Phillips, Richard, Basu, Bristi, Butt, Zohra, Beloueche, Mounia, Cook, Natalie, Crabb, Simon J., Greystoke, Alastair, Hargrave, Darren, Jones, Robert ORCID: https://orcid.org/0000-0003-3576-9496, Kureeman, Muhammad Yasin, Lopez, Juanita, McKeeve, Claire, Meissner, Magdalena, O’Carrigan, Brent, Parkes, Eileen E., Ronghe, Milind, Roxburgh, Patricia, Sarker, Debashis, Savage, Kienan I., Shaw, Paul H. S., Symeonides, Stefan, Tweddle, Deborah A., Vedi, Aditi, Walter, Harriet S., Zabkiewicz, Joanna ORCID: https://orcid.org/0000-0003-0951-3825, Middleton, Gary W. and Beggs, Andrew D.
2025.
Experimental Cancer Medicine Centre (ECMC) network proposal for a consensus gene panel for pan-cancer sequencing: a Delphi methodology.
British Journal of Cancer
10.1038/s41416-025-03252-6
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Abstract
Background The Experimental Cancer Medicine Centre (ECMC) Network supports UK-wide access to experimental cancer therapies, many of which require specific genomic alterations. This study aimed to develop expert consensus on essential genes for a pan-cancer sequencing panel, involving subject matter experts (SMEs) from the ECMC Network and the pharmaceutical industry. Methods A pilot with 8 SMEs graded 526 genes, refining the list to 210. A three-round Delphi process was then used, with SMEs iteratively evaluating each gene. In the final round, SMEs also assessed the inclusion of tumour mutational burden (TMB), microsatellite instability (MSI), and mutation types (structural variations, copy number variations, and/or fusions). Results Consensus was reached on a final panel of 99 genes applicable across multiple cancers. High agreement was also achieved for including TMB, MSI, and screening for structural variations, copy number variants, and fusions. The panel is intended for both adult and paediatric tumour types. Conclusions This consensus-based gene panel offers a standardised approach to pan-cancer genomic screening. It supports harmonised diagnostics and could improve patient access to personalised therapies and research trials across clinical and NHS settings.
| Item Type: | Article |
|---|---|
| Date Type: | Publication |
| Status: | In Press |
| Schools: | Schools > Medicine |
| Publisher: | Springer Nature [academic journals on nature.com] |
| ISSN: | 0007-0920 |
| Date of First Compliant Deposit: | 17 November 2025 |
| Date of Acceptance: | 23 October 2025 |
| Last Modified: | 17 Nov 2025 14:15 |
| URI: | https://orca.cardiff.ac.uk/id/eprint/182453 |
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