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Variants & evidence
4 evidence items mapped to this entity or its descendants, grouped by molecular profile, then therapy. 50 items per page.
| Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|
| DICER1 Loss-of-function1 | |||||||
| (predisposing) | Predisposing | B | Supports Predisposition | 2 | submitted | EID11473Analysis of DICER1 mutations in tumor/normal pairs from pediatric patients (7 months to 13 yo) with anaplastic sarcoma of the kidney identified a somatic RNase IIIb DICER1 mutation in 8 of 9 cases (89… (full text at CIViC) PMID 28862265 · Wu et al., 2018 · Open in CIViC | civic |
| DICER1 RNase IIIb Mutation1 | |||||||
| (oncogenic) | Oncogenic | D | Supports Oncogenicity | 2 | submitted | EID11472An analysis of DICER1 mutations in anaplastic sarcoma of the kidney identified RNase IIIb DICER1 mutations in 8 of 9 cases (89%). An in vitro cleavage assay of miR122 demonstrated that three of the DI… (full text at CIViC) PMID 28862265 · Wu et al., 2018 · Open in CIViC | civic |
| DICER1 Loss-of-function + DICER1 RNase IIIb Mutation1 | |||||||
| (diagnostic) | Diagnostic | B | Supports Positive | 4 | submitted | EID11471Analysis of DICER1 mutations in tumor/normal pairs from pediatric patients (7 months to 13 yo) with anaplastic sarcoma of the kidney identified at least 1 RNase IIIb DICER1 mutation in 8 of 9 cases (… (full text at CIViC) PMID 28862265 · Wu et al., 2018 · Open in CIViC | civic |
| NTRK3 Fusion1 | |||||||
| (diagnostic) | Diagnostic | C | Does Not Support Negative | 1 | submitted | EID10421In 4 cases of Anaplastic sarcoma of the kidney ETV6::NTRK3 fusion was negative. PMID 17895746 · Vujanić et al., 2007 · Open in CIViC | civic |
Data updated 23 hours 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.