[Paper-level Aggregated] PMCID: PMC3727232

Evidence Type(s): Functional

Summary: Mutation: p.V676fs | Summary: The CIC mutation p.V676fs alters molecular or biochemical function, contributing to the tumor's genetic profile.

Evidence Type: Functional Mutation: p.S726R | Summary: The CIC mutation p.S726R alters molecular or biochemical function, contributing to the tumor's genetic profile.

Evidence Type: Functional Mutation: p.D1722V | Summary: The CHD2 mutation p.D1722V alters molecular or biochemical function, contributing to the tumor's genetic profile.

Evidence Type: Functional Mutation: p.P101L | Summary: The STYK1 mutation p.P101L alters molecular or biochemical function, contributing to the tumor's genetic profile.

Gene→Variant (gene-first): CIC(23152):p.V676fs CIC(23152):p.S726R CHD2(1106):p.D1722V CDKN2A(1029):p.P101L

Genes: CIC(23152) CHD2(1106) CDKN2A(1029)

Variants: p.V676fs p.S726R p.D1722V p.P101L

[Paper-level Aggregated] PMCID: PMC3727232

Evidence Type(s): Oncogenic

Summary: Mutation: p.K27M | Summary: The H3F3A:p.K27M mutation is associated with tumor development in supratentorial diffuse astrocytomas and certain gliomas, indicating its role as a somatic variant contributing to oncogenesis.

Evidence Type: Oncogenic Mutation: p.V600E | Summary: The BRAF:p.V600E mutation is frequently observed in pleomorphic xanthoastrocytomas and other gliomas, suggesting its contribution to tumor development and progression as a somatic variant.

Evidence Type: Oncogenic Mutation: p.R132H | Summary: The IDH1 mutation p.R132H is associated with tumor development or progression in the context of oligodendroglioma.

Gene→Variant (gene-first): H3-3B(3021):p.K27M BRAF(673):p.V600E IDH1(3417):p.R132H

Genes: H3-3B(3021) BRAF(673) IDH1(3417)

Variants: p.K27M p.V600E p.R132H

[Paragraph-level] PMCID: PMC3727232 Section: RESULTS PassageIndex: 11

Evidence Type(s): Oncogenic

Summary: Evidence Type: Oncogenic | Mutation: p.K27M | Summary: The H3F3A:p.K27M mutation is associated with tumor development in certain gliomas, indicating its role as a cancer-driving variant. Evidence Type: Oncogenic | Mutation: p.V600E | Summary: The BRAF:p.V600E mutation is frequently detected in pleomorphic xanthoastrocytomas and other gliomas, contributing to tumor progression.

Gene→Variant (gene-first): 3021:p.K27M 673:p.V600E

Genes: 3021 673

Variants: p.K27M p.V600E

[Paragraph-level] PMCID: PMC3727232 Section: RESULTS PassageIndex: 6

Evidence Type(s): Oncogenic, Functional

Summary: Evidence Type: Oncogenic | Mutation: p.R132H | Summary: The IDH1 mutation p.R132H is associated with tumor development or progression in the context of oligodendroglioma. Evidence Type: Functional | Mutation: p.V676fs | Summary: The CIC mutation p.V676fs alters molecular or biochemical function, contributing to the tumor's genetic profile. Evidence Type: Functional | Mutation: p.S726R | Summary: The CIC mutation p.S726R alters molecular or biochemical function, contributing to the tumor's genetic profile. Evidence Type: Functional | Mutation: p.D1722V | Summary: The CHD2 mutation p.D1722V alters molecular or biochemical function, contributing to the tumor's genetic profile. Evidence Type: Functional | Mutation: p.P101L | Summary: The STYK1 mutation p.P101L alters molecular or biochemical function, contributing to the tumor's genetic profile.

Gene→Variant (gene-first): 1106:p.D1722V 1029:p.P101L 3417:p.R132H 23152:p.S726R 23152:p.V676fs

Genes: 1106 1029 3417 23152

Variants: p.D1722V p.P101L p.R132H p.S726R p.V676fs

[Paragraph-level] PMCID: PMC3727232 Section: RESULTS PassageIndex: 5

Evidence Type(s): Oncogenic

Summary: Evidence Type: Oncogenic | Mutation: p.K27M | Summary: The H3F3A:p.K27M mutation is associated with tumor development in supratentorial diffuse astrocytomas, indicating its role as a somatic variant contributing to oncogenesis. Evidence Type: Oncogenic | Mutation: p.V600E | Summary: The BRAF:p.V600E mutation is frequently observed in pleomorphic xanthoastrocytomas, suggesting its contribution to tumor development and progression as a somatic variant.

