Other
Neoplasm by Site
CI-CAN-00000003Explore in graph →
Loading cancer entity…
Other
CI-CAN-00000003Explore in graph →
Variants & evidence
7,135 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 |
|---|---|---|---|---|---|---|---|---|
| ALK L1198F1 | ||||||||
| Crizotinib | Lung Non-Small Cell CarcinomaCURATED_BROADER | Predictive | C | Supports Sensitivity Response | — | submitted | EID4782In a metastatic EML4-ALK rearranged non-small cell lung carcinoma patient harboring ALK C1156Y (a known crizotinib resistance mutation) and ALK L1198F co-mutations, ALK L1198F was associated with rese… (full text at CIViC) PMID 26698910 · Shaw et al., 2016 · Open in CIViC | civic |
| ALK L1198P1 | ||||||||
| Crizotinib | Lung Non-Small Cell CarcinomaCURATED_BROADER | Predictive | D | Supports Resistance | — | submitted | EID4626In an in vitro study, a Ba/F3 cell line expressing EML4-ALK fusion (a known sensitizing alteration to crizotinib) and an ALK L1198P co-mutation, demonstrated resistance to crizotinib treatment compare… (full text at CIViC) PMID 21948233 · Heuckmann et al., 2011 · Open in CIViC | civic |
| ALK Mutation3 | ||||||||
| (prognostic) | Neuroblastoma | Prognostic | B | Supports Poor Outcome | 4 | submitted | EID13288In a Children's Oncology Group correlative study, 242 pretherapy tumours from patients enrolled on the phase III high-risk neuroblastoma trial ANBL0532 (NCT00567567) underwent ultra-deep targeted sequ… (full text at CIViC) PMID 40036726 · Berko et al., 2025 · Open in CIViC | civic |
| Ceritinib | Lung Non-Small Cell CarcinomaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 4 | accepted | EID1237In a phase 1 clinical trial (NCT01283516) 130 patients with advanced cancers all harboring ALK alterations were treated with ceritinib. Of 114 NSCLC patients treated with at least 400 mg/daily ceriti… (full text at CIViC) PMID 24670165 · Shaw et al., 2014 · Open in CIViC | civic |
| Lorlatinib | Lung Non-Small Cell CarcinomaCURATED_BROADER | Predictive | ||||||
| ALK R1192P3 | ||||||||
| (predisposing) | Neuroblastoma | Predisposing | B | Supports Predisposition | 4 | rejected | EID7567A genome-wide scan of single nucleotide polymorphisms in twenty neuroblastoma families identified the ALK gene as being disease linked. Sequencing of ALK exons identified 3 mutations, including R1192P… (full text at CIViC) PMID 18724359 · Mossé et al., 2008 · Open in CIViC | civic |
| 〃 | Neuroblastoma | Predisposing | B | Supports Predisposition | 4 | submitted | EID7569A genome-wide scan of single nucleotide polymorphisms in twenty neuroblastoma families identified the ALK gene as being disease linked. Sequencing of ALK exons identified 3 mutations, including R1192P… (full text at CIViC) PMID 18724359 · Mossé et al., 2008 · Open in CIViC | civic |
| Crizotinib | Lung Large Cell Carcinoma | Predictive | D | Supports Resistance | — | submitted | ||
| ALK R1275Q9 | ||||||||
| (predisposing) | Neuroblastoma | Predisposing | B | Supports Predisposition | 5 | submitted | EID7571A genome-wide scan of single nucleotide polymorphisms in twenty neuroblastoma families identified the ALK gene as being disease linked. Sequencing of ALK exons identified 3 mutations, including R1275Q… (full text at CIViC) PMID 18724359 · Mossé et al., 2008 · Open in CIViC | civic |
| ALK Inhibitor TAE684 | Neuroblastoma | Predictive | D | Supports Resistance | 3 | accepted | EID48The SMS-KCNR cell line harboring the R1275Q mutation was resistant to TAE684. PMID 18923525 · George et al., 2008 · Open in CIViC | civic |
