- NCIt
- C7572
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Variants & evidence
2 evidence items mapped to this entity or its descendants, grouped by molecular profile, then therapy. 50 items per page.
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| HBB E6V1 | ||||||||
| (predisposing) | SMARCB1-Deficient Kidney Medullary CarcinomaALIAS | Predisposing | B | Supports Predisposition | 2 | submitted | EID11166In a retrospective analysis of 20 patients with renal medullary carcinoma, all patients were found to have sickle cell trait (a condition due to a germline mutation in hemoglobin B known as HBB E6V), … (full text at CIViC) PMID 30980040 · Jia et al., 2019 · Open in CIViC | civic |
| SMARCB1 Loss1 | ||||||||
| (diagnostic) | SMARCB1-Deficient Kidney Medullary CarcinomaALIAS | Diagnostic | B | Supports Positive | 2 | accepted | EID11168In a retrospective analysis of 23 renal medullary carcinoma patients with tumor sample available for IHC staining, all exhibited a loss of SMARCB1 expression. Of 10 tumors analyzed by FISH, SMARCB1 g… (full text at CIViC) PMID 28558987 · Carlo et al., 2017 · Open in CIViC | civic |
Data updated 21 minutes agoSource updated unknownsource: civic (CC0)
Evidence levels, directions and ratings are those assigned by CIViC curators. "Submitted" items have not completed curation review. This is not treatment guidance.