Genomic landscape of platinum resistant and sensitive testicular cancers

• DOI: 10.1038/s41467-020-15768-x
• Publication Date: 2020-05-04T10:05:01Z
• Authors: Chey Loveday; Kevin Litchfield; Paula Z. Proszek; Alex J. Cornish; Flavia Santo; Max Levy; Geoff Macintyre; Amy Holryod; Peter Broderick; Darshna Dudakia; Barbara Benton; Maise Al Bakir; Crispin Hiley; Emily Grist; Charles Swanton; Robert Huddart; Tom Powles; Simon Chowdhury; Janet Shipley; Simon O’Connor; James D. Brenton; Alison Reid; David Gonzalez de...; Richard S. Houlston; Clare Turnbull
• Keywords: Exome

Abstract While most testicular germ cell tumours (TGCTs) exhibit exquisite sensitivity to platinum chemotherapy, ~10% are resistant. To gain insight into the underlying mechanisms, we undertake whole exome sequencing and copy number analysis in 40 from 26 cases with platinum-resistant TGCT, combine this published genomic data on an additional 624 TGCTs. We integrate analyses for driver mutations, mutational burden, global, arm-level focal (CN) events, SNV CN signatures. Albeit preliminary observational nature, these provide support a possible mechanistic link between early mutations RAS KIT widespread events by which TGCT is characterised.