Identification of targetable BRAF ΔN486_P490 variant by whole-genome sequencing leading to dabrafenib-induced remission of a
Adenocarcinoma
/ genetics
Aged
Biomarkers, Tumor
/ genetics
Carcinoma, Non-Small-Cell Lung
/ drug therapy
Humans
Imidazoles
/ therapeutic use
Lung Neoplasms
/ genetics
Male
Mutation
Oximes
/ therapeutic use
Pancreatic Neoplasms
/ genetics
Protein Kinase Inhibitors
/ therapeutic use
Proto-Oncogene Proteins B-raf
/ genetics
Remission Induction
Whole Genome Sequencing
/ methods
Pancreatic Neoplasms
neoplasm of the pancreas
Journal
Cold Spring Harbor molecular case studies
ISSN: 2373-2873
Titre abrégé: Cold Spring Harb Mol Case Stud
Pays: United States
ID NLM: 101660017
Informations de publication
Date de publication:
12 2019
12 2019
Historique:
received:
21
05
2019
accepted:
07
08
2019
pubmed:
15
9
2019
medline:
22
8
2020
entrez:
15
9
2019
Statut:
epublish
Résumé
The tumor genome of a patient with advanced pancreatic cancer was sequenced to identify potential therapeutic targetable mutations after standard of care failed to produce any significant overall response. Matched tumor-normal whole-genome sequencing revealed somatic mutations in
Identifiants
pubmed: 31519698
pii: mcs.a004424
doi: 10.1101/mcs.a004424
pmc: PMC6913137
pii:
doi:
Substances chimiques
Biomarkers, Tumor
0
Imidazoles
0
Oximes
0
Protein Kinase Inhibitors
0
BRAF protein, human
EC 2.7.11.1
Proto-Oncogene Proteins B-raf
EC 2.7.11.1
dabrafenib
QGP4HA4G1B
Types de publication
Case Reports
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : NCI NIH HHS
ID : R01 CA217206
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR000043
Pays : United States
Organisme : Howard Hughes Medical Institute
Pays : United States
Informations de copyright
© 2019 Wrzeszczynski et al.; Published by Cold Spring Harbor Laboratory Press.
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