Summary
This pan-cancer whole-genome study analysed 2,520 metastatic solid tumour samples to characterise the genomic landscape of late-stage cancer. The work demonstrates that whilst metastatic tumours largely reflect the mutational signatures of their primary tumour types, individual metastatic lesions are relatively homogeneous with predominantly clonal driver mutations, and that comprehensive genomic profiling can identify actionable variants in a majority of patients to inform precision medicine approaches.
UK applicability
Although this is a foundational genomic oncology study with international authorship, UK cancer centres and the NHS Genomics Medicine Service may apply these findings to develop genomic stratification protocols for metastatic cancer patients. The study's framework for clinically relevant variant review and actionability assessment is directly applicable to precision oncology programmes in the UK.
Key measures
Whole-genome sequencing depth (106× median for tumour, 38× for normal tissue); somatic variant counts (>70 million surveyed); whole-genome duplication frequency (56%); clonal driver mutation prevalence (96%); bi-allelic tumour-suppressor gene inactivation (up to 80%); actionable genetic variants (62% of patients)
Outcomes reported
The study reported whole-genome sequencing data for 2,520 pairs of metastatic tumour and normal tissue samples, characterising somatic variants, mutational landscapes, and driver genes across multiple cancer types. Researchers identified genetic variants in 62% of patients that could be used to stratify patients towards approved or clinical trial therapies.
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