Cancer Family
Stromal Neoplasm
CI-CAN-00000360Explore in graph →
- NCIt
- C6781
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Cancer Family
CI-CAN-00000360Explore in graph →
Variants & evidence
242 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 |
|---|---|---|---|---|---|---|---|---|
| BRAF Exon 15 Mutation2 | ||||||||
| Regorafenib Anhydrous | Gastrointestinal Stromal Tumor | Predictive | C | Does Not Support Sensitivity Response | 2 | accepted | EID4121This phase II clinical trial of regorafenib (NCT01068769) examined the long term safety and efficacy of regorafenib monotherapy in patients with metastatic and/or unresectable gastrointestinal stromal… (full text at CIViC) PMID 27371698 · Ben-Ami et al., 2016 · Open in CIViC | civic |
| 〃 | Gastrointestinal Stromal Tumor | Predictive | C | Supports Resistance | 1 | accepted | EID4605This retrospective study of a phase 2 clinical trial (NCT01068769) examined regorafenib safety and efficacy in advanced gastrointestinal stromal tumor (GIST) patients refractory to at least imatinib a… (full text at CIViC) PMID 22614970 · George et al., 2012 · Open in CIViC | civic |
| CDKN2A Deletion1 | ||||||||
| Palbociclib | Gastrointestinal Stromal Tumor | Predictive | B | Does Not Support Sensitivity Response | 4 | submitted | EID7311In a phase 2 trial, patients with GIST bearing CDKN2A gene loss were treated with Palbociclib. 86.4% of patients had PD at 4 months. PMID 30979737 · Toulmonde et al., 2019 · Open in CIViC | civic |
| NTRK3 Fusion1 | ||||||||
| Entrectinib | Gastrointestinal Stromal Tumor | Predictive | C | Supports Sensitivity Response | 2 | submitted | EID12527Plasma ctDNA analysis detected an ETV6:NTRK3 fusion (described by the authors as "ETV6 exon4:NTRK3 exon14" at a VAF of 35.3%) in a female patient with recurrent GIST. Entrectinib therapy (600 mg daily… (full text at CIViC) PMID 40900786 · Dong et al., 2025 · Open in CIViC | civic |
| KIT 557/558 in-frame deletion/delins1 | ||||||||
| Imatinib | Gastrointestinal Stromal Tumor | Predictive | B | Supports Reduced Sensitivity | 3 | submitted | EID12935Gastrointestinal stromal tumor patients with KIT exon 11 mutations were stratified based on the location of their pathogenic variant in exon 11 and those with a deletion or deletion/insertion of codon… (full text at CIViC) PMID 33673554 · Incorvaia et al., 2021 · Open in CIViC | civic |
| KIT A502_Y503dup2 | ||||||||
| Imatinib + Ponatinib + RegorafenibSubstitutes | Gastrointestinal Stromal Tumor | Predictive | D | Does Not Support Sensitivity Response | 3 | accepted | EID4630In an in vitro study, an IL-3-independent Ba/F3 cell line expressing the KIT exon 9 A502_Y503dup primary activating mutation demonstrated reduced sensitivity to regorafenib (IC50: 138 nmol/L), imatini… (full text at CIViC) PMID 25239608 · Garner et al., 2014 · Open in CIViC | civic |
| Sunitinib | Gastrointestinal Stromal Tumor | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID4506In an in vitro study, a Ba/F3 cell line expressing KIT A502_Y503dup (502AY in the paper) mutation (overexpression) demonstrated sensitivity to sunitinib treatment (IC50: 5nM) similar to Ba/F3 cells ex… (full text at CIViC) PMID 25239608 · Garner et al., 2014 · Open in CIViC | civic |
| KIT A829P3 | ||||||||
| Ponatinib | Gastrointestinal Stromal Tumor | Predictive | D | Does Not Support Resistance | 4 | accepted | EID7413Ponatinib possesses potent activity against A829P KIT mutant cells in preclinical experiments. A preclinical study tested the effect of a tyrosine kinase inhibitor (TKI) on Ba/F3 cell lines with repre… (full text at CIViC) PMID 25239608 · Garner et al., 2014 · Open in CIViC | civic |
