Highlights in Cancer Research: June 2024

The EACR’s ‘Highlights in Cancer Research’ is a regular summary of the most interesting and impactful recent papers in cancer research, curated by the Board of the European Association for Cancer Research (EACR).

The list below appears in no particular order, and the summary information has been provided by the authors unless otherwise indicated.

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8. Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme

Sosinsky, A., Ambrose, J., Cross, W. et al. Nature Medicine 30, 279-289 (2024).
doi: 10.1038/s41591-023-02682-0.

Summary of the findings

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.

Future impact

The study highlights the importance of comprehensive genomic profiling in improving cancer diagnosis and treatment, potentially transforming cancer clinical care and enabling personalised medicine. The integration of genomic data with real-world clinical outcomes will continue to refine biomarker selection, improve prognostic and predictive evaluation, and support regulatory decision-making. Future research will likely focus on integrating multimodal molecular data to maximise the benefits of precision cancer care.