Gene→Variant (gene-first): 3021:p.K27M 673:p.V600E

Genes: 3021 673

Variants: p.K27M p.V600E

[Paper-level Aggregated] PMCID: PMC3727232

Evidence Type(s): Oncogenic, Predictive, Prognostic

Justification: Oncogenic: The presence of BRAF:p.V600E mutations and H3F3A:p.K27M mutations in various tumor types suggests that these variants are associated with oncogenesis, as they recur in specific histopathological subtypes and are linked to tumor development. Predictive: The identification of BRAF:p.V600E mutations in a high proportion of pleomorphic xanthoastrocytomas indicates that this variant may predict response to targeted therapies that inhibit the BRAF pathway. Prognostic: The frequency of BRAF:p.V600E mutations in different tumor types, particularly in pleomorphic xanthoastrocytomas, may provide prognostic information regarding tumor behavior and patient outcomes.

Gene→Variant (gene-first): H3-3B(3021):p.K27M BRAF(673):p.V600E

Genes: H3-3B(3021) BRAF(673)

Variants: p.K27M p.V600E

[Paragraph-level] PMCID: PMC3727232 Section: RESULTS PassageIndex: 11

Evidence Type(s): Diagnostic, Oncogenic

Justification: Diagnostic: The passage discusses the detection of BRAF:p.V600E mutations in various tumor types, indicating its association with specific tumor classifications, which supports its use as a biomarker for diagnosis. Oncogenic: The H3F3A:p.K27M mutation is described as being present in specific tumor types, indicating its contribution to tumor development or progression.

Gene→Variant (gene-first): 3021:p.K27M 673:p.V600E

Genes: 3021 673

Variants: p.K27M p.V600E

[Paragraph-level] PMCID: PMC3727232 Section: RESULTS PassageIndex: 6

Evidence Type(s): None

Justification: Not enough information in this passage.

Gene→Variant (gene-first): 1106:p.D1722V 1029:p.P101L 3417:p.R132H 23152:p.S726R 23152:p.V676fs

Genes: 1106 1029 3417 23152

Variants: p.D1722V p.P101L p.R132H p.S726R p.V676fs

[Paragraph-level] PMCID: PMC3727232 Section: RESULTS PassageIndex: 5

Evidence Type(s): Oncogenic, Diagnostic

Justification: Oncogenic: The passage discusses the H3F3A:p.K27M mutation and BRAF:p.V600E mutation as recurrent abnormalities in specific tumor types, indicating their contribution to tumor development or progression. Diagnostic: The mention of BRAF:p.V600E mutations being frequent in pleomorphic xanthoastrocytomas suggests its use in defining or classifying this subtype of tumor.

Gene→Variant (gene-first): 3021:p.K27M 673:p.V600E

Genes: 3021 673

Variants: p.K27M p.V600E

[Paragraph-level] PMCID: PMC3727232 Section: RESULTS PassageIndex: 11

Evidence Type(s): Diagnostic, Oncogenic

Justification: Diagnostic: The passage discusses the detection of BRAF:p.V600E mutations in various tumor types, indicating its association with specific tumor classifications, which supports its use as a biomarker for diagnosis. Oncogenic: The H3F3A:p.K27M mutation is described as being present in specific tumor types, indicating its contribution to tumor development or progression.

Gene→Variant (gene-first): 3021:p.K27M 673:p.V600E

Genes: 3021 673

Variants: p.K27M p.V600E

[Paragraph-level] PMCID: PMC3727232 Section: RESULTS PassageIndex: 6

Evidence Type(s): None

Justification: Not enough information in this passage.

Gene→Variant (gene-first): 1106:p.D1722V 1029:p.P101L 3417:p.R132H 23152:p.S726R 23152:p.V676fs

Genes: 1106 1029 3417 23152

Variants: p.D1722V p.P101L p.R132H p.S726R p.V676fs

[Paragraph-level] PMCID: PMC3727232 Section: RESULTS PassageIndex: 5

Evidence Type(s): Oncogenic, Diagnostic

Justification: Oncogenic: The passage discusses the H3F3A:p.K27M mutation and BRAF:p.V600E mutation as recurrent abnormalities in specific tumor types, indicating their contribution to tumor development or progression. Diagnostic: The mention of BRAF:p.V600E mutations being frequent in pleomorphic xanthoastrocytomas suggests its use in defining or classifying this subtype of tumor.

Gene→Variant (gene-first): 3021:p.K27M 673:p.V600E

Genes: 3021 673

Variants: p.K27M p.V600E