SMARCB1-Deficient Kidney Medullary Carcinoma — Variants & evidence

SMARCB1-Deficient Kidney Medullary Carcinoma — Variants & evidence · CancerIndex

Variants & evidence

Curated clinical evidence by variant and therapy

2 evidence items mapped to this entity or its descendants, grouped by molecular profile, then therapy. 50 items per page.

civicCuratedShowing 1–2 of 2 evidence items · levels, directions and significance as curated at the source; each row links to its CIViC record.

Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
HBB E6V1
(predisposing)	Predisposing	B	Supports Predisposition	2	submitted	EID11166 In 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)	Diagnostic	B	Supports Positive	2	accepted	EID11168 In 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 24 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.