Publication
Distinctive mechanisms underlie the loss of SMARCB1 protein expression in renal medullary carcinoma: morphologic and molecular analysis of 20 cases.
Authors not recorded
- Source
- PubMed
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CIVIC-20260908-000001
Abstract
Abstract (excerpt)
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Linked entities
Linked entities (3)
How each link was made (MeSH, dictionary, registry reference, curation…) and whether it has been validated. Candidate links are not counted in entity statistics.
Validated 3
- cancerRenal Medullary Carcinomacivic_curation1.00
- geneSMARCB1civic_curation1.00
- variantSMARCB1 Losscivic_curation1.00
Curated evidence
Evidence citing this paper (2)
- Source
- CIViC — Clinical Interpretation of Variants in Cancer
- Dataset
- CIViC evidence items
- Version
- civic-2026-09-08
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- expert curation
- License
- CC0 1.0
- PMID
- 30980040
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| SMARCB1 Loss1 | ||||||||
| (diagnostic) | Renal Medullary Carcinoma | Diagnostic | B | Supports Positive | 2 | accepted | EID11165In a retrospective analysis of 20 patients with renal medullary carcinoma, all patients had loss of SMARCB1 staining by IHC. FISH revealed 11 (55%) had a SMARCB1 translocation with loss of the second… (full text at CIViC) PMID 30980040 · Jia et al., 2019 · Open in CIViC | civic |
| 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 |