Genomic landscape of platinum resistant and sensitive testicular cancers.
de Castro, DG
MetadataShow full item record
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.
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)
License start date
Nature communications, 2020, 11 (1), pp. 2189 - ?
NATURE PUBLISHING GROUP