cagan Alex, Menzies Andrew, Moore Luiza, Colquhoun Alexandra J, Turner William, Thomas Benjamin, Gnanapragasam Vincent, Williams Nicholas, Rassl Doris M, Vöhringer Harald, Zumalave Sonia, Nangalia Jyoti, Tubío José M C, Gerstung Moritz, Saeb-Parsy Kourosh, Stratton Michael R, Campbell Peter J, Mitchell Thomas J, Martincorena Iñigo
Abstract excerpt
The extent of somatic mutation and clonal selection in the human bladder remains unknown. We sequenced 2097 bladder microbiopsies from 20 individuals using targeted (n = 1914 microbiopsies), whole-exome (n = 655), and whole-genome (n = 88) sequencing. We found widespread positive selection in 17 genes. Chromatin remodeling genes were frequently mutated, whereas mutations were absent in several major bladder...
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