Cancer Family
Eye Neoplasm
CI-CAN-00000017Explore in graph →
Loading cancer entity…
Cancer Family
CI-CAN-00000017Explore in graph →
Variants & evidence
26 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 |
|---|---|---|---|---|---|---|---|---|
| BAP1 EXPRESSION1 | ||||||||
| (prognostic) | Uveal Melanoma | Prognostic | B | Supports Better Outcome | 3 | accepted | EID458In patients with uveal melanoma, those with BAP1 expression (determined by immunohistochemical staining) had better survival. PMID 25147369 · van Essen et al., 2014 · Open in CIViC | civic |
| BAP1 Mutation1 | ||||||||
| Panobinostat + Trichostatin A + Valproic Acid + VorinostatSubstitutes | Uveal Melanoma | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID1234Somatic and germline BAP1 mutations are associated with uveal melanoma. In this preclinical study, gene set enrichment analysis revealed HDAC inhibitors as potential drugs in BAP1 mutant uveal melanom… (full text at CIViC) PMID 22038994 · Landreville et al., 2012 · Open in CIViC | civic |
| BRAF V600E1 | ||||||||
| Vemurafenib | Conjunctival MelanomaALIAS | Predictive | C | Supports Sensitivity Response | 2 | submitted | EID3790In a conjunctival malignant melanoma patient harboring a BRAF V600E mutation, BRAF V600E was associated with response to vemurafenib treatment. Prior to identification of the BRAF V600E mutation, the … (full text at CIViC) PMID 27520988 · Maleka et al., 2016 · Open in CIViC | civic |
| CDKN1A rs10592341 | ||||||||
| (predisposing) | Retinoblastoma | Predisposing | B | Supports Predisposition | 3 | accepted | EID9244This study examined two CDKN1A polymorphisms (rs1801270 and rs1059234) in 141 carriers of RB1 variants and 120 unrelated healthy individuals. Authors found that RB1 carriers were more likely to have t… (full text at CIViC) PMID 24045412 · Carvalho et al., 2013 · Open in CIViC | civic |
| CDKN1A rs18012701 | ||||||||
| (predisposing) | Retinoblastoma | Predisposing | B | Supports Predisposition | 3 | accepted | EID7227This study examined two CDKN1A polymorphisms (rs1801270 and rs1059234) in 141 carriers of RB1 variants and 120 unrelated healthy individuals. Authors found that RB1 carriers were more likely to have t… (full text at CIViC) PMID 24045412 · Carvalho et al., 2013 · Open in CIViC | civic |
| CDKN1A rs1801270 and rs10592341 | ||||||||
| (predisposing) | Retinoblastoma | Predisposing | B | Supports Predisposition | 3 | submitted | EID9245This study examined two CDKN1A polymorphisms (rs1801270 and rs1059234) in 141 carriers of RB1 variants and 120 unrelated healthy individuals. Authors found the chance of developing retinoblastoma incr… (full text at CIViC) PMID 24045412 · Carvalho et al., 2013 · Open in CIViC | civic |
| DDX43 Overexpression1 | ||||||||
| Mirdametinib + Selumetinib + TrametinibSubstitutes | Uveal Melanoma | Predictive | D | Supports Resistance | 4 | accepted | EID1135MEK inhibitor-resistant (selumetinib, PD0325901, GSK1129212) uveal melanoma cell lines were created from two GNAQ Q209L mutant cell lines. Overexpression of DDX43 mediated RAS-induced selumetinib resi… (full text at CIViC) PMID 24899684 · Ambrosini et al., 2014 · Open in CIViC | civic |
| EIF1AX MUTATION1 | ||||||||
| (prognostic) | Uveal Melanoma | Prognostic | C | Supports Better Outcome | 4 | accepted | EID1712EIF1AX was identified as a uveal melanoma (UM) driver gene by whole-exome sequencing. Approximately 14%–20% of UM carry a mutation in EIF1AX, with most mutations found in exons 1 and 2. EIF1AX mutatio… (full text at CIViC) PMID 23793026 · Martin et al., 2013 · Open in CIViC | civic |
| ERBB3 Overexpression1 | ||||||||
