[Paper-level Aggregated] PMCID: PMC6938308

Evidence Type(s): Oncogenic

Summary: Mutation: p.12G | Summary: The somatic mutation p.12G in KRAS has been linked to brain AVMs, indicating its contribution to tumor development.

Evidence Type: Oncogenic Mutation: p.600V | Summary: The somatic mutation p.600V in BRAF has been linked to brain AVMs, indicating its contribution to tumor development.

Evidence Type: Oncogenic Mutation: p.G12D | Summary: The somatic mutation p.G12D in KRAS has been identified in multiple AVM specimens, suggesting its role in tumor progression. The G12D mutation is also a somatic variant that contributes to tumor development or progression, as indicated by its presence in specimens with confirmed mutations.

Evidence Type: Oncogenic Mutation: p.G12V | Summary: The somatic mutation p.G12V in KRAS has been identified in multiple AVM specimens, suggesting its role in tumor progression. The G12V mutation is also a somatic variant that contributes to tumor development or progression, as indicated by its presence in specimens with confirmed mutations.

Evidence Type: Oncogenic Mutation: p.Q636X | Summary: The somatic mutation p.Q636X in BRAF has been linked to brain AVMs, indicating its contribution to tumor development. The Q636X mutation is also a somatic variant that contributes to tumor development or progression, as indicated by its presence in specimens with confirmed mutations.

Evidence Type: Oncogenic Mutation: p.V600E | Summary: The somatic mutation p.V600E in BRAF has been linked to brain AVMs, indicating its contribution to tumor development. The V600E mutation is also a somatic variant that contributes to tumor development or progression, as indicated by its presence in specimens with confirmed mutations.

Gene→Variant (gene-first): KRAS(3845):p.12G BRAF(673):p.600V KRAS(3845):p.G12D KRAS(3845):p.G12V BRAF(673):p.Q636X BRAF(673):p.V600E

Genes: KRAS(3845) BRAF(673)

Variants: p.12G p.600V p.G12D p.G12V p.Q636X p.V600E

[Paragraph-level] PMCID: PMC6938308 Section: ABSTRACT PassageIndex: 6

Evidence Type(s): Oncogenic

Summary: Evidence Type: Oncogenic | Mutation: G12D | Summary: The G12D mutation is a somatic variant that contributes to tumor development or progression, as indicated by its presence in specimens with confirmed mutations. Evidence Type: Oncogenic | Mutation: G12V | Summary: The G12V mutation is a somatic variant that contributes to tumor development or progression, as indicated by its presence in specimens with confirmed mutations. Evidence Type: Oncogenic | Mutation: V600E | Summary: The V600E mutation is a somatic variant that contributes to tumor development or progression, as indicated by its presence in specimens with confirmed mutations. Evidence Type: Oncogenic | Mutation: Q636X | Summary: The Q636X mutation is a somatic variant that contributes to tumor development or progression, as indicated by its presence in specimens with confirmed mutations.

Gene→Variant (gene-first): 3845:G12D 3845:G12V 673:Q636X 673:V600E

Genes: 3845 673

Variants: G12D G12V Q636X V600E

[Paragraph-level] PMCID: PMC6938308 Section: RESULTS PassageIndex: 2

Evidence Type(s): Oncogenic

Summary: Evidence Type: Oncogenic | Mutation: p.12G | Summary: The somatic mutation p.12G in KRAS has been linked to brain AVMs, indicating its contribution to tumor development. Evidence Type: Oncogenic | Mutation: p.600V | Summary: The somatic mutation p.600V in BRAF has been linked to brain AVMs, indicating its contribution to tumor development. Evidence Type: Oncogenic | Mutation: p.G12D | Summary: The somatic mutation p.G12D in KRAS has been identified in multiple AVM specimens, suggesting its role in tumor progression. Evidence Type: Oncogenic | Mutation: p.G12V | Summary: The somatic mutation p.G12V in KRAS has been identified in multiple AVM specimens, suggesting its role in tumor progression. Evidence Type: Oncogenic | Mutation: p.Q636X | Summary: The somatic mutation p.Q636X in BRAF has been linked to brain AVMs, indicating its contribution to tumor development. Evidence Type: Oncogenic | Mutation: p.V600E | Summary: The somatic mutation p.V600E in BRAF has been linked to brain AVMs, indicating its contribution to tumor development.

