Publication
Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma.
Authors not recorded
- Source
- PubMed
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CIVIC-20260908-000001
Abstract
Abstract (excerpt)
Only the opening of the abstract is shown; abstract text may carry publisher copyright.
Data not yet available
Linked entities
Linked entities (8)
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 8
- cancerDiffuse Midline Glioma, H3 K27-Alteredcivic_curation1.00
- geneACVR1civic_curation1.00
- variantACVR1 G328Ecivic_curation1.00
- variantACVR1 G328Vcivic_curation1.00
- variantACVR1 G328Wcivic_curation1.00
- variantACVR1 G356Dcivic_curation1.00
- variantACVR1 Mutationcivic_curation1.00
- variantACVR1 R206Hcivic_curation1.00
Curated evidence
Evidence citing this paper (15)
- Source
- CIViC — Clinical Interpretation of Variants in Cancer
- Dataset
- CIViC evidence items
- Version
- civic-2026-09-08
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- expert curation
- License
- CC0 1.0
- PMID
- 24705252
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| H3-3A K28M3 | ||||||||
| (diagnostic) | Anaplastic AstrocytomaCURATED_BROADER | Diagnostic | B | Supports Positive | 2 | submitted | EID9841Taylor, et al. (2014) presented 26 diffuse midline glioma, H3 K27M-mutant (here referred to as diffuse intrinsic pontine glioma) cases (median age 6 years, median overall survival was 11 months, 20 of… (full text at CIViC) PMID 24705252 · Taylor et al., 2014 · Open in CIViC | civic |
| 〃 | Diffuse AstrocytomaCURATED_BROADER | Diagnostic | B | Supports Positive | 2 | submitted | EID9842Taylor, et al. (2014) presented 26 diffuse midline glioma, H3 K27M-mutant (here referred to as diffuse intrinsic pontine glioma) cases (median age 6 years, median overall survival was 11 months, 20 of… (full text at CIViC) PMID 24705252 · Taylor et al., 2014 · Open in CIViC | civic |
| 〃 | GlioblastomaCURATED_BROADER | Diagnostic | B | Supports Positive | 2 | submitted | EID9840Taylor, et al. (2014) presented 26 diffuse midline glioma, H3 K27M-mutant (here referred to as diffuse intrinsic pontine glioma) cases (median age 6 years, median overall survival was 11 months). Whol… (full text at CIViC) PMID 24705252 · Taylor et al., 2014 · Open in CIViC | civic |
| H3C2 K27M3 | ||||||||
| (diagnostic) | Anaplastic AstrocytomaCURATED_BROADER | Diagnostic | C | Supports Positive | 5 | submitted | EID9844Taylor, et al. (2014) presented 26 diffuse midline glioma, H3 K27M-mutant (here referred to as diffuse intrinsic pontine glioma) cases (median age 6 years, median overall survival was 11 months, 20 of… (full text at CIViC) PMID 24705252 · Taylor et al., 2014 · Open in CIViC | civic |
| 〃 | Diffuse AstrocytomaCURATED_BROADER | Diagnostic | C | Supports Positive | 3 | submitted | EID9845Taylor, et al. (2014) presented 26 diffuse midline glioma, H3 K27M-mutant (here referred to as diffuse intrinsic pontine glioma) cases (median age 6 years, median overall survival was 11 months, 20 of… (full text at CIViC) PMID 24705252 · Taylor et al., 2014 · Open in CIViC | civic |
| 〃 | GlioblastomaCURATED_BROADER | Diagnostic | C | Supports Positive | 3 | submitted | EID9843Taylor, et al. (2014) presented 26 diffuse midline glioma, H3 K27M-mutant (here referred to as diffuse intrinsic pontine glioma) cases (median age 6 years, median overall survival was 11 months, 20 of… (full text at CIViC) PMID 24705252 · Taylor et al., 2014 · Open in CIViC | civic |
| ACVR1 G328E1 | ||||||||
