Ontology highlight
ABSTRACT:
SUBMITTER: Aoude LG
PROVIDER: S-EPMC7572377 | biostudies-literature | 2020 Oct
REPOSITORIES: biostudies-literature
Aoude Lauren G LG Bonazzi Vanessa F VF Brosda Sandra S Patel Kalpana K Koufariotis Lambros T LT Oey Harald H Nones Katia K Wood Scott S Pearson John V JV Lonie James M JM Arneil Melissa M Atkinson Victoria V Smithers B Mark BM Waddell Nicola N Barbour Andrew P AP
Scientific reports 20201019 1
Patients with late stage resected cutaneous melanoma have poor overall survival (OS) and experience irreversible adverse events from systemic therapy. There is a clinical need to identify biomarkers to predict outcome. Performing germline/tumour whole-exome sequencing of 44 stage III/IV melanoma patients we identified pathogenic germline mutations in CDKN2A, CDK4, ATM, POLH, MRE11A, RECQL4 and XPC, affecting 7/44 patients. These mutations were associated with poor OS (p = 0.0082). We confirmed o ...[more]