Genomic complexity of urothelial bladder cancer revealed in urinary cfDNA

Fiona Togneri, Douglas Ward, Joseph Foster, Adam Devall, Paula Wojtowicz, Sofia Alyas, Fabiana Ramos Vasques, Assa Oumie, Nicholas James, Kar Cheng, Maurice Zeegers, Nayneeta Deshmukh, Brendan O'Sullivan, Philippe Taniere, Karen Spink, Dominic McMullan, Mike Griffiths, Richard Bryan

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70 Citations (Scopus)


Urothelial bladder cancers (UBCs) have heterogeneous clinical characteristics that are mirrored in their diverse genomic profiles. Genomic profiling of UBCs has the potential to benefit routine clinical practice by providing prognostic utility above and beyond conventional clinicopathological factors, and allowing for prediction and surveillance of treatment responses. Urinary DNAs representative of the tumour genome provide a promising resource as a liquid biopsy for non-invasive genomic profiling of UBCs. We compared the genomic profiles of urinary cellular DNA and cell-free DNA (cfDNA) from the urine with matched diagnostic formalin-fixed paraffin-embedded tumour DNAs for 23 well-characterised UBC patients. Our data show urinary DNAs to be highly representative of patient tumours, allowing for detection of recurrent clinically actionable genomic aberrations. Furthermore, a greater aberrant load (indicative of tumour genome) was observed in cfDNA over cellular DNA (P<0.001), resulting in a higher analytical sensitivity for detection of clinically actionable genomic aberrations (P<0.04) when using cfDNA. Thus, cfDNA extracted from the urine of UBC patients has a higher tumour genome burden and allows greater detection of key genomic biomarkers (90%) than cellular DNA from urine (61%) and provides a promising resource for robust whole-genome tumour profiling of UBC with potential to influence clinical decisions without invasive patient interventions.
Original languageEnglish
Pages (from-to)1167–1174
Number of pages8
JournalEuropean Journal of Human Genetics
Issue number8
Publication statusPublished - 13 Jan 2016

Bibliographical note

Information shown on PubMed - Eur J Hum Genet
. 2016 Aug;24(8):1167-74. doi: 10.1038/ejhg.2015.281. Epub 2016 Jan 13.


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  • European Journal of Human Genetics 2018

    Togneri, Fiona (Recipient), Ward, Douglas (Recipient), Foster, Joseph M (Recipient), Devall, Adam (Recipient), Wojtowicz, Paula (Recipient), Alyas, Sofia (Recipient), Ramos Vasques, Fabiana (Recipient), Oumie, Assa (Recipient), James, Nicholas (Recipient), Cheng, KK (Recipient), Zeegers, Maurice (Recipient), Deshmukh, Nayneeta (Recipient), O'Sullivan, Brendan (Recipient), Taniere, Philippe (Recipient), Spink, Karen G (Recipient), McMullan, Dominic (Recipient), Griffiths, Mike (Recipient) & Bryan, Rik (Recipient), 22 Feb 2018

    Prize: Other distinction

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