| 〃 | Neuroblastoma | Predictive | D | Supports Sensitivity Response | 2 | accepted | EID39This study identified previously unknown mutations in the ALK gene in 8% (7/93) of primary neuroblastomas and neuroblastoma cell lines (6/30). R1275Q was found in the germline of one patient sample an… | |
| ALK R214H1 | ||||||||
| Crizotinib | Nasal Type Extranodal NK/T-Cell Lymphoma | Predictive | C | Supports Sensitivity Response | — | submitted | EID4827In a patient with nasal type extranodal NK/T-cell lymphoma harboring ALK R214H mutation, ALK R214H was associated with response to crizotinib monotherapy. Prior to identification of the ALK R214H muta… (full text at CIViC) PMID 27594191 · Thanarajasingam et al., 2016 · Open in CIViC | civic |
| ALK S1206Y + ALK Fusion1 | ||||||||
| Ceritinib | Lung Non-Small Cell CarcinomaCURATED_BROADER | Predictive | C | Supports Sensitivity Response | 2 | submitted | EID2865In a prospective study (NCT01283516) of 130 cancer patients, a non-small cell lung cancer patient harboring a S1206Y mutation in the ALK portion of the ALK rearrangement was associated with a 60% resp… (full text at CIViC) PMID 24670165 · Shaw et al., 2014 · Open in CIViC | civic |
| APC Mutation4 | ||||||||
| (prognostic) | Malignant Colorectal NeoplasmCURATED_BROADER | Prognostic | C | Supports Poor Outcome | 1 | submitted | EID8038While evidence from multiple clinical studies establishing a strong association between loss of function mutations in APC and response to 5-fluorouracil is lacking, some studies suggest APC mutations … (full text at CIViC) PMID 19307944 · Chen et al., 2009 · Open in CIViC | civic |
| G007-LK | Malignant Colorectal NeoplasmCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 4 | accepted | EID446G007-LK inhibits in vivo tumor growth in a subset of APC-mutant colorectal cancers xenograft models but may be limited by intestinal toxicity. PMID 23539443 · Lau et al., 2013 · Open in CIViC | civic |
| JW55 | Colon Carcinoma | Predictive | D | Supports | ||||
| APC Mutation + CTNNB1 Activating MutationAPCCTNNB11 | ||||||||
| Nirogacestat | Desmoid FibromatosisALIAS | Predictive | A | Supports Sensitivity Response | 2 | submitted | EID12023In a phase 3 trial (NCT03785964) involving 142 adults with progressing desmoid tumors, the gamma-secretase inhibitor nirogacestat demonstrated a significant progression-free survival benefit compared … (full text at CIViC) PMID 36884323 · Gounder et al., 2023 · Open in CIViC | civic |
| NRG1 Fusion + KRAS WildtypeNRG1KRAS1 | ||||||||
| Afatinib | Pancreatic Ductal Adenocarcinoma | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID7493Whole genome sequencing and transcriptomic analysis were performed on 47 advanced PDAC patients. 3/47 patients were KRAS wildtype and all three of these cases harbored a NRG1 fusion. In a 54-year-old … (full text at CIViC) PMID 31068372 · Jones et al., 2019 · Open in CIViC | civic |
| ARAF Mutation1 | ||||||||
| Cobimetinib | Langerhans Cell Histiocytosis | Predictive | B | Supports Sensitivity Response | 4 | submitted | EID11297In an open-label, phase II trial, 18 patients with histiocytosis, including two patients with Langerhans cell histiocytosis, of any mutational status were enrolled. Patients received cobimetinib at a … (full text at CIViC) PMID 30867592 · Diamond et al., 2019 · Open in CIViC | civic |
| ARAF Mutation + ARAF P216A + ARAF S225V1 | ||||||||
| Cobimetinib | Erdheim-Chester Disease | Predictive | B | Supports Sensitivity Response | 4 | submitted | EID11296In an open-label, phase II trial, 18 patients with histiocytosis, including 12 patients with Erdheim-Chester disease, one patient with ARAF S225V, and one patient with ARAF P216A, of any mutational st… (full text at CIViC) PMID 30867592 · Diamond et al., 2019 · Open in CIViC | civic |
