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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 E1705K1 | |||||||
| (diagnostic) | Diagnostic | C | Supports Positive | 2 | accepted | EID11480In an analysis of a range of different ovarian sex cord-stromal tumors, 2 of 5 gynandroblastomas were found to have the DICER1 E1705K hotspot mutation supporting a role for DICER1 in a subset of these… (full text at CIViC) PMID 26428316 · Conlon et al., 2015 · Open in CIViC | civic |
| DICER1 Loss-of-function1 | |||||||
| (predisposing) | Predisposing | A | Supports Predisposition | 2 | submitted | EID11479In an analysis of 107 patients enrolled in the International Ovarian and Testicular Stromal Tumor Registry, 5 had gynandroblastoma (14-32 yo). 4 of the 4 gynandroblastoms with material available for … (full text at CIViC) PMID 29037807 · Schultz et al., 2017 · Open in CIViC | civic |
| DICER1 RNase IIIb Mutation1 | |||||||
| (diagnostic) | Diagnostic | C | Supports Positive | 2 | submitted | EID11481Genomic analysis identified DICER1 RNase IIIb domain hotspot mutations in 3 of 16 cases of gynandroblastoma, leading the authors to suggest that DICER1 hotspot mutations are a key driver in a subset o… (full text at CIViC) PMID 29660837 · Wang et al., 2018 · Open in CIViC | civic |
| DICER1 Loss-of-function + DICER1 RNase IIIb Mutation1 | |||||||
| (diagnostic) | Diagnostic | B | Supports Positive | 3 | submitted | EID11478In an analysis of 107 patients enrolled in the International Ovarian and Testicular Stromal Tumor Registry, 5 had gynandroblastoma (14-32 yo). 4 of the 4 gynandroblastoms with material available for … (full text at CIViC) PMID 29037807 · Schultz et al., 2017 · Open in CIViC | civic |
Data updated 17 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.