| 〃 | Gastrointestinal Stromal Tumor | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID5862Ponatinib possesses potent activity against most major clinically-relevant KIT mutants, and has demonstrated preliminary evidence of activity in patients with refractory GIST. These data strongly supp… (full text at CIViC) PMID 25239608 · Garner et al., 2014 · Open in CIViC | civic |
| Imatinib + SunitinibSubstitutes | Gastrointestinal Stromal Tumor | Predictive | D | |||||
| KIT A829P + KIT V560_Y578del1 | ||||||||
| Imatinib + SunitinibSubstitutes | Gastrointestinal Stromal Tumor | Predictive | D | Supports Resistance | 3 | submitted | EID12467Patient-derived GIST-T1/829 cells with driver mutation KIT 560-578 deletion and secondary KIT A829P mutations were tested for TKI responsiveness. 560-578del and A829P cells (Sunitinib IC50: 1168 nM an… (full text at CIViC) PMID 25239608 · Garner et al., 2014 · Open in CIViC | civic |
| KIT C809G1 | ||||||||
| Imatinib | Gastrointestinal Stromal Tumor | Predictive | C | Supports Resistance | 3 | accepted | EID2920147 patients with advanced, unresectable GISTs were enrolled onto a randomized, phase II clinical study of imatinib (CSTI571-B2222). Specimens from 43 pretreatment and/or imatinib-resistant tumors wer… (full text at CIViC) PMID 16954519 · Heinrich et al., 2006 · Open in CIViC | civic |
| KIT D419del2 | ||||||||
| (predisposing) | Gastrointestinal Stromal Tumor | Predisposing | C | N/A N/A | 3 | submitted | EID9295A novel germline KIT variant, D419del, was discovered in a family with mastocytosis. Case 1, a 60 year old German woman, also had a gastrointestinal stromal tumor (GIST) and dysphagia. Case 2, her 38 … (full text at CIViC) PMID 16143141 · Hartmann et al., 2005 · Open in CIViC | civic |
| Imatinib | Gastrointestinal Stromal Tumor | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID1962Family with both familial GISTs and mastocytosis expressed a novel germline KIT mutation in exon 8 (p.419del) affecting the extracellular domain of KIT. This mutation activates KIT, and the mutant KIT… (full text at CIViC) PMID 16143141 · Hartmann et al., 2005 · Open in CIViC | civic |
| KIT D579del3 | ||||||||
| Imatinib | Gastrointestinal Stromal Tumor | Predictive | D | Supports Sensitivity Response | — | submitted | EID2485Molecular models predict that deletion of a portion of the juxtamembrane domain relieves steric hindrance and results in higher binding affinity for imatinib. PMID 21364689 · Pierotti et al., 2011 · Open in CIViC | civic |
| Sunitinib | Gastrointestinal Stromal Tumor | Predictive | C | Supports Resistance | 2 | accepted | EID4142Patient 74 from a larger cohort of genotyped patients (n= 78) with imatinib resistant or intolerant gastrointestinal stromal tumors (GISTs) harbored a primary (pre-imatinib treatment) KIT D579 deletio… (full text at CIViC) PMID 18955458 · Heinrich et al., 2008 · Open in CIViC | civic |
| 〃 | Gastrointestinal Stromal Tumor | Predictive | C | Supports Resistance | — | submitted | ||
| KIT D579_H580insIDPTQLPYD1 | ||||||||
| Sunitinib | Gastrointestinal Stromal Tumor | Predictive | D | Supports Resistance | — | submitted | EID4585In an in vitro study, a 32D cell line expressing KIT D579_H580insIDPTQLPYD mutation (overexpression) demonstrated reduced sensitivity to sunitinib treatment (IC50: 47.4nM) compared to 32D cells expres… (full text at CIViC) PMID 24205792 · Zhao et al., 2014 · Open in CIViC | civic |
| KIT D816E1 | ||||||||
| Imatinib + SunitinibSubstitutes | Gastrointestinal Stromal Tumor | Predictive | D | Supports Resistance | 4 | accepted | EID4631Several preclinical studies were done in order to test the effects of various tyrosine kinase inhibitors (TKIs) on KIT-mutant cell lines derived from Gastrointestinal Stromal Tumor (GIST) patients wit… (full text at CIViC) PMID 25239608 · Garner et al., 2014 · Open in CIViC | civic |
