Characterization of Genetic Heterogeneity in Recurrent Metastases of Renal Cell Carcinoma.
metastasis
next-generation sequencing
personalized therapy
pharmacogenomics
renal cell carcinoma
Journal
Cancers
ISSN: 2072-6694
Titre abrégé: Cancers (Basel)
Pays: Switzerland
ID NLM: 101526829
Informations de publication
Date de publication:
10 Dec 2021
10 Dec 2021
Historique:
received:
03
11
2021
revised:
02
12
2021
accepted:
04
12
2021
entrez:
24
12
2021
pubmed:
25
12
2021
medline:
25
12
2021
Statut:
epublish
Résumé
Metastatic renal cell carcinoma (RCC) exhibits poor prognosis. Better knowledge of distant metastases is crucial to foster personalized treatment strategies. Here, we aimed to investigate the genetic landscape of metastases, including synchronous and/or recurrent metastases to elucidate potential drug target genes and clinically relevant mutations in a real-world setting of patients. We assessed 81 metastases from 56 RCC patients, including synchronous and/or recurrent metastases of 19 patients. Samples were analysed through next-generation sequencing with a high coverage (~1000× mean coverage). We therefore established a novel sequencing panel comprising 32 genes with impact on RCC development. We observed a high frequency of mutations in known RCC driver genes (e.g., >40% carriers of
Identifiants
pubmed: 34944839
pii: cancers13246221
doi: 10.3390/cancers13246221
pmc: PMC8699544
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : Robert Bosch Stiftung (Stuttgart, Germany)
ID : NA
Organisme : Horizon 2020-PHC-2015
ID : U-PGx 668353
Organisme : Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) under Germany's Excellence Strategy
ID : EXC 2180 - 390900677
Organisme : ICEPHA Graduate School Tuebingen-Stuttgart
ID : NA
Organisme : IZKF Program of the Medical Faculty Tuebingen
ID : NA
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