IDEAS home Printed from https://ideas.repec.org/a/nat/natcom/v6y2015i1d10.1038_ncomms6973.html
   My bibliography  Save this article

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
    as

    Download full text from publisher

    File URL: https://www.nature.com/articles/ncomms6973
    File Function: Abstract
    Download Restriction: no

    File URL: https://libkey.io/10.1038/ncomms6973?utm_source=ideas
    LibKey link: if access is restricted and if your library uses this service, LibKey will redirect you to where you can use your library subscription to access this item
    ---><---

    Citations

    Citations are extracted by the CitEc Project, subscribe to its RSS feed for this item.
    as


    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.

    More about this item

    Statistics

    Access and download statistics

    Corrections

    All material on this site has been provided by the respective publishers and authors. You can help correct errors and omissions. When requesting a correction, please mention this item's handle: RePEc:nat:natcom:v:6:y:2015:i:1:d:10.1038_ncomms6973. See general information about how to correct material in RePEc.

    If you have authored this item and are not yet registered with RePEc, we encourage you to do it here. This allows to link your profile to this item. It also allows you to accept potential citations to this item that we are uncertain about.

    We have no bibliographic references for this item. You can help adding them by using this form .

    If you know of missing items citing this one, you can help us creating those links by adding the relevant references in the same way as above, for each refering item. If you are a registered author of this item, you may also want to check the "citations" tab in your RePEc Author Service profile, as there may be some citations waiting for confirmation.

    For technical questions regarding this item, or to correct its authors, title, abstract, bibliographic or download information, contact: Sonal Shukla or Springer Nature Abstracting and Indexing (email available below). General contact details of provider: http://www.nature.com .

    Please note that corrections may take a couple of weeks to filter through the various RePEc services.

    IDEAS is a RePEc service. RePEc uses bibliographic data supplied by the respective publishers.