ACVR1 — gene · CancerIndex

Curated evidence

Clinical evidence (16)

CIViC items involving this gene, grouped by molecular profile and therapy, with native levels and directions. 50 items per page.

civicCuratedShowing 1–16 of 16 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 G328E1
(diagnostic)	Diffuse Midline Glioma, H3 K27-Altered	Diagnostic	C	Supports Positive	3	accepted	EID6091 Sequencing (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 G328V4
(diagnostic)	Diffuse Midline Glioma, H3 K27-Altered	Diagnostic	B	Supports Positive	3	accepted	EID6955 In a study sequencing 61 patients (median age 6.3) with diffuse intrinsic pontine glioma (DIPG), 12 variants affecting ACVR1 were observed. Five patients had G328V within the kinase domain. The ACVR1 … (full text at CIViC) PMID ·

Cohorts

Alteration frequency by cohort (29)

Frequency = cases affected / cases profiled within one cohort. Cohorts are never pooled.

cbioportalObserved29 cohort rows · frequency = affected / profiled, as published by each cohort; cohorts are not pooled. Hover a row badge for its release.

Cohort	Mapped cancer	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Rank in cohort	Source
Colorectal Cancer (MSK, Cancer Discovery 2022) coadread_mskresistance_2022	Colorectal Adenocarcinoma	Ssm	7

Literature

Linked publications (3)

25 per page, newest first.

pubmedPublishedShowing 1–3 of 3 publications · bibliographic data as recorded by PubMed; abstracts are not reproduced.

Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma.
· Nat Genet · 2014 · PMID 24705250 · validated civic_curation pubmed
Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations.
· Nat Genet · 2014 · PMID 24705254 · validated civic_curation pubmed
Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma.
· Nat Genet · 2014 · PMID 24705252 · validated civic_curation pubmed

ACVR1 Mutation4
(diagnostic)	Diffuse Midline Glioma, H3 K27-Altered	Diagnostic	B	Supports Positive	3	submitted	EID8014 Analysis of 127 paediatric high grade gliomas (HGGs) identified recurrent mutations in ACVR1 exclusively in DIPG. ACVR1 mutations were found in 18 of 57 DIPG tumours (32%) and none of 70 non-brainstem… (full text at CIViC) PMID 24705251 · Wu et al., 2014 · Open in CIViC	civic
〃	Diffuse Midline Glioma, H3 K27-Altered	Diagnostic	B	Supports Positive	3	accepted	EID10014 It 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	EID10020 It 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	EID10141 Eight ALK2 inhibitors were tested against 3 ACVR1 mutant cell cultures and two wild type cultures. LDN-193189 was the most potent compound with minimal selectivity for the mutant cells. LDN-214117 was… (full text at CIViC) PMID 31098401 · Carvalho et al., 2019 · Open in CIViC	civic

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