[Paper-level Aggregated] PMCID: PMC9468105

Evidence Type(s): Oncogenic

Summary: Mutation: c.4110 + 2 T > G | Summary: The c.4110 + 2 T > G splice site mutation contributes to the somatic inactivation of the remaining wild-type NF1 allele, indicating its role in tumor development.

Evidence Type: Oncogenic Mutation: p.V600E | Summary: The BRAF p.V600E mutation is associated with pleomorphic xanthoastrocytoma, indicating its role in tumor development or progression.

Gene→Variant (gene-first): NF1(4763):c.4110 + 2 T > G BRAF(673):p.V600E

Genes: NF1(4763) BRAF(673)

Variants: c.4110 + 2 T > G p.V600E

[Paper-level Aggregated] PMCID: PMC9468105

Evidence Type(s): Predisposing

Summary: Mutation: p.R1276 | Summary: The p.R1276 mutation is described as a germline mutation associated with an autosomal dominant tumor predisposition syndrome, indicating it confers inherited risk for disease.

Evidence Type: Predisposing

Gene→Variant (gene-first): NF1(4763):p.R1276*

Genes: NF1(4763)

Variants: p.R1276*

[Paper-level Aggregated] PMCID: PMC9468105

Evidence Type(s): Prognostic

Summary: Mutation: p.V600E | Summary: Kaplan-Meier survival analysis suggests that patients with NF1-associated gliomas, including those with the p.V600E mutation, have inferior outcomes compared to other groups.

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

Genes: BRAF(673)

Variants: p.V600E

[Paragraph-level] PMCID: PMC9468105 Section: RESULTS PassageIndex: 14

Evidence Type(s): Oncogenic, Prognostic

Summary: Evidence Type: Oncogenic | Mutation: p.V600E | Summary: The BRAF p.V600E mutation is associated with pleomorphic xanthoastrocytoma, indicating its role in tumor development or progression. Evidence Type: Prognostic | Mutation: p.V600E | Summary: Kaplan-Meier survival analysis suggests that patients with NF1-associated gliomas, including those with the p.V600E mutation, have inferior outcomes compared to other groups.

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

Genes: 673

Variants: p.V600E

[Paragraph-level] PMCID: PMC9468105 Section: RESULTS PassageIndex: 4

Evidence Type(s): Predisposing, Oncogenic

Summary: Evidence Type: Predisposing | Mutation: p.R1276 | Summary: The p.R1276 mutation is described as a germline mutation associated with an autosomal dominant tumor predisposition syndrome, indicating it confers inherited risk for disease. Evidence Type: Oncogenic | Mutation: c.4110 + 2 T > G | Summary: The c.4110 + 2 T > G splice site mutation contributes to the somatic inactivation of the remaining wild-type NF1 allele, indicating its role in tumor development.

Gene→Variant (gene-first): 4763:c.4110 + 2 T > G 4763:p.R1276*

Genes: 4763

Variants: c.4110 + 2 T > G p.R1276*

[Paper-level Aggregated] PMCID: PMC9468105

Evidence Type(s): Predisposing, Oncogenic, Prognostic

Justification: Predisposing: The text describes gliomas arising in patients with a heterozygous germline mutation in NF1, indicating a genetic predisposition to tumor development. Oncogenic: The presence of somatic mutations and inactivation of the wild-type NF1 allele, along with the mention of specific mutations like p.R1276* and c.4110 + 2 T > G, supports the role of these variants in tumorigenesis. Prognostic: Kaplan-Meier survival analysis indicates that patients with NF1-associated gliomas have inferior outcomes, suggesting that the genetic alterations may have prognostic implications for patient survival.

Gene→Variant (gene-first): NF1(4763):c.4110 + 2 T > G NF1(4763):p.R1276* BRAF(673):p.V600E

Genes: NF1(4763) BRAF(673)

Variants: c.4110 + 2 T > G p.R1276* p.V600E

[Paragraph-level] PMCID: PMC9468105 Section: RESULTS PassageIndex: 14

Evidence Type(s): Diagnostic, Prognostic

Justification: Diagnostic: The passage discusses the association of the BRAF p.V600E mutation with pleomorphic xanthoastrocytoma, indicating its role in defining or classifying this specific tumor type. Prognostic: The Kaplan-Meier survival analysis mentioned in the passage indicates that patients with NF1-associated gliomas have inferior outcomes, suggesting a correlation between the presence of certain mutations and disease prognosis.

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

Genes: 673

Variants: p.V600E

[Paragraph-level] PMCID: PMC9468105 Section: RESULTS PassageIndex: 4

Evidence Type(s): Predisposing, Oncogenic

Justification: Predisposing: The passage describes a germline mutation (p.R1276*) associated with an autosomal dominant tumor predisposition syndrome, indicating inherited risk for developing gliomas. Oncogenic: The passage discusses the somatic inactivation of the remaining wild-type NF1 allele, which contributes to tumor development in gliomas, indicating that the variant plays a role in oncogenesis.

Gene→Variant (gene-first): 4763:c.4110 + 2 T > G 4763:p.R1276*

Genes: 4763

Variants: c.4110 + 2 T > G p.R1276*

[Paragraph-level] PMCID: PMC9468105 Section: RESULTS PassageIndex: 14

Evidence Type(s): Diagnostic, Prognostic

Justification: Diagnostic: The passage discusses the association of the BRAF p.V600E mutation with pleomorphic xanthoastrocytoma, indicating its role in defining or classifying this specific tumor type. Prognostic: The Kaplan-Meier survival analysis mentioned in the passage indicates that patients with NF1-associated gliomas have inferior outcomes, suggesting a correlation between the presence of certain mutations and disease prognosis.

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

Genes: 673

Variants: p.V600E

[Paragraph-level] PMCID: PMC9468105 Section: RESULTS PassageIndex: 4

Evidence Type(s): Predisposing, Oncogenic

Justification: Predisposing: The passage describes a germline mutation (p.R1276*) associated with an autosomal dominant tumor predisposition syndrome, indicating inherited risk for developing gliomas. Oncogenic: The passage discusses the somatic inactivation of the remaining wild-type NF1 allele, which contributes to tumor development in gliomas, indicating that the variant plays a role in oncogenesis.

Gene→Variant (gene-first): 4763:c.4110 + 2 T > G 4763:p.R1276*

Genes: 4763

Variants: c.4110 + 2 T > G p.R1276*