Publication

Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma.

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Nat Genet2014PMID 24705250PMC4282994stubpubmedPublished

Abstract

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Linked entities

Linked entities (4)

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 4

cancerAnaplastic Astrocytomacivic_curation1.00
cancerDiffuse Midline Glioma, H3 K27-Alteredcivic_curation1.00
geneACVR1civic_curation1.00
variantACVR1 Gain-of-Functioncivic_curation1.00

Curated evidence

Evidence citing this paper (2)

civicCuratedShowing 1–2 of 2 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
ACVR1 Gain-of-Function2
(diagnostic)	Anaplastic AstrocytomaALIAS	Diagnostic	B	Supports Positive	3	accepted	EID4845 The authors used whole exome sequencing on 39 midline pediatric high-grade astrocytomas (pHGAs) and identified 5 with mutations in ACVR1, with 2 occurring at G328 (G328V and G328E). The authors state … (full text at CIViC) PMID 24705250 · Fontebasso et al., 2014 · Open in CIViC	civic
〃	Diffuse Midline Glioma, H3 K27-Altered	Diagnostic	B	Supports Positive	3	accepted	EID4846 Sequencing of 39 pediatric midline high-grade astrocytomas identified 5 patients with ACVR1 mutations. The authors identified an increase in endogenous phospho-SMAD1/5/8 signal in diffuse intrinsic po… (full text at CIViC) PMID 24705250 · Fontebasso et al., 2014 · Open in CIViC	civic