Genomic profiling in renal cell carcinoma.
Angiogenesis Inhibitors
/ therapeutic use
Antineoplastic Agents
/ therapeutic use
Antineoplastic Agents, Immunological
/ therapeutic use
Carcinoma, Renal Cell
/ drug therapy
DNA Methylation
/ genetics
DNA Repair
/ genetics
DNA-Binding Proteins
/ genetics
Enhancer of Zeste Homolog 2 Protein
/ genetics
Genomics
Histone-Lysine N-Methyltransferase
/ genetics
Humans
Kidney Neoplasms
/ drug therapy
Molecular Targeted Therapy
Neurofibromin 2
/ genetics
PTEN Phosphohydrolase
/ genetics
Precision Medicine
Prognosis
Protein Kinase Inhibitors
/ therapeutic use
Proto-Oncogene Proteins c-met
/ genetics
Telomerase
/ genetics
Transcription Factors
/ genetics
Transcriptome
Tumor Suppressor Protein p53
/ genetics
Tumor Suppressor Proteins
/ genetics
Ubiquitin Thiolesterase
/ genetics
Von Hippel-Lindau Tumor Suppressor Protein
/ genetics
Journal
Nature reviews. Nephrology
ISSN: 1759-507X
Titre abrégé: Nat Rev Nephrol
Pays: England
ID NLM: 101500081
Informations de publication
Date de publication:
08 2020
08 2020
Historique:
accepted:
28
04
2020
pubmed:
21
6
2020
medline:
11
11
2020
entrez:
21
6
2020
Statut:
ppublish
Résumé
The treatment landscape of metastatic renal cell carcinoma (RCC) has been revolutionized over the past two decades, bringing forth an era in which more than a dozen therapeutic agents are now available to treat patients. As a consequence, personalized care has become a critical part of developing effective treatment guidelines and improving patient outcomes. One of the most important emerging aspects of precision medicine in cancer is matching patients and treatments based on the genomic characteristics of an individual and their tumour. Despite the lack of a single genomic predictor of treatment response or prognostication feature in RCC, emerging research suggests that the identification of such markers remains promising. Mutations in VHL and alterations in its downstream pathways are the mainstay of RCC development and progression. However, the predictive value of VHL mutations has been questioned. Further research has examined mutations in genes involved in chromosome remodelling (for example, PBRM1, BAP1 and SETD2), DNA methylation and DNA damage repair, all of which have been associated with clinical outcomes. Here, we provide a comprehensive overview of genomic evidence in the context of RCC and its potential predictive and prognostic value.
Identifiants
pubmed: 32561872
doi: 10.1038/s41581-020-0301-x
pii: 10.1038/s41581-020-0301-x
doi:
Substances chimiques
Angiogenesis Inhibitors
0
Antineoplastic Agents
0
Antineoplastic Agents, Immunological
0
BAP1 protein, human
0
DNA-Binding Proteins
0
NF2 protein, human
0
Neurofibromin 2
0
PBRM1 protein, human
0
Protein Kinase Inhibitors
0
TP53 protein, human
0
Transcription Factors
0
Tumor Suppressor Protein p53
0
Tumor Suppressor Proteins
0
EZH2 protein, human
EC 2.1.1.43
Enhancer of Zeste Homolog 2 Protein
EC 2.1.1.43
Histone-Lysine N-Methyltransferase
EC 2.1.1.43
SETD2 protein, human
EC 2.1.1.43
Von Hippel-Lindau Tumor Suppressor Protein
EC 2.3.2.27
MET protein, human
EC 2.7.10.1
Proto-Oncogene Proteins c-met
EC 2.7.10.1
TERT protein, human
EC 2.7.7.49
Telomerase
EC 2.7.7.49
PTEN Phosphohydrolase
EC 3.1.3.67
PTEN protein, human
EC 3.1.3.67
Ubiquitin Thiolesterase
EC 3.4.19.12
VHL protein, human
EC 6.3.2.-
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
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