[Paper-level Aggregated] PMCID: PMC5122709

Evidence Type(s): Oncogenic

Summary: Mutation: V600E | Summary: The BRAF V600E mutation is known to contribute to tumor development and progression in melanoma, classifying it as an oncogenic variant.

Evidence Type: Oncogenic Mutation: BRAFV600E | Summary: The BRAFV600E mutation contributes to tumor development in metastatic melanoma, supporting its classification as an oncogenic variant.

Gene→Variant (gene-first): BRAF(673):V600E NA:BRAFV600E

Genes: BRAF(673) NA

Variants: V600E BRAFV600E

[Paper-level Aggregated] PMCID: PMC5122709

Evidence Type(s): Diagnostic

Summary: Mutation: V600E | Summary: The presence of the BRAF V600E mutation is used to confirm the diagnosis of melanoma, serving as a diagnostic marker for the disease.

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

Genes: BRAF(673)

Variants: V600E

[Paper-level Aggregated] PMCID: PMC5122709

Evidence Type(s): Predictive

Summary: Mutation: V600E | Summary: The BRAF V600E mutation is associated with treatment response to BRAF inhibitors, indicating its predictive value for therapy outcomes in melanoma patients.

Evidence Type: Predictive Mutation: BRAFV600E | Summary: The BRAFV600E mutation is associated with response to BRAF inhibitors, indicating its predictive value for treatment outcomes in metastatic melanoma.

Gene→Variant (gene-first): BRAF(673):V600E NA:BRAFV600E

Genes: BRAF(673) NA

Variants: V600E BRAFV600E

[Paragraph-level] PMCID: PMC5122709 Section: ABSTRACT PassageIndex: 1

Evidence Type(s): Predictive, Oncogenic

Summary: Evidence Type: Predictive | Mutation: BRAFV600E | Summary: The BRAFV600E mutation is associated with response to BRAF inhibitors, indicating its predictive value for treatment outcomes in metastatic melanoma. Evidence Type: Oncogenic | Mutation: BRAFV600E | Summary: The BRAFV600E mutation contributes to tumor development in metastatic melanoma, supporting its classification as an oncogenic variant.

Gene→Variant (gene-first): 673:V600

Genes: 673

Variants: V600

[Paragraph-level] PMCID: PMC5122709 Section: RESULTS PassageIndex: 3

Evidence Type(s): Predictive, Diagnostic, Oncogenic

Summary: Evidence Type: Predictive | Mutation: V600E | Summary: The BRAF V600E mutation is associated with treatment response to BRAF inhibitors, indicating its predictive value for therapy outcomes in melanoma patients. Evidence Type: Diagnostic | Mutation: V600E | Summary: The presence of the BRAF V600E mutation is used to confirm the diagnosis of melanoma, serving as a diagnostic marker for the disease. Evidence Type: Oncogenic | Mutation: V600E | Summary: The BRAF V600E mutation is known to contribute to tumor development and progression in melanoma, classifying it as an oncogenic variant.

Gene→Variant (gene-first): 673:V600E

Genes: 673

Variants: V600E

[Paper-level Aggregated] PMCID: PMC5122709

Evidence Type(s): Predictive, Oncogenic

Justification: Predictive: The text indicates that BRAF inhibitors are the standard treatment for metastatic melanoma with BRAF V600 mutations, suggesting that the presence of the V600E mutation can predict the effectiveness of this treatment. Oncogenic: The mention of all patients testing positive for the BRAF V600E mutation implies that this variant is associated with the development of melanoma, indicating its oncogenic potential.

Gene→Variant (gene-first): BRAF(673):V600 BRAF(673):V600E

Genes: BRAF(673)

Variants: V600 V600E

[Paragraph-level] PMCID: PMC5122709 Section: ABSTRACT PassageIndex: 1

Evidence Type(s): Predictive, Diagnostic

Justification: Predictive: The passage discusses the effectiveness of BRAF inhibitors in patients with metastatic melanoma harboring BRAF V600 mutations, indicating a correlation with treatment response. Diagnostic: The BRAF V600 mutation is used to define and classify patients with metastatic melanoma, as all patients in the study had BRAFV600E mutations.

Gene→Variant (gene-first): 673:V600

Genes: 673

Variants: V600

[Paragraph-level] PMCID: PMC5122709 Section: RESULTS PassageIndex: 3

Evidence Type(s): Predictive, Diagnostic, Oncogenic

Justification: Predictive: The passage discusses patients treated with BRAF inhibitors, specifically mentioning the BRAF V600E mutation, which correlates with response to these therapies. Diagnostic: The passage states that all patients tested positive for the BRAF V600E mutation, indicating its use in defining or confirming the presence of a specific subtype of melanoma. Oncogenic: The BRAF V600E mutation is implicated in the development of melanoma, suggesting its role as a somatic variant contributing to tumor progression.

Gene→Variant (gene-first): 673:V600E

Genes: 673

Variants: V600E

[Paragraph-level] PMCID: PMC5122709 Section: ABSTRACT PassageIndex: 1

Evidence Type(s): Predictive, Diagnostic

Justification: Predictive: The passage discusses the effectiveness of BRAF inhibitors in patients with metastatic melanoma harboring BRAF V600 mutations, indicating a correlation with treatment response. Diagnostic: The BRAF V600 mutation is used to define and classify patients with metastatic melanoma, as all patients in the study had BRAFV600E mutations.

Gene→Variant (gene-first): 673:V600

Genes: 673

Variants: V600

[Paragraph-level] PMCID: PMC5122709 Section: RESULTS PassageIndex: 3

Evidence Type(s): Predictive, Diagnostic, Oncogenic

Justification: Predictive: The passage discusses patients treated with BRAF inhibitors, specifically mentioning the BRAF V600E mutation, which correlates with response to these therapies. Diagnostic: The passage states that all patients tested positive for the BRAF V600E mutation, indicating its use in defining or confirming the presence of a specific subtype of melanoma. Oncogenic: The BRAF V600E mutation is implicated in the development of melanoma, suggesting its role as a somatic variant contributing to tumor progression.

Gene→Variant (gene-first): 673:V600E

Genes: 673

Variants: V600E