基因君官网
2015年2月27日讯 /生物谷BIOON/ –一项科学调查研究已发现了可能驱动睾丸癌的一些新基因突变，也确定了可能导致肿瘤获得耐药的关键基因。
doi:10.1038/ncomms6973
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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 & Clare Turnbull
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.