| ARAF S214C4 | ||||||||
| (oncogenic) | Malignant Lung Neoplasm | Oncogenic | D | Supports Oncogenicity | 3 | accepted | EID11147194 somatic mutations seen in primary lung cancers were functionally evaluated using three approaches: (1) differences in pattern or extent of changes in gene expression in A549 cells induced by trans… (full text at CIViC) PMID 27478040 · Berger et al., 2016 · Open in CIViC | civic |
| Sorafenib | Lung Non-Small Cell CarcinomaCURATED_BROADER | Predictive | C | Supports Sensitivity Response | 2 | accepted | EID17In one patient with S214C mutation, the use of sorafenib has led to more than 5 years of survival and near remission. PMID 24569458 · Imielinski et al., 2014 · Open in CIViC | civic |
| 〃 | Lung Non-Small Cell CarcinomaCURATED_BROADER | Predictive | D | Supports | ||||
| ARAF S214F1 | ||||||||
| (oncogenic) | Malignant Lung Neoplasm | Oncogenic | D | Supports Oncogenicity | 3 | accepted | EID11146194 somatic mutations seen in primary lung cancers were functionally evaluated using three approaches: (1) differences in pattern or extent of changes in gene expression in A549 cells induced by trans… (full text at CIViC) PMID 27478040 · Berger et al., 2016 · Open in CIViC | civic |
| ARAF V145L1 | ||||||||
| (oncogenic) | Malignant Lung Neoplasm | Oncogenic | D | Does Not Support Oncogenicity | 3 | accepted | EID11148194 somatic mutations seen in primary lung cancers were functionally evaluated using three approaches: (1) differences in pattern or extent of changes in gene expression in A549 cells induced by trans… (full text at CIViC) PMID 27478040 · Berger et al., 2016 · Open in CIViC | civic |
| AR AR alternative transcripts2 | ||||||||
| (oncogenic) | Malignant Prostate Neoplasm | Oncogenic | B | Supports Oncogenicity | 4 | submitted | EID12402Analysing 101 samples of metastatic prostate cancer biopsy, a high friequency of structural variants in the AR gene were identified (23/101), comprising a heterogeneous mix of deletion, inversion, tra… (full text at CIViC) PMID 31932493 · Li et al., 2020 · Open in CIViC | civic |
| Abiraterone + EnzalutamideSubstitutes | Malignant Prostate Neoplasm | Predictive | B | Does Not Support Resistance | 4 | submitted | EID9578In a clinical study including 168 patients treated with abiraterone or enzalutamide, a multivariate analysis including tumor burden and TP53 status show no significant correlation between AR-V1, AR-V2… (full text at CIViC) PMID 30209161 · De Laere et al., 2019 · Open in CIViC | civic |
| AR AR-V715 | ||||||||
| (prognostic) | Malignant Prostate Neoplasm | Prognostic | B | Supports Poor Outcome | 3 | submitted | EID12376Analysis was performed on 224 advanced prostate cancer (PCA) patient samples which had clinical outcome information. Elevated PSA levels in patients after radical prostatectomy are associated with me… (full text at CIViC) PMID 19244107 · Guo et al., 2009 · Open in CIViC | civic |
| (oncogenic) | Malignant Prostate Neoplasm | Oncogenic | D | Supports Oncogenicity | 4 | accepted | EID12258Using a panel of three androgen-insensitive prostate cancer cell lines (C-81, CWR-R1 and 22Rv1), a novel AR protein isoform was identified. This protein was found to be encoded by three novel alternat… (full text at CIViC) PMID 19244107 · Guo et al., 2009 · Open in CIViC | civic |
| 〃 | Malignant Prostate Neoplasm | Oncogenic | D | Supports Oncogenicity | 4 | |||
Data updated 3 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.
