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    Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden

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    Author
    Cazier, J-B; Rao, SR; McLean, CM; Walker, AL; Wright, BJ; Jaeger, EEM; Kartsonaki, C; Marsden, L; Yau, C; Camps, C; ...
    Date
    2014-04-01
    Source Title
    Nature Communications
    Publisher
    NATURE PUBLISHING GROUP
    University of Melbourne Author/s
    McLean, Catriona; McCarthy, Davis
    Affiliation
    Florey Department of Neuroscience and Mental Health
    School of Mathematics and Statistics
    Metadata
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    Document Type
    Journal Article
    Citations
    Cazier, J. -B., Rao, S. R., McLean, C. M., Walker, A. L., Wright, B. J., Jaeger, E. E. M., Kartsonaki, C., Marsden, L., Yau, C., Camps, C., Kaisaki, P., Taylor, J., Catto, J. W., Tomlinson, I. P. M., Kiltie, A. E. & Hamdy, F. C. (2014). Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden. NATURE COMMUNICATIONS, 5 (1), https://doi.org/10.1038/ncomms4756.
    Access Status
    Open Access
    URI
    http://hdl.handle.net/11343/255944
    DOI
    10.1038/ncomms4756
    Abstract
    Bladder cancers are a leading cause of death from malignancy. Molecular markers might predict disease progression and behaviour more accurately than the available prognostic factors. Here we use whole-genome sequencing to identify somatic mutations and chromosomal changes in 14 bladder cancers of different grades and stages. As well as detecting the known bladder cancer driver mutations, we report the identification of recurrent protein-inactivating mutations in CDKN1A and FAT1. The former are not mutually exclusive with TP53 mutations or MDM2 amplification, showing that CDKN1A dysfunction is not simply an alternative mechanism for p53 pathway inactivation. We find strong positive associations between higher tumour stage/grade and greater clonal diversity, the number of somatic mutations and the burden of copy number changes. In principle, the identification of sub-clones with greater diversity and/or mutation burden within early-stage or low-grade tumours could identify lesions with a high risk of invasive progression.

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