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Loveday, Chey; Litchfield, Kevin; Proszek, Paula Z; Cornish, Alex J; Santo, Flavia; Levy, Max; Macintyre, Geoff; Holryod, Amy; Broderick, Peter; Dudakia, Darshna; Benton, Barbara; Bakir, Maise Al; Hiley, Crispin; Grist, Emily; Swanton, Charles; Huddart, Robert; Powles, Tom; Chowdhury, Simon; Shipley, Janet; O'Connor, Simon; Brenton, James D; Reid, Alison; de Castro, David Gonzalez; Houlston, Richard S; Turnbull, Clare
Nature communications, 05/2020, Letnik: 11, Številka: 1Journal Article
While most testicular germ cell tumours (TGCTs) exhibit exquisite sensitivity to platinum chemotherapy, ~10% are platinum resistant. To gain insight into the underlying mechanisms, we undertake whole exome sequencing and copy number analysis in 40 tumours from 26 cases with platinum-resistant TGCT, and combine this with published genomic data on an additional 624 TGCTs. We integrate analyses for driver mutations, mutational burden, global, arm-level and focal copy number (CN) events, and SNV and CN signatures. Albeit preliminary and observational in nature, these analyses provide support for a possible mechanistic link between early driver mutations in RAS and KIT and the widespread copy number events by which TGCT is characterised.
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JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
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Vir: Osebne bibliografije
in: SICRIS
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