| A |
| Supports Sensitivity Response |
| 4 |
| submitted |
EID11286In this phase II, open-label, single-arm trial, 276 patients with a histologically or cytologically confirmed diagnosis of metastatic non-small-cell lung cancer that carried either an ALK or ROS1 gene… (full text at CIViC) PMID 30413378 · Solomon et al., 2018 · Open in CIViC |
| civic |
EID4795In an in vitro study, a FL5.12 cell line expressing NPM1-ALK (a known sensitizing alteration to crizotinib) and an ALK R1192P co-mutation, demonstrated resistance to crizotinib treatment (IC50: 421.5 … (full text at CIViC) PMID 27009859 · Amin et al., 2016 · Open in CIViC |
| civic |
PMID 18923525 · George et al., 2008 · Open in CIViC
| civic |
| Crizotinib | Neuroblastoma | Predictive | B | Supports Sensitivity Response | — | rejected | EID2341Activating mutations in the (ALK) gene are targeted by the dual-specific tyrosine kinase inhibitor crizotinib. The amino acid substitution R1275Q resulted in an improved response to crizotinib. PMID 22072639 · Bresler et al., 2011 · Open in CIViC | civic |
| 〃 | Neuroblastoma | Predictive | B | Supports Sensitivity Response | — | submitted | EID2342Activating mutations in the (ALK) gene are targeted by the dual-specific tyrosine kinase inhibitor crizotinib. The amino acid substitution R1275Q resulted in an improved response to crizotinib. The am… (full text at CIViC) PMID 21838707 · Schönherr et al., 2011 · Open in CIViC | civic |
| 〃 | Neuroblastoma | Predictive | C | Supports Sensitivity Response | 2 | accepted | EID1269This Phase I study of crizotinib involved a cohort of pediatric neuroblastoma patients between ages 12 months and 22 years. In 11 patients with characterized ALK mutations, 4 had R1275Q mutations, and… (full text at CIViC) PMID 23598171 · Mossé et al., 2013 · Open in CIViC | civic |
| 〃 | Neuroblastoma | Predictive | C | Supports Sensitivity Response | 2 | accepted | EID1270A cohort of pediatric neuroblastoma patients ages 12 months to 22 years were assessed for response to crizotinib in a Phase I study. 11 patients in this cohort had characterized ALK mutations, 4 of w… (full text at CIViC) PMID 23598171 · Mossé et al., 2013 · Open in CIViC | civic |
| 〃 | Neuroblastoma | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID143Cells lines expressing ALK harboring the F1174L mutation are less sensitive to growth inhibition by crizotinib than cells expressing the R1275Q mutation. PMID 22072639 · Bresler et al., 2011 · Open in CIViC | civic |
| Lorlatinib | Neuroblastoma | Predictive | D | Supports Sensitivity Response | 4 | accepted | EID1331In NB-1643 and LAN-5 neuroblastoma cell lines containing R1275Q mutation, PF-06463922 showed 51 and 19 fold greater effect on cell viability over crizotinib treatment respectively. ALK wild-type neuro… (full text at CIViC) PMID 26554404 · Infarinato et al., 2016 · Open in CIViC | civic |
| 3 |
| accepted |
EID445Canonical Wnt signaling in colon carcinoma cells with APC mutation was inhibited by JW55 treatment. PMID 22440753 · Waaler et al., 2012 · Open in CIViC |
| civic |
| Regorafenib | Malignant Colorectal NeoplasmCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 2 | submitted | EID13262In a retrospective analysis of 76 patients with refractory metastatic colorectal cancer treated with regorafenib, APC mutations were detected in approximately 57% of tumors and were significantly asso… (full text at CIViC) PMID 33224274 · Lee et al., 2020 · Open in CIViC | civic |
| 3 |
| accepted |
EID40Sorafenib can inhibit ARF-mediated MEK phosphorylation and soft agar colony formation of AALE cells expressing ARAF S214C in vitro. PMID 24569458 · Imielinski et al., 2014 · Open in CIViC |
| civic |
| Trametinib | Lung Non-Small Cell CarcinomaCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID41Trametinib can inhibit ARF-mediated ERK phosphorylation and soft agar colony formation of AALE cells expressing ARAF S214C in vitro. PMID 24569458 · Imielinski et al., 2014 · Open in CIViC | civic |
| accepted |
EID12259Seven novel AR isoforms were identified through the examination of cryptic exon splicing at exon 3 of the AR gene. All seven isoforms encode truncated AR proteins, lacking the ligand binding domain. T… (full text at CIViC) PMID 19117982 · Hu et al., 2009 · Open in CIViC |
| civic |
