Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations
[Paper-level Aggregated] PMCID: PMC3997489
Evidence Type(s): Oncogenic
Summary: Mutation: K27M | Summary: The K27M mutation is associated with the development and progression of Diffuse Intrinsic Pontine Glioma (DIPG), contributing to the tumor's oncogenic characteristics.
Gene→Variant (gene-first): H3-3B(3021):K27M
Genes: H3-3B(3021)
Variants: K27M
Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations
[Paper-level Aggregated] PMCID: PMC3997489
Evidence Type(s): Diagnostic
Summary: Mutation: K27M | Summary: The presence of the K27M mutation is used to classify and define the molecular subgroup of Diffuse Intrinsic Pontine Glioma (DIPG), aiding in the understanding of its genetic drivers.
Gene→Variant (gene-first): H3-3B(3021):K27M
Genes: H3-3B(3021)
Variants: K27M
Diffuse Intrinsic Pontine Glioma (DIPG) is a fatal brain cancer that arises in the brainstem of children with no effective treatment and near 100% fatality. The failure of most therapies can be attributed to the delicate
[Paragraph-level] PMCID: PMC3997489 Section: ABSTRACT PassageIndex: 1
Evidence Type(s): Oncogenic, Diagnostic
Summary: Evidence Type: Oncogenic | Mutation: K27M | Summary: The K27M mutation is associated with the development and progression of Diffuse Intrinsic Pontine Glioma (DIPG), contributing to the tumor's oncogenic characteristics. Evidence Type: Diagnostic | Mutation: K27M | Summary: The presence of the K27M mutation is used to classify and define the molecular subgroup of DIPG, aiding in the understanding of its genetic drivers.
Gene→Variant (gene-first): 3021:K27M
Genes: 3021
Variants: K27M
Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations
[Paper-level Aggregated] PMCID: PMC3997489
Evidence Type(s): Oncogenic, Prognostic
Justification: Oncogenic: The text indicates that nearly 80% of DIPGs harbor a K27M mutation, suggesting that this variant is associated with the disease and contributes to its oncogenic properties. Prognostic: The identification of distinct molecular subgroups, including those with the K27M mutation, implies that this variant may have implications for disease progression and patient outcomes in DIPG.
Gene→Variant (gene-first): H3-3B(3021):K27M
Genes: H3-3B(3021)
Variants: K27M
Diffuse Intrinsic Pontine Glioma (DIPG) is a fatal brain cancer that arises in the brainstem of children with no effective treatment and near 100% fatality. The failure of most therapies can be attributed to the delicate
[Paragraph-level] PMCID: PMC3997489 Section: ABSTRACT PassageIndex: 1
Evidence Type(s): Diagnostic, Oncogenic
Justification: Diagnostic: The passage discusses the prevalence of the K27M mutation in DIPG, indicating its association with this specific disease, which supports its use as a biomarker for classification. Oncogenic: The K27M mutation is described as part of the unique genetic make-up of DIPG, suggesting its contribution to tumor development or progression in this specific cancer type.
Gene→Variant (gene-first): 3021:K27M
Genes: 3021
Variants: K27M