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

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 S. Houlston, Robert Huddart, Janet Shipley and Clare Turnbull ()
Additional contact information
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
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

Nature Communications, 2015, vol. 6, issue 1, 1-8

Abstract: 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.

Date: 2015
References: Add references at CitEc
Citations: View citations in EconPapers (1)

Downloads: (external link)
https://www.nature.com/articles/ncomms6973 Abstract (text/html)

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:nat:natcom:v:6:y:2015:i:1:d:10.1038_ncomms6973

Ordering information: This journal article can be ordered from
https://www.nature.com/ncomms/

DOI: 10.1038/ncomms6973

Access Statistics for this article

Nature Communications is currently edited by Nathalie Le Bot, Enda Bergin and Fiona Gillespie

More articles in Nature Communications from Nature
Bibliographic data for series maintained by Sonal Shukla () and Springer Nature Abstracting and Indexing ().