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Whole-exome sequencing reveals the mutational spectrum of testicular germ cell tumours

Author

Listed:
  • Kevin Litchfield

    (The Institute of Cancer Research)

  • Brenda Summersgill

    (The Institute of Cancer Research)

  • Shawn Yost

    (The Institute of Cancer Research)

  • Razvan Sultana

    (The Institute of Cancer Research)

  • Karim Labreche

    (The Institute of Cancer Research
    Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM)

  • Darshna Dudakia

    (The Institute of Cancer Research)

  • Anthony Renwick

    (The Institute of Cancer Research)

  • Sheila Seal

    (The Institute of Cancer Research)

  • Reem Al-Saadi

    (The Institute of Cancer Research)

  • Peter Broderick

    (The Institute of Cancer Research)

  • Nicholas C. Turner

    (The Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research)

  • Richard S. Houlston

    (The Institute of Cancer Research)

  • Robert Huddart

    (Academic Radiotherapy Unit, The Institute of Cancer Research)

  • Janet Shipley

    (The Institute of Cancer Research)

  • Clare Turnbull

    (The Institute of Cancer Research
    William Harvey Research Institute, Queen Mary University London)

Abstract

Testicular germ cell tumours (TGCTs) are the most common cancer in young men. Here we perform whole-exome sequencing (WES) of 42 TGCTs to comprehensively study the cancer's mutational profile. The mutation rate is uniformly low in all of the tumours (mean 0.5 mutations per Mb) as compared with common cancers, consistent with the embryological origin of TGCT. In addition to expected copy number gain of chromosome 12p and mutation of KIT, we identify recurrent mutations in the tumour suppressor gene CDC27 (11.9%). Copy number analysis reveals recurring amplification of the spermatocyte development gene FSIP2 (15.3%) and a 0.4 Mb region at Xq28 (15.3%). Two treatment-refractory patients are shown to harbour XRCC2 mutations, a gene strongly implicated in defining cisplatin resistance. Our findings provide further insights into genes involved in the development and progression of TGCT.

Suggested Citation

  • Kevin Litchfield & Brenda Summersgill & Shawn Yost & Razvan Sultana & Karim Labreche & Darshna Dudakia & Anthony Renwick & Sheila Seal & Reem Al-Saadi & Peter Broderick & Nicholas C. Turner & Richard , 2015. "Whole-exome sequencing reveals the mutational spectrum of testicular germ cell tumours," Nature Communications, Nature, vol. 6(1), pages 1-8, May.
    • Handle: RePEc:nat:natcom:v:6:y:2015:i:1:d:10.1038_ncomms6973
    DOI: 10.1038/ncomms6973
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    Cited by:

    1. Alper Uzun & Jessica Schuster & Bethany McGonnigal & Christoph Schorl & Andrew Dewan & James Padbury, 2016. "Targeted Sequencing and Meta-Analysis of Preterm Birth," PLOS ONE, Public Library of Science, vol. 11(5), pages 1-17, May.

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