Research Press Release

Genomics: Pan-cancer whole-genome analysis of metastatic tumours


October 24, 2019

The largest whole-genome study of metastatic solid tumours reported to date provides a valuable catalogue of the genetic features of metastatic cancer and demonstrates potential for clinical implementation as part of precision-targeted therapy. The research, published in Nature this week, will inform efforts to improve treatment for metastatic cancer, a major cause of cancer-related deaths.

Metastatic cancers tend to respond poorly to anticancer treatments. A better understanding of the genetic changes associated with the spread of cancerous cells may help to tailor personalized treatments and improve outcomes.

Edwin Cuppen and colleagues analysed more than 2,500 tumour samples from 2,399 patients with cancer, and compared the genomes with those of non-cancerous blood cells from the same patients. Their findings complement other whole-genome analyses of primary tumours, but also identify novel drivers of cancer and genetic ‘hotspots’ for mutations. Although the mutations and driver genes in the genomes of metastatic tumours are largely similar to those in primary tumours, the analysis identifies characteristics that may relate to treatment responsiveness or resistance in individual patients. Genetic variants that may be associated with treatment outcomes for approved therapies were identified in 62% of the patients.

The study highlights the value of whole-genome sequencing for understanding metastatic cancer and precision-targeted therapies.


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