[Paper-level Aggregated] PMCID: PMC3266695

Evidence Type(s): Oncogenic, Predictive, Functional

Justification: Oncogenic: The text discusses the presence of the BRAF(V600E) mutation in melanomas and its role in promoting tumor growth, indicating its oncogenic potential. Predictive: The evidence suggests that the presence of BRAF(V600E) is predictive of response to RAF inhibitors, as these drugs have remarkable clinical activity in patients with this specific mutation. Functional: The text describes the functional consequences of the BRAF(V600E) mutation, including its role in dimerization and resistance to RAF inhibitors, demonstrating its functional impact on ERK signaling.

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

Genes: BRAF(673)

Variants: V600E

[Paragraph-level] PMCID: PMC3266695 Section: ABSTRACT PassageIndex: 2

Evidence Type(s): Predictive, Oncogenic

Justification: Predictive: The passage discusses how the presence of the BRAF(V600E) variant correlates with the clinical activity of RAF inhibitors in melanoma patients, indicating a relationship between the variant and treatment response. Oncogenic: The BRAF(V600E) variant is described as contributing to tumor development and progression, particularly in the context of its role in ERK signaling and the development of resistance mechanisms in melanoma.

Gene→Variant (gene-first): 673:V600E

Genes: 673

Variants: V600E