| KIT D816E + KIT V560_Y578del1 | ||||||||
| Ponatinib | Gastrointestinal Stromal Tumor | Predictive | D | Does Not Support Resistance | 4 | accepted | EID7401A preclinical study was done in order to test the effects of a tyrosine kinase inhibitor (TKI) on the ponatinib-sensitive KIT-mutant cell line GIST-T1 derived from Gastrointestinal Stromal Tumor (GIST… (full text at CIViC) PMID 25239608 · Garner et al., 2014 · Open in CIViC | civic |
| KIT D816G2 | ||||||||
| Ponatinib | Gastrointestinal Stromal Tumor | Predictive | D | Supports Sensitivity Response | 4 | submitted | EID7410Ponatinib possesses potent activity against D816G KIT mutant in preclinical experiments. PMID 25239608 · Garner et al., 2014 · Open in CIViC | civic |
| Regorafenib | Gastrointestinal Stromal Tumor | Predictive | D | Supports Resistance | 2 | submitted | EID4157In an in vitro study, a Ba/F3 cell line expressing KIT W557_K558del primary mutation (known to confer sensitivity to regorafenib) and KIT D816G secondary mutation, KIT D816G was associated with decrea… (full text at CIViC) PMID 25239608 · Garner et al., 2014 · Open in CIViC | civic |
| KIT D816H4 | ||||||||
| Imatinib | Gastrointestinal Stromal Tumor | Predictive | C | Supports Resistance | 3 | accepted | EID2923147 patients with advanced, unresectable GISTs were enrolled onto a randomized, phase II clinical study of imatinib (CSTI571-B2222). Specimens from 43 pretreatment and/or imatinib-resistant tumors wer… (full text at CIViC) PMID 16954519 · Heinrich et al., 2006 · Open in CIViC | civic |
| Ponatinib | Gastrointestinal Stromal Tumor | Predictive | D | Supports Sensitivity Response | 4 | submitted | EID7409Ponatinib possesses potent activity against D816H KIT mutant in preclinical experiments. PMID 25239608 · Garner et al., 2014 · Open in CIViC | civic |
| Regorafenib | Gastrointestinal Stromal Tumor | Predictive | D | Supports Resistance | 3 | submitted | EID4152 | |
| KIT D816V2 | ||||||||
| Sunitinib | Gastrointestinal Stromal Tumor | Predictive | D | Supports Resistance | — | submitted | EID4160In an in vitro study, a 32D cell line expressing KIT D816V mutation (overexpression) demonstrated reduced sensitivity to sunitinib treatment (IC50: 294.7nM) compared to 32D cells expressing wild-type … (full text at CIViC) PMID 24205792 · Zhao et al., 2014 · Open in CIViC | civic |
| 〃 | Gastrointestinal Stromal Tumor | Predictive | E | Supports Resistance | 2 | submitted | EID6956Sunitinib has shown efficacy against certain imatinib-resistant mutants, although a subset that resides in the activation loop, including D816H/V, remains resistant. Biochemical and structural studies… (full text at CIViC) PMID 19164557 · Gajiwala et al., 2009 · Open in CIViC | civic |
| KIT D816Y2 | ||||||||
| Ponatinib + Regorafenib + SunitinibSubstitutes | Gastrointestinal Stromal Tumor | Predictive | D | Supports Resistance | 2 | submitted | EID4156In an in vitro study, a Ba/F3 cell line expressing KIT 557-558del primary mutation (known to confer sensitivity to regorafenib) was incubated in various concentrations of ponatinib, sunitinib, or rego… (full text at CIViC) PMID 25239608 · Garner et al., 2014 · Open in CIViC | civic |
| Sunitinib | Gastrointestinal Stromal Tumor | Predictive | D | Supports Resistance | — | submitted | EID4155In an in vitro study, a 32D cell line expressing KIT D816Y mutation (overexpression) demonstrated reduced sensitivity to sunitinib treatment (IC50: 73.1nM) compared to 32D cells expressing wild-type K… (full text at CIViC) PMID 24205792 · Zhao et al., 2014 · Open in CIViC | civic |
| KIT D820A3 | ||||||||
