From: Integrating cancer genomic data into electronic health records
Hierarchical levela | Example scenariob |
---|---|
1. Variant known to confer sensitivity to an FDA-approved agent for the cancer subtype | 1. BRAF p.V600E mutation 2. Vemurafenib 3. Melanoma |
2. Variant predicted to confer sensitivity to an FDA-approved agent for the cancer subtype | 1. BRAF p.V600K mutation 2. Vemurafenib 3. Melanoma |
3. Variant known to confer sensitivity to an FDA-approved agent for another cancer subtype | 1. BRAF p.V600E mutation 2. Vemurafenib 3. Hairy cell leukemia |
4. Variant predicted to confer sensitivity to an FDA-approved agent for another cancer subtype | 1. BRAF p.V600K mutation 2. Vemurafenib 3. Lung adenocarcinoma |
5. Variant known to confer sensitivity to an experimental agent for the cancer subtype | 1. BRAF p.V600E mutation 2. Binimetinib 3. Melanoma |
6. Variant known to confer sensitivity to an experimental agent for another cancer subtype | 1. BRAF p.V600E mutation 2. Binimetinib 3. Hairy cell leukemia |
7. Variant predicted to confer sensitivity to an experimental agent for the cancer subtype | 1. BRAF p.V600K mutation 2. Binimetinib 3. Melanoma |
8. Variant with known prognostic significance for the cancer subtype | 1. KMT2A rearrangement t(4;11)(q21;q23) as sole abnormality 2. B-cell ALL 3. Poor prognosis in adults |
9. Variant with predicted prognostic significance for the cancer subtype | 1. ABL1 p.M244V mutation 2. CML 3. Likely poor prognosis, faster progression to accelerated or blast phase |
10. VUS | 1. BRCA1 p.S645Y mutation 2. Triple-negative breast cancer 3. No known sensitivity or prognostic significance |