Deletion and mutation of FAT1 in bladder SCC

Deletion and mutation of FAT1 in bladder SCC

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Pure squamous cell carcinoma (SCC) is the most common pure variant form of bladder cancer, found in 2–5% of cases. It often presents late and is unresponsive to cisplatin‐based chemotherapy. The molecular features of these tumours have not been elucidated in detail. We carried out whole‐exome sequencing (WES), copy number, and transcriptome analysi...

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Context 1
... the mean fraction of genome altered was 34.0% (range 0.28-66.6%, median 40.5%) with no gender-related difference (supplementary material, Table S1). Regions on 37 chromosome arms showed alterations in ≥25% of samples ( Figure 2A). ...
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... on 37 chromosome arms showed alterations in ≥25% of samples ( Figure 2A). Significant regions (supplementary material, Table S1) included losses on 3p, 4p, and 8p, and gains on 5p, 7p, 8q, and 20, as reported in other SCC [22][23][24][25][26][27][28]. ...
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... 4q contains FAT1 (4q35.2). Assessment of 4q35.2 copy number and mutation data revealed that 10 out of 11 samples examined by WES had deletion, mutation, or both ( Table 1), suggesting that loss of function of FAT1 is a critical event in these tumours. ...
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... expression of selected genes implicated in YAP/TAZ-mediated stemness and modulation of the immune response in pure SCC and MIBC without SD (non-SD) Figure S12. Differential expression of selected genes implicated in YAP/TAZ-mediated stemness and modulation of the immune response in samples with SD and those without (non-SD) in the TCGA study of MIBC Table S1. Details of patients, samples, and analysis platforms Table S2. ...

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