Highlights in Cancer Research: June 2024

Over the last decade, cancer incidence rates have continued to rise, underscoring the need for advanced molecular cancer testing and targeted therapies. The 100,000 Genomes Project, a UK government initiative, aimed to sequence entire genomes of patients with cancer and integrate this data with their longitudinal health records. This study analysed 13,880 tumour-normal sample pairs, providing comprehensive genomic data across 33 tumour types. The findings demonstrated the ability of whole genome sequencing (WGS) to detect a range of clinically significant mutations, including somatic variants, copy number alterations, and gene fusions, within a single test. Additionally, germline variants associated with cancer risk and pharmacogenomic markers were identified. Findings were linked to real-world clinical outcomes, showing the predictive value of certain pangenomic markers, such as tumour mutation burden (TMB) and homologous recombination deficiency (HRD), for treatment responses. The study supports the integration of WGS in clinical cancer care and has led to the establishment of the NHS Genomic Medicine Service for routine genomic testing in the UK.