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Nat Commun. 2015 Jan 22;6:5973. doi: 10.1038/ncomms6973.

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

Author information

1
Division of Genetics and Epidemiology, The Institute of Cancer Research, Fulham Road, London SW3 6JB, UK.
2
Divisions of Molecular Pathology and Cancer Therapeutics, The Institute of Cancer Research, Fulham Road, London SW3 6JB, UK.
3
1] Division of Genetics and Epidemiology, The Institute of Cancer Research, Fulham Road, London SW3 6JB, UK [2] Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, F-75019, Paris, France.
4
The Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, Fulham Road, London SW3 6JB, UK.
5
Academic Radiotherapy Unit, The Institute of Cancer Research, Fulham Road, London SW3 6JB, UK.
6
1] Division of Genetics and Epidemiology, The Institute of Cancer Research, Fulham Road, London SW3 6JB, UK [2] William Harvey Research Institute, Queen Mary University London, Charterhouse Square, London EC1M 6BQ, UK.

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.

PMID:
25609015
PMCID:
PMC4338546
DOI:
10.1038/ncomms6973
[Indexed for MEDLINE]
Free PMC Article

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