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Whole genome sequencing refines stratification and therapy of patients with clear cell renal cell carcinoma

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2024

Autor:innen

Culliford, Richard
Lawrence, Samuel E. D.
Mills, Charlie
Tippu, Zayd
Chubb, Daniel
Cornish, Alex J.
Browning, Lisa
Kinnersley, Ben
Houlston, Richard S.
et al.

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Nature Communications. Springer. 2024, 15, 5935. eISSN 2041-1723. Verfügbar unter: doi: 10.1038/s41467-024-49692-1

Zusammenfassung

Clear cell renal cell carcinoma (ccRCC) is the most common form of kidney cancer, but a comprehensive description of its genomic landscape is lacking. We report the whole genome sequencing of 778 ccRCC patients enrolled in the 100,000 Genomes Project, providing for a detailed description of the somatic mutational landscape of ccRCC. We identify candidate driver genes, which as well as emphasising the major role of epigenetic regulation in ccRCC highlight additional biological pathways extending opportunities for therapeutic interventions. Genomic characterisation identified patients with divergent clinical outcome; higher number of structural copy number alterations associated with poorer prognosis, whereas VHL mutations were independently associated with a better prognosis. The observations that higher T-cell infiltration is associated with better overall survival and that genetically predicted immune evasion is not common supports the rationale for immunotherapy. These findings should inform personalised surveillance and treatment strategies for ccRCC patients.

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570 Biowissenschaften, Biologie

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ISO 690CULLIFORD, Richard, Samuel E. D. LAWRENCE, Charlie MILLS, Zayd TIPPU, Daniel CHUBB, Alex J. CORNISH, Lisa BROWNING, Ben KINNERSLEY, Andreas J. GRUBER, Richard S. HOULSTON, 2024. Whole genome sequencing refines stratification and therapy of patients with clear cell renal cell carcinoma. In: Nature Communications. Springer. 2024, 15, 5935. eISSN 2041-1723. Verfügbar unter: doi: 10.1038/s41467-024-49692-1
BibTex
@article{Culliford2024Whole-70462,
  year={2024},
  doi={10.1038/s41467-024-49692-1},
  title={Whole genome sequencing refines stratification and therapy of patients with clear cell renal cell carcinoma},
  volume={15},
  journal={Nature Communications},
  author={Culliford, Richard and Lawrence, Samuel E. D. and Mills, Charlie and Tippu, Zayd and Chubb, Daniel and Cornish, Alex J. and Browning, Lisa and Kinnersley, Ben and Gruber, Andreas J. and Houlston, Richard S.},
  note={Article Number: 5935}
}
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