Publication

Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma.

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Nat Genet2013PMID 23817572PMC3951336stubpubmedPublished

Abstract

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Linked entities

Linked entities (6)

How each link was made (MeSH, dictionary, registry reference, curation…) and whether it has been validated. Candidate links are not counted in entity statistics.

Validated 6

cancerPilocytic Astrocytomacbioportal_study1.00
cancerPilocytic Astrocytomacivic_curation1.00
geneBRAFcivic_curation1.00
geneNTRK2civic_curation1.00
variantBRAF Fusioncivic_curation1.00
variantNTRK2 Fusioncivic_curation1.00

Curated evidence

Evidence citing this paper (7)

civicCuratedShowing 1–7 of 7 evidence items · levels, directions and significance as curated at the source; each row links to its CIViC record.

Therapy	Cancer	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
BRAF Mutation + BRAF Fusion1
(diagnostic)	Pilocytic Astrocytoma	Diagnostic	C	Supports Positive	3	submitted	EID7149 Genetic alterations in 96 patients with pilocytic astrocytoma (PA) were evaluated. In addition to KIAA1549-BRAF fusions, other BRAF mutations and fusions were identified. Known MAPK activating events… (full text at CIViC) PMID 23817572 · Jones et al., 2013 · Open in CIViC	civic
FGFR1 Mutation1
(diagnostic)	Pilocytic Astrocytoma	Diagnostic	C	Supports Positive	3	submitted	EID7152 Two new recurrent alterations within the kinase domain of FGFR1 in Pilocytic Astrocytoma (PA) were identified. The p.Asn546Lys variant (3 of 96 samples) had been shown in another study to increase kin… (full text at CIViC) PMID 23817572 · Jones et al., 2013 · Open in CIViC	civic
BRAF Fusion1
(diagnostic)	Pilocytic Astrocytoma	Diagnostic	B	Supports Positive	5	accepted	EID7148 Genetic alterations in pilocytic astrocytoma (PA) were evaluated. Whole-genome sequencing of normal (blood) and tumor samples (n=96) was performed along with corresponding RNA-Seq (n=73) and mate-pair… (full text at CIViC) PMID 23817572 · Jones et al., 2013 · Open in CIViC	civic
KRAS Mutation1
(diagnostic)	Pilocytic Astrocytoma	Diagnostic	C	Supports Positive	3	submitted	EID7150 Genetic alterations in 96 patients with pilocytic astrocytoma (PA) were evaluated. Two new alterations with double KRAS mutations (p.[Glu63Lys]+[Arg73Met] and p.[Leu19Phe]+[Gln22Lys] ) were observed. PMID 23817572 · Jones et al., 2013 · Open in CIViC	civic
PTPN11 Mutation1
(diagnostic)	Pilocytic Astrocytoma	Diagnostic	C	Supports Positive	3	submitted	EID7153 Genetic alterations in pilocytic astrocytoma (PA) were evaluated. Two alterations were found in the PTPN11 (aka SHP-2) gene, encoding a RAS-MAPK-related adaptor protein and phosphatase. Both alteratio… (full text at CIViC) PMID 23817572 · Jones et al., 2013 · Open in CIViC	civic
NTRK2 Fusion1
(oncogenic)	Pilocytic Astrocytoma	Oncogenic	C	Supports Oncogenicity	1	accepted	EID11449 Whole genome sequencing of 96 pilocytic astrocytomas by the International Cancer Genome Consortium (ICGC) PedBrain Tumor Project identified QKI::NTRK2 (e6::e16) fusions in 2 cases (5 yo & 12 yo males)… (full text at CIViC) PMID 23817572 · Jones et al., 2013 · Open in CIViC	civic
NTRK2 Fusion1
(diagnostic)	Pilocytic Astrocytoma	Diagnostic	C	Supports Positive	3	submitted	EID7151 Genetic alterations in pilocytic astrocytoma (PA) were evaluated. Two new NTRK2 fusion events were identified in this study. These two NTRK2 fusion events, namely QKI-NTRK2 (2 of 96 samples) and NACC2… (full text at CIViC) PMID 23817572 · Jones et al., 2013 · Open in CIViC	civic