| Selumetinib + TrametinibSubstitutes | Uveal Melanoma | Predictive | D | Supports Resistance | 4 | submitted | EID3050MEK inhibitors improve survival in cutaneous melanoma patients but show only modest efficacy in metastatic uveal melanoma patients. In this study, we screened for growth factors that elicited resistan… (full text at CIViC) PMID 25952648 · Cheng et al., 2015 · Open in CIViC | civic |
| GNA11 Mutation4 | ||||||||
| Cabozantinib | Uveal Melanoma | Predictive | B | Supports Sensitivity Response | 3 | accepted | EID3049In total, 77 patients with metastatic melanoma (62% cutaneous, 30% uveal, 8% mucosal) were admitted into a randomized phase II trial assessing the efficacy of Cabozantinib. Patients received cabozanti… (full text at CIViC) PMID 28103611 · Daud et al., 2017 · Open in CIViC | civic |
| JQ1 | Uveal Melanoma | Predictive | D | Supports Sensitivity Response | 1 | accepted | EID1211Preclinical study in uveal melanoma cell lines. Cell lines (n=5) with GNAQ (92.1, Omm1.3, Mel270, Mel202) or GNA11 (Omm1) mutation were more sensitive to BRD4 inhibition with JQ1 than GNAQ/11 wild typ… (full text at CIViC) PMID 26397223 · Ambrosini et al., 2015 · Open in CIViC | civic |
| Mirdametinib + Sotrastaurin AcetateCombination | Uveal Melanoma | Predictive | D | Supports | ||||
| GNA11 Q2091 | ||||||||
| Selumetinib | Uveal Melanoma | Predictive | B | Does Not Support Sensitivity Response | 3 | accepted | EID1212101 patients with metastatic uveal melanoma were randomized 1:1 to receive selumetinib or chemotherapy. Median PFS among patients randomized to chemotherapy was 7 weeks (95% CI, 4.3-8.4 weeks; median … (full text at CIViC) PMID 24938562 · Carvajal et al., 2014 · Open in CIViC | civic |
| GNAQ Mutation4 | ||||||||
| Cabozantinib | Uveal Melanoma | Predictive | B | Supports Sensitivity Response | 2 | accepted | EID5068Patients with metastatic melanoma (n=77; 48 cutaneous, 23 uveal, 6 mucosal) were enrolled in a phase II randomised discontinuation trial assessing cabozantinib. Patients received 100 mg cabozantinib d… (full text at CIViC) PMID 28103611 · Daud et al., 2017 · Open in CIViC | civic |
| JQ1 | Uveal Melanoma | Predictive | D | Supports Sensitivity Response | 2 | accepted | EID1210Preclinical study in uveal melanoma cell lines. Cell lines (n=4) with GNAQ mutation (92.1, Omm1.3, Mel270, Mel202) were more sensitive to BRD4 inhibition with JQ1 than GNAQ/GNA11 wild type (n=3) cell … (full text at CIViC) PMID 26397223 · Ambrosini et al., 2015 · Open in CIViC | civic |
| Mirdametinib + Sotrastaurin AcetateCombination | Uveal Melanoma | Predictive | D | Supports | ||||
| GNAQ Q2092 | ||||||||
| Refametinib | Uveal Melanoma | Predictive | C | Supports Sensitivity Response | 2 | accepted | EID1233Phase 1 study of MAPK1/2 inhibitor BAY 86-9766. 53 patients were evaluated for efficacy, one patients achieved a PR and 11 patients had stable disease. One ocular melanoma patient with prolonged stabl… (full text at CIViC) PMID 23434733 · Weekes et al., 2013 · Open in CIViC | civic |
| Selumetinib | Uveal Melanoma | Predictive | B | Does Not Support Sensitivity Response | 3 | accepted | EID1213101 patients with metastatic uveal melanoma were randomized 1:1 to receive selumetinib or chemotherapy. Median PFS among patients randomized to chemotherapy was 7 weeks (95% CI, 4.3-8.4 weeks; median … (full text at CIViC) PMID 24938562 · Carvajal et al., 2014 · Open in CIViC | civic |
| KIT EXPRESSION1 | ||||||||
| Dasatinib | Ocular Melanoma | Predictive | C | Does Not Support Sensitivity Response | 1 | submitted | EID7758In a phase 2 clinical trial of 39 stage 3/4 chemotherapy-naive unresectable melanoma patients receiving dasatinib without prior biomarker screening, six patients achieved clinical benefit (2 PR; 4 SD)… (full text at CIViC) PMID 21523734 · Kluger et al., 2011 · Open in CIViC | civic |