| Imatinib | Gastrointestinal Stromal Tumor | Predictive | C | Supports Resistance | 3 | accepted | EID2921147 patients with advanced, unresectable GISTs were enrolled onto a randomized, phase II clinical study of imatinib (CSTI571-B2222). Specimens from 43 pretreatment and/or imatinib-resistant tumors wer… (full text at CIViC) PMID 16954519 · Heinrich et al., 2006 · Open in CIViC | civic |
| Ponatinib | Gastrointestinal Stromal Tumor | Predictive | D | Supports Sensitivity Response | 4 | submitted | EID7411In an in vitro study, Ba/F3 cell lines expressing KIT primary mutations and KIT D820A secondary mutation, KIT D820A was associated with similar sensitivity to ponatinib treatment compared to Ba/F3 cel… (full text at CIViC) PMID 25239608 · Garner et al., 2014 · Open in CIViC | civic |
| Regorafenib | Gastrointestinal Stromal Tumor | Predictive | D | Supports Resistance | ||||
| KIT D820G1 | ||||||||
| Imatinib | Gastrointestinal Stromal Tumor | Predictive | C | Supports Resistance | 3 | accepted | EID2922147 patients with advanced, unresectable GISTs were enrolled onto a randomized, phase II clinical study of imatinib (CSTI571-B2222). Specimens from 43 pretreatment and/or imatinib-resistant tumors wer… (full text at CIViC) PMID 16954519 · Heinrich et al., 2006 · Open in CIViC | civic |
| KIT D820Y1 | ||||||||
| Regorafenib Anhydrous | Gastrointestinal Stromal Tumor | Predictive | C | Supports Sensitivity Response | 2 | accepted | EID4589This retrospective study of a phase 2 clinical trial (NCT01068769) examined regorafenib safety and efficacy in advanced gastrointestinal stromal tumor (GIST) patients refractory to at least imatinib a… (full text at CIViC) PMID 22614970 · George et al., 2012 · Open in CIViC | civic |
| KIT DEL 554-5582 | ||||||||
| Imatinib | Gastrointestinal Stromal Tumor | Predictive | D | Supports Sensitivity Response | — | submitted | EID2413Molecular models predict that deletion of a portion of the juxtamembrane domain relieves steric hindrance and results in higher binding affinity for imatinib. PMID 21364689 · Pierotti et al., 2011 · Open in CIViC | civic |
| Sunitinib | Gastrointestinal Stromal Tumor | Predictive | C | Supports Resistance | — | submitted | EID4073In a retrospective study of 1124 sunitinib-treated gastrointestinal stromal tumor patients, patients with primary KIT exon 11 mutations (n=143) were associated with decreased progression free surviva… (full text at CIViC) PMID 26772734 · Reichardt et al., 2016 · Open in CIViC | civic |
| KIT E554D1 | ||||||||
| Imatinib | Gastrointestinal Stromal Tumor | Predictive | D | Supports Sensitivity Response | — | submitted | EID2416Molecular models predict that deletion of a portion of the juxtamembrane domain relieves steric hindrance and results in higher binding affinity for imatinib. PMID 21364689 · Pierotti et al., 2011 · Open in CIViC | civic |
| KIT Exon 11 Mutation12 | ||||||||
| (prognostic) | Gastrointestinal Stromal Tumor | Prognostic | B | Supports Better Outcome | 4 | rejected | EID653Patients with Exon 11 Kit mutations (N=85) had significantly better event-free and overall survival than patients with Exon 9 Kit mutations (N=23) or no Kit mutations (N=9). PMID 14645423 · Heinrich et al., 2003 · Open in CIViC | civic |
| 〃 | Gastrointestinal Stromal Tumor | Prognostic | B | Does Not Support N/A | 3 | accepted | EID53There is no significant association between wildtype KIT or KIT mutations in exon 9 or 11 in survival among GIST patients. PMID 16551858 · Wardelmann et al., 2006 · Open in CIViC | civic |
| 〃 | Gastrointestinal Stromal Tumor | Prognostic | B | Does Not Support N/A | 3 | accepted | EID333KIT mutations were identified in morphologically benign, incidentally discovered GISTs at a rate similar to that seen in advanced, metastatic GIST patients indicating is not a prognostic marker for GI… | |
Data updated 7 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.
