[Paper-level Aggregated] PMCID: PMC4239128

Evidence Type(s): Oncogenic, Predictive, Prognostic

Justification: Oncogenic: The presence of the BRAF p.V600E mutation is associated with the malignancy's potential vulnerability to targeted therapy, indicating its role in driving cancer progression. Predictive: The high allele frequency of the BRAF p.V600E mutation suggests that the malignancy may respond to BRAF inhibition, which was confirmed by the patient's positive response to treatment with dabrafenib and trametinib. Prognostic: The use of dual BRAF and MEK inhibition was intended to prolong survival and optimize quality of life, indicating that the presence of the BRAF mutation has implications for the patient's prognosis.

Gene→Variant (gene-first): BRAF(673):1799T > A BRAF(673):p.V600E BRAF(673):V600E

Genes: BRAF(673)

Variants: 1799T > A p.V600E V600E

[Paragraph-level] PMCID: PMC4239128 Section: ABSTRACT PassageIndex: 1

Evidence Type(s): Predictive, Oncogenic

Justification: Predictive: The passage discusses the patient's excellent response to dual therapy with dabrafenib and trametinib, indicating that the BRAF V600E mutation correlates with treatment response. Oncogenic: The BRAF V600E variant is described in the context of a poorly differentiated intrahepatic cholangiocarcinoma, suggesting its role in tumor development or progression.

Gene→Variant (gene-first): 673:V600E

Genes: 673

Variants: V600E

[Paragraph-level] PMCID: PMC4239128 Section: RESULTS PassageIndex: 2

Evidence Type(s): Predictive, Oncogenic

Justification: Predictive: The passage discusses the potential vulnerability of the malignancy to BRAF inhibition, indicating a correlation between the BRAF p.V600E mutation and response to therapy with dabrafenib and trametinib. Oncogenic: The BRAF p.V600E mutation is implicated in the malignancy's development and progression, as it is associated with the treatment approach and the observed tumor response to therapy.

Gene→Variant (gene-first): 673:1799T > A 673:p.V600E

Genes: 673

Variants: 1799T > A p.V600E

[Paragraph-level] PMCID: PMC4239128 Section: RESULTS PassageIndex: 2

Evidence Type(s): Predictive, Oncogenic

Justification: Predictive: The passage discusses the potential vulnerability of the malignancy to BRAF inhibition, indicating a correlation between the BRAF p.V600E mutation and response to therapy with dabrafenib and trametinib. Oncogenic: The BRAF p.V600E mutation is implicated in the malignancy's development and progression, as it is associated with the treatment approach and the observed tumor response to therapy.

Gene→Variant (gene-first): 673:1799T > A 673:p.V600E

Genes: 673

Variants: 1799T > A p.V600E