Genomic landscape of platinum resistant and sensitive testicular cancers.
de Castro, DG
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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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Neoplasms, Germ Cell and Embryonal
Genetic Predisposition to Disease
Drug Resistance, Neoplasm
Proto-Oncogene Proteins c-kit
DNA Copy Number Variations
Whole Exome Sequencing
Sarcoma Molecular Pathology
Clinical Academic Radiotherapy (Huddart)
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Nature communications, 2020, 11 (1), pp. 2189 - ?