| MBD4 Frameshift1 | ||||||||
| PD1 Inhibitor | Uveal Melanoma | Predictive | C | Supports Sensitivity Response | 4 | submitted | EID7596In a cohort of 42 metastatic uveal melanoma patients treated with PD-1 inhibition, only one responded. A germline frameshift mutation in MBD4 was identified in this responder patient, with somatic los… (full text at CIViC) PMID 29760383 · Rodrigues et al., 2018 · Open in CIViC | civic |
| MET Overexpression4 | ||||||||
| Crizotinib | Uveal Melanoma | Predictive | D | Supports Sensitivity Response | 1 | accepted | EID1583c-MET and ligand HGF were expressed by 6 uveal melanoma cell lines in-vitro. GNA-mutant cell lines (n=3) showed stronger expression of ligand and receptor as well as more receptor phosphorylation. SiR… (full text at CIViC) PMID 24140933 · Surriga et al., 2013 · Open in CIViC | civic |
| 〃 | Uveal Melanoma | Predictive | E | Supports Sensitivity Response | 2 | rejected | EID1582Preclinical study in uveal melanoma cell lines. c-MET was identified as a transcriptional target of miR-144. miR-144 was downregulated in 4 uveal melanoma cell lines and 5 human uveal melanoma tumor t… (full text at CIViC) PMID 25961751 · Sun et al., 2015 · Open in CIViC | civic |
| C-Met Inhibitor + ERBB3 Inhibitor + Mitogen-Activated Protein Kinase Kinase InhibitorCombination | Uveal Melanoma | |||||||
Data updated 6 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.
| 3 |
| accepted |
EID1952Preclinical study in uveal melanoma. Increased PKC activity was found in uveal melanoma cell lines with GNA11 or GNAQ mutations (n=6) compared to GNA wt cell lines (n=4) and could be induced by introd… (full text at CIViC) PMID 24141786 · Chen et al., 2014 · Open in CIViC |
| civic |
| Trametinib | Uveal Melanoma | Predictive | C | Supports Sensitivity Response | 2 | accepted | EID1228Phase 1 study of trametinib in 97 patients with melanoma (16 with uveal melanoma). Analysis in patients with uveal melanoma identified GNAQ and GNA11 mutations in six patients, in which three SD and t… (full text at CIViC) PMID 22805292 · Falchook et al., 2012 · Open in CIViC | civic |
| 4 |
| accepted |
EID1953Preclinical study in uveal melanoma. Increased PKC activity was found in uveal melanoma cell lines with GNA11 or GNAQ mutations (n=6) compared to GNA wt cell lines (n=4) and could be induced by introd… (full text at CIViC) PMID 24141786 · Chen et al., 2014 · Open in CIViC |
| civic |
| Trametinib | Uveal Melanoma | Predictive | B | Supports Sensitivity Response | 2 | accepted | EID1229Phase 1 study of trametinib in 97 patients with melanoma (16 with uveal melanoma). Analysis in patients with uveal melanoma identified GNAQ and GNA11 mutations in six patients, in which three SD and t… (full text at CIViC) PMID 22805292 · Falchook et al., 2012 · Open in CIViC | civic |
| Predictive |
| D |
| Supports Sensitivity Response |
| 3 |
| submitted |
EID3037MEK inhibitors improve survival in cutaneous melanoma patients but show only modest efficacy in metastatic uveal melanoma patients. In this study, we screened for growth factors that elicited resistan… (full text at CIViC) PMID 25952648 · Cheng et al., 2015 · Open in CIViC |
| civic |
| Selumetinib + TrametinibSubstitutes | Uveal Melanoma | Predictive | D | Supports Resistance | 3 | accepted | EID3038In this study the authors screened for growth factors that elicited resistance in newly characterized metastatic uveal melanoma cell lines to clinical-grade MEK inhibitors, trametinib and selumetinib,… (full text at CIViC) PMID 25952648 · Cheng et al., 2015 · Open in CIViC | civic |