| 〃 | Malignant Prostate Neoplasm | Oncogenic | D | Supports Oncogenicity | 4 | accepted | EID12465To compare the activity of AR-V7 with that of full-length AR (AR-FL) lentiviral stable cell lines of castrate-resistant prostate cancer were generated that expressed doxycycline-regulated AR-V7 or AR-… (full text at CIViC) PMID 38687617 · Han et al., 2024 · Open in CIViC | civic |
| Abiraterone Acetate | Malignant Salivary Gland NeoplasmALIAS | Predictive | C | Supports Resistance | 2 | submitted | EID6954Case Report of a Patient with metastatic salivary gland cancer with androgen receptor overexpression under treatment with abiraterone. The patient experienced stable disease for 6 months. Analysis of … (full text at CIViC) PMID 29897400 · Cappelletti et al., 2018 · Open in CIViC | civic |
| Abiraterone + EnzalutamideSubstitutes | Malignant Prostate Neoplasm | Predictive | B | Supports Resistance | 4 | accepted | EID9547This multicenter clinical trial study (PROPHECY) enrolled 118 patients with metastatic castration-resistant prostate cancers (CRPC) on Abiraterone or Enzalutamide treatment. The Johns Hopkins Universi… (full text at CIViC) PMID 30865549 · Armstrong et al., 2019 · Open in CIViC | civic |
| 〃 | Malignant Prostate Neoplasm | Predictive | B | Supports Resistance | 4 | submitted | EID9553In a prospective clinical trial including 149 patients starting abiraterone or enzalutamide treatment AR-V7 expression is associated with worse PSA PFS, PFS and OS ( p < 0.001) in the overall cohort (… (full text at CIViC) PMID 28384066 · Antonarakis et al., 2017 · Open in CIViC | civic |
| 〃 | Malignant Prostate Neoplasm | Predictive | B | Supports Resistance | 4 | accepted | EID12463A cross-sectional cohort study was performed in 161 men with metastatic prostate cancer undergoing a change in treatment to determine if pre-therapy AR-V7 nuclear protein expression in circulating tum… (full text at CIViC) PMID 27262168 · Scher et al., 2016 · Open in CIViC | civic |
| 〃 | Malignant Prostate Neoplasm | Predictive | B | Supports Resistance | 4 | accepted | EID12464A blinded, multi-institutional cohort study was performed in 142 men with metastatic, castration-resistant prostate cancer to determine if pre-therapy nuclear-localized expression of AR-V7 protein in … (full text at CIViC) PMID 29955787 · Scher et al., 2018 · Open in CIViC | civic |
| 〃 | Malignant Prostate Neoplasm | Predictive | B | Does Not Support Resistance | 3 | submitted | EID9548A clinical study including 37 patients with mCRPC commencing abiraterone or enzalutamide treatment shows no significant changes in PSA PFS response when AR-V7 is expressed (p = 0.4). The same result i… (full text at CIViC) PMID 29398263 · To et al., 2018 · Open in CIViC | civic |
| Cabazitaxel | Malignant Prostate Neoplasm | Predictive | B | Does Not Support Resistance | 4 | submitted | EID9552In a retrospective clinical study including 29 patients treated with cabazitaxel, AR-V7 expression is not significantly correlated with PSA response change (p = 0.6) or PFS (p = 0.8) or OS (p = 0.4 ).… (full text at CIViC) PMID 26188394 · Onstenk et al., 2015 · Open in CIViC | civic |
| Enzalutamide | Malignant Prostate Neoplasm | Predictive | B | Supports Resistance | 4 | submitted | EID9554In a prospective clinical trial including 28 patients treated with enzalutamide, AR-V7 expression is significantly correlated with primary resistance (p = 0.018). PMID 24882673 · Efstathiou et al., 2015 · Open in CIViC | civic |
| Abiraterone + EnzalutamideSubstitutes | Malignant Prostate Neoplasm | Predictive | B | Supports Resistance | 4 | submitted | EID9555In a prospective clinical trial including 37 patients treated with enzalutamide or abiraterone, AR-V7 expression is significantly associated with non PSA response to any subsequent treatment ( p < 0.0… (full text at CIViC) PMID 31289619 · Steinestel et al., 2019 · Open in CIViC | civic |
| 〃 | Malignant Prostate Neoplasm | Predictive | B | Supports Resistance | 4 | submitted | EID9576In a clinical study including 37 patients treated with taxanes or enzalutamide and abiraterone: - AR-V7 is associated with resistance to enzalutamide and abiraterone, but its relevance in the context … (full text at CIViC) PMID 26181238 · Antonarakis et al., 2015 · Open in CIViC | civic |
| 〃 | Malignant Prostate Neoplasm | Predictive | B | Supports Resistance | 3 | accepted | EID863This prospective study enrolled 31 Enzalutamide-treated (group 1) and 31 Abiraterone-treated (group 2) patients with metastatic castration-resistant prostate cancers (CRPC). AR-V7 variant was detected… (full text at CIViC) PMID 25184630 · Antonarakis et al., 2014 · Open in CIViC | civic |