Whole-exome sequencing reveals the mutational spectrum of testicular germ cell tumours.
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Authors
Litchfield, K
Summersgill, B
Yost, S
Sultana, R
Labreche, K
Dudakia, D
Renwick, A
Seal, S
Al-Saadi, R
Broderick, P
Turner, NC
Houlston, RS
Huddart, R
Shipley, J
Turnbull, C
Summersgill, B
Yost, S
Sultana, R
Labreche, K
Dudakia, D
Renwick, A
Seal, S
Al-Saadi, R
Broderick, P
Turner, NC
Houlston, RS
Huddart, R
Shipley, J
Turnbull, C
Document Type
Journal Article
Date
2015-01-22
Date Accepted
2014-11-25
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.
Citation
Nature communications, 2015, 6 pp. 5973 - ?
Source Title
Publisher
NATURE PUBLISHING GROUP
ISSN
2041-1723
eISSN
2041-1723
Research Team
Molecular Oncology
Cancer Genomics
Molecular & Population Genetics
Sarcoma Molecular Pathology
Clinical Academic Radiotherapy (Huddart)
Cancer Genomics
Molecular & Population Genetics
Sarcoma Molecular Pathology
Clinical Academic Radiotherapy (Huddart)