The mutational landscape of melanoma brain metastases presenting as the first visceral site of recurrence.
Journal
British journal of cancer
ISSN: 1532-1827
Titre abrégé: Br J Cancer
Pays: England
ID NLM: 0370635
Informations de publication
Date de publication:
01 2021
01 2021
Historique:
received:
23
02
2020
accepted:
24
08
2020
revised:
10
06
2020
pubmed:
8
10
2020
medline:
21
4
2021
entrez:
7
10
2020
Statut:
ppublish
Résumé
Brain metastases are a major cause of melanoma-related mortality and morbidity. We undertook whole-exome sequencing of 50 tumours from patients undergoing surgical resection of brain metastases presenting as the first site of visceral disease spread and validated our findings in an independent dataset of 18 patients. Brain metastases had a similar driver mutational landscape to cutaneous melanomas in TCGA. However, KRAS was the most significantly enriched driver gene, with 4/50 (8%) of brain metastases harbouring non-synonymous mutations. Hotspot KRAS mutations were mutually exclusive from BRAF
Identifiants
pubmed: 33024263
doi: 10.1038/s41416-020-01090-2
pii: 10.1038/s41416-020-01090-2
pmc: PMC7782512
doi:
Substances chimiques
KRAS protein, human
0
Proto-Oncogene Proteins p21(ras)
EC 3.6.5.2
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, N.I.H., Intramural
Research Support, U.S. Gov't, Non-P.H.S.
Langues
eng
Sous-ensembles de citation
IM
Pagination
156-160Subventions
Organisme : Department of Health | National Health and Medical Research Council (NHMRC)
ID : APP1113867
Organisme : NCI NIH HHS
ID : P50 CA225450
Pays : United States
Organisme : NCI NIH HHS
ID : T32 CA154274
Pays : United States
Organisme : NIGMS NIH HHS
ID : R25 GM055036
Pays : United States
Organisme : Department of Health | National Health and Medical Research Council (NHMRC)
ID : APP1093017
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