| (diagnostic) | Diffuse Midline Glioma, H3 K27-Altered | Diagnostic | C | Supports Positive | 3 | accepted | EID6091Sequencing (whole genome or exome) was performed on a series of 26 pediatric patients (1.7 to 13.6 years old), 7 had missense mutations in ACVR1. Two patients with G328E mutation were identified. This… (full text at CIViC) PMID 24705252 · Taylor et al., 2014 · Open in CIViC | civic |
| ACVR1 G328V2 | ||||||||
| (diagnostic) | Diffuse Midline Glioma, H3 K27-Altered | Diagnostic | C | Supports Positive | 2 | accepted | EID10011It has been reported that recurrent activating somatic mutations (R206H, R258G, G328E/V/W, G356D) in the ACVR1 gene, which encodes a type I activin receptor serine/threonine kinase, are in 21% (11/52)… (full text at CIViC) PMID 24705252 · Taylor et al., 2014 · Open in CIViC | civic |
| ALK2 Inhibitor LDN-193189 | Diffuse Midline Glioma, H3 K27-Altered | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID6092To investigate the specific role of ACVR1 mutations in the context of DIPG, a panel of four DIPG patient-derived primary cultures (and one thalamic paediatric GBM culture harbouring an H3F3A K27M muta… (full text at CIViC) PMID 24705252 · Taylor et al., 2014 · Open in CIViC | civic |
| ACVR1 G328W1 | ||||||||
| (diagnostic) | Diffuse Midline Glioma, H3 K27-Altered | Diagnostic | C | Supports Positive | 2 | accepted | EID10013It has been reported that recurrent activating somatic mutations (R206H, R258G, G328E/V/W, G356D) in the ACVR1 gene, which encodes a type I activin receptor serine/threonine kinase, are in 21% (11/52)… (full text at CIViC) PMID 24705252 · Taylor et al., 2014 · Open in CIViC | civic |
| ACVR1 G356D1 | ||||||||
| (diagnostic) | Diffuse Midline Glioma, H3 K27-Altered | Diagnostic | C | Supports Positive | 2 | accepted | EID10015It has been reported that recurrent activating somatic mutations (R206H, R258G, G328E/V/W, G356D) in the ACVR1 gene, which encodes a type I activin receptor serine/threonine kinase, are in 21% (11/52)… (full text at CIViC) PMID 24705252 · Taylor et al., 2014 · Open in CIViC | civic |
| ACVR1 Mutation2 | ||||||||
| (diagnostic) | Diffuse Midline Glioma, H3 K27-Altered | Diagnostic | B | Supports Positive | 3 | accepted | EID10014It has been reported that recurrent activating somatic mutations (R206H, R258G, G328E/V/W, G356D) in the ACVR1 gene, which encodes a type I activin receptor serine/threonine kinase, are in 21% (11/52)… (full text at CIViC) PMID 24705252 · Taylor et al., 2014 · Open in CIViC | civic |
| (prognostic) | Diffuse Midline Glioma, H3 K27-Altered | Prognostic | B | Supports Better Outcome | 3 | submitted | EID10020It has been reported that recurrent activating somatic mutations (R206H, R258G, G328E/V/W, G356D) in the ACVR1 gene, which encodes a type I activin receptor serine/threonine kinase, are in 21% (11/52)… (full text at CIViC) PMID 24705252 · Taylor et al., 2014 · Open in CIViC | civic |
| ACVR1 R206H1 | ||||||||
| (diagnostic) | Diffuse Midline Glioma, H3 K27-Altered | Diagnostic | C | Supports Positive | 2 | accepted | EID10012It has been reported that recurrent activating somatic mutations (R206H, R258G, G328E/V/W, G356D) in the ACVR1 gene, which encodes a type I activin receptor serine/threonine kinase, are in 21% (11/52)… (full text at CIViC) PMID 24705252 · Taylor et al., 2014 · Open in CIViC | civic |
| ACVR1 R258G1 | ||||||||
| (diagnostic) | Diffuse Midline Glioma, H3 K27-Altered | Diagnostic | C | Supports Positive | 3 | submitted | EID6077It has been reported that recurrent activating somatic mutations (R206H, R258G, G328E/V/W, G356D) in the ACVR1 gene, which encodes a type I activin receptor serine/threonine kinase, are in 21% (11/52)… (full text at CIViC) PMID 24705252 · Taylor et al., 2014 · Open in CIViC | civic |