[Paper-level Aggregated] PMCID: PMC3288377

Evidence Type(s): Oncogenic

Summary: Mutation: p.K27M | Summary: The p.K27M mutation in H3F3A is identified as a somatic mutation that contributes to tumor development in paediatric diffuse intrinsic pontine gliomas (DIPGs).

Evidence Type: Oncogenic Mutation: p.G34R | Summary: The p.G34R mutation in H3F3A is identified as a somatic mutation that contributes to tumor development in non-brainstem paediatric glioblastomas (non-BS-PGs).

Gene→Variant (gene-first): H3-3B(3021):p.K27M H3-3B(3021):p.G34R

Genes: H3-3B(3021)

Variants: p.K27M p.G34R

[Paragraph-level] PMCID: PMC3288377 Section: ABSTRACT PassageIndex: 1

Evidence Type(s): Oncogenic

Summary: Evidence Type: Oncogenic | Mutation: p.K27M | Summary: The p.K27M mutation in H3F3A is identified as a somatic mutation that contributes to tumor development in paediatric diffuse intrinsic pontine gliomas (DIPGs). Evidence Type: Oncogenic | Mutation: p.G34R | Summary: The p.G34R mutation in H3F3A is identified as a somatic mutation that contributes to tumor development in non-brainstem paediatric glioblastomas (non-BS-PGs).

Gene→Variant (gene-first): 3021:p.G34R 3021:p.K27M

Genes: 3021

Variants: p.G34R p.K27M

[Paper-level Aggregated] PMCID: PMC3288377

Evidence Type(s): Oncogenic, Predictive

Justification: Oncogenic: The text indicates that the p.K27M mutation is present in a significant percentage of DIPGs, suggesting its role in tumorigenesis. Additionally, the presence of p.G34R mutations in non-BS-PGs further supports their potential oncogenic nature. Predictive: The identification of specific mutations such as p.K27M and p.G34R in DIPGs and non-BS-PGs may help predict the behavior of these tumors and their response to targeted therapies.

Gene→Variant (gene-first): H3-3B(3021):p.G34R H3-3B(3021):p.K27M

Genes: H3-3B(3021)

Variants: p.G34R p.K27M

[Paragraph-level] PMCID: PMC3288377 Section: ABSTRACT PassageIndex: 1

Evidence Type(s): Diagnostic, Oncogenic

Justification: Diagnostic: The passage discusses the frequency of the p.K27M mutation in DIPGs and its association with this specific subtype of brain tumors, indicating its role in defining or classifying the disease. Oncogenic: The p.K27M and p.G34R mutations are described as somatic mutations found in pediatric gliomas, suggesting their contribution to tumor development or progression.

Gene→Variant (gene-first): 3021:p.G34R 3021:p.K27M

Genes: 3021

Variants: p.G34R p.K27M

[Paragraph-level] PMCID: PMC3288377 Section: ABSTRACT PassageIndex: 1

Evidence Type(s): Diagnostic, Oncogenic

Justification: Diagnostic: The passage discusses the frequency of the p.K27M mutation in DIPGs and its association with this specific subtype of brain tumors, indicating its role in defining or classifying the disease. Oncogenic: The p.K27M and p.G34R mutations are described as somatic mutations found in pediatric gliomas, suggesting their contribution to tumor development or progression.

Gene→Variant (gene-first): 3021:p.G34R 3021:p.K27M

Genes: 3021

Variants: p.G34R p.K27M