| Supports Resistance |
| 4 |
| accepted |
EID7415Several preclinical studies tested the effects of various tyrosine kinase inhibitors (TKIs) on Ba/F3 cell lines with representative primary sunitinib and imatinib sensitizing mutation del 557-558, whi… (full text at CIViC) PMID 25239608 · Garner et al., 2014 · Open in CIViC |
| civic |
EID4143In a retrospective study of 1124 sunitinib-treated gastrointestinal stromal tumor patients, patients with primary KIT exon 11 mutations (n=143) were associated with decreased progression free surviva… (full text at CIViC) PMID 26772734 · Reichardt et al., 2016 · Open in CIViC |
| civic |
In an in vitro study, Ba/F3 cell lines expressing different KIT primary mutations (known to confer sensitivity to regorafenib) and KIT D816H secondary mutation, KIT D816H was associated with decreased… (full text at CIViC)
PMID 25239608 · Garner et al., 2014 · Open in CIViC
| civic |
| Sunitinib | Gastrointestinal Stromal Tumor | Predictive | D | Supports Sensitivity Response | — | submitted | EID4151In an in vitro study, a 32D cell line expressing KIT D816H mutation (overexpression) demonstrated sensitivity to sunitinib treatment (IC50: 17.5nM) similar to 32D cells expressing KIT wild-type (overe… (full text at CIViC) PMID 24205792 · Zhao et al., 2014 · Open in CIViC | civic |
| 3 |
| submitted |
EID4164In an in vitro study, a Ba/F3 cell line expressing KIT W557_K558del primary mutation (known to confer sensitivity to regorafenib) and KIT D820A secondary mutation, KIT D820A was associated with decrea… (full text at CIViC) PMID 25239608 · Garner et al., 2014 · Open in CIViC |
| civic |
PMID 12000708 · Corless et al., 2002 · Open in CIViC
| civic |
| 〃 | Gastrointestinal Stromal Tumor | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID376KIT mutation is associated with worse overall and cause-specific prognosis in patients with GIST compared to patients with wildtype KIT. PMID 10485475 · Taniguchi et al., 1999 · Open in CIViC | civic |
| (diagnostic) | Gastrointestinal Stromal Tumor | Diagnostic | B | Supports Positive | 2 | accepted | EID225KIT mutation is associated with larger, more invasive tumors, greater pathologic histology and older patients compared to tumors with wildtype KIT. PMID 10485475 · Taniguchi et al., 1999 · Open in CIViC | civic |
| Imatinib | Gastrointestinal Stromal Tumor | Predictive | A | Supports Sensitivity Response | 4 | accepted | EID654This prospective study of 127 pretreatment patients with metastatic gastrointestinal stromal tumors (GISTs) examined the relationship between kinase (KIT and PDGFRA) genotype and treatment outcome for… (full text at CIViC) PMID 14645423 · Heinrich et al., 2003 · Open in CIViC | civic |
| 〃 | Gastrointestinal Stromal Tumor | Predictive | B | Supports Sensitivity Response | 4 | accepted | EID2471This prospective study of 397 patients with incurable (i.e. metastatic or unresectable) CD117-positive Gastrointestinal stromal tumors (GISTs) examined the relationship between KIT genotype and treatm… (full text at CIViC) PMID 18955451 · Heinrich et al., 2008 · Open in CIViC | civic |
| 〃 | Gastrointestinal Stromal Tumor | Predictive | E | Supports Sensitivity Response | 2 | submitted | civic |
| Regorafenib Anhydrous | Gastrointestinal Stromal Tumor | Predictive | B | Supports Sensitivity Response | 3 | accepted | EID6377This phase II clinical trial of regorafenib (NCT01068769) examined the long term safety and efficacy of regorafenib in patients with metastatic and/or unresectable gastrointestinal stromal tumors (GIS… (full text at CIViC) PMID 27371698 · Ben-Ami et al., 2016 · Open in CIViC | civic |
| 〃 | Gastrointestinal Stromal Tumor | Predictive | B | Supports Sensitivity Response | 2 | accepted | EID4599This international, placebo controlled prospective phase 3 clinical trial (NCT01271712) examined safety and efficacy of regorafenib in patients with metastatic and/or unresectable gastrointestinal str… (full text at CIViC) PMID 23177515 · Demetri et al., 2013 · Open in CIViC | civic |
| 〃 | Gastrointestinal Stromal Tumor | Predictive | B | Supports Sensitivity Response | 2 | accepted | EID4629This retrospective study of a phase 2 clinical trial (NCT01068769) examined regorafenib safety and efficacy in advanced gastrointestinal stromal tumor (GIST) patients who failed previous treatments wi… (full text at CIViC) PMID 22614970 · George et al., 2012 · Open in CIViC | civic |
| Sunitinib | Gastrointestinal Stromal Tumor | Predictive | B | Supports Resistance | 3 | accepted | EID4072In a phase I/II trial of sunitinib efficacy on imatinib resistant or intolerant gastrointestinal stromal tumor (GIST) patients (n=77), patients harboring primary (pre-imatinib treatment) KIT exon 11 m… (full text at CIViC) PMID 18955458 · Heinrich et al., 2008 · Open in CIViC | civic |