Gene→Variant (gene-first): 3845:p.12G 673:p.600V 3845:p.G12D 3845:p.G12V 673:p.Q636X 673:p.V600E

Genes: 3845 673

Variants: p.12G p.600V p.G12D p.G12V p.Q636X p.V600E

[Paper-level Aggregated] PMCID: PMC6938308

Evidence Type(s): Oncogenic, Diagnostic, Prognostic

Justification: Oncogenic: The text indicates that KRAS mutations (p.G12D and p.G12V) and BRAF mutations (p.V600E and p.Q636X) are linked to brain AVMs, suggesting these variants contribute to disease development. Diagnostic: The detection of somatic mutations in AVM specimens indicates that these mutations can be used to identify the presence of the disease in patients. Prognostic: The observation that two patients with BRAF mutations presented at an older age than other participants suggests that these mutations may be associated with age-related disease characteristics.

Gene→Variant (gene-first): KRAS(3845):G12D KRAS(3845):G12V BRAF(673):Q636X BRAF(673):V600E KRAS(3845):p.12G BRAF(673):p.600V KRAS(3845):p.G12D KRAS(3845):p.G12V BRAF(673):p.Q636X BRAF(673):p.V600E

Genes: KRAS(3845) BRAF(673)

Variants: G12D G12V Q636X V600E p.12G p.600V p.G12D p.G12V p.Q636X p.V600E

[Paragraph-level] PMCID: PMC6938308 Section: ABSTRACT PassageIndex: 6

Evidence Type(s): Oncogenic, Diagnostic

Justification: Oncogenic: The passage discusses somatic mutations in KRAS and BRAF, indicating that these variants contribute to tumor development as they are detected in specimens from patients with AVM. Diagnostic: The presence of specific mutations (G12D, G12V, V600E, Q636X) is used to classify and confirm the mutation status of patients, which is relevant for understanding their disease.

Gene→Variant (gene-first): 3845:G12D 3845:G12V 673:Q636X 673:V600E

Genes: 3845 673

Variants: G12D G12V Q636X V600E

[Paragraph-level] PMCID: PMC6938308 Section: RESULTS PassageIndex: 2

Evidence Type(s): Diagnostic, Oncogenic

Justification: Diagnostic: The passage indicates that KRAS codon p.12G and BRAF codon p.600V somatic mutations have been linked to brain AVMs, suggesting their role in defining or classifying the disease. Oncogenic: The mention of likely somatic disease-causing mutations, including KRAS mutations (p.G12D and p.G12V) and BRAF mutations (p.V600E and p.Q636X), indicates that these variants contribute to tumor development or progression.

Gene→Variant (gene-first): 3845:p.12G 673:p.600V 3845:p.G12D 3845:p.G12V 673:p.Q636X 673:p.V600E

Genes: 3845 673

Variants: p.12G p.600V p.G12D p.G12V p.Q636X p.V600E

[Paragraph-level] PMCID: PMC6938308 Section: ABSTRACT PassageIndex: 6

Evidence Type(s): Oncogenic, Diagnostic

Justification: Oncogenic: The passage discusses somatic mutations in KRAS and BRAF, indicating that these variants contribute to tumor development as they are detected in specimens from patients with AVM. Diagnostic: The presence of specific mutations (G12D, G12V, V600E, Q636X) is used to classify and confirm the mutation status of patients, which is relevant for understanding their disease.

Gene→Variant (gene-first): 3845:G12D 3845:G12V 673:Q636X 673:V600E

Genes: 3845 673

Variants: G12D G12V Q636X V600E

[Paragraph-level] PMCID: PMC6938308 Section: RESULTS PassageIndex: 2

Evidence Type(s): Diagnostic, Oncogenic

Justification: Diagnostic: The passage indicates that KRAS codon p.12G and BRAF codon p.600V somatic mutations have been linked to brain AVMs, suggesting their role in defining or classifying the disease. Oncogenic: The mention of likely somatic disease-causing mutations, including KRAS mutations (p.G12D and p.G12V) and BRAF mutations (p.V600E and p.Q636X), indicates that these variants contribute to tumor development or progression.

Gene→Variant (gene-first): 3845:p.12G 673:p.600V 3845:p.G12D 3845:p.G12V 673:p.Q636X 673:p.V600E

Genes: 3845 673

Variants: p.12G p.600V p.G12D p.G12V p.Q636X p.V600E