Cancer Family
Neoplasm
CI-CAN-00000001Explore in graph →
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Cancer Family
CI-CAN-00000001Explore in graph →
Variants & evidence
8,147 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 |
|---|---|---|---|---|---|---|---|---|
| High7 | ||||||||
| Pembrolizumab | Lung Non-Small Cell CarcinomaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 4 | accepted | EID12083Exomes were sequenced from two cohorts of non small cell lung cancer patients who were treated with pembrolizumab. In a discovery cohort of 16 patients, durable clinical benefit (DCB - partial or stab… (full text at CIViC) PMID 25765070 · Rizvi et al., 2015 · Open in CIViC | civic |
| 〃 | Solid NeoplasmCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 4 | submitted | EID12086A retrospective analysis from three cancer centres in China examined the use of pembrolizumab, as monotherapy or combined with chemotherapy, in 116 patients with MSI-high or TMB-high advanced solid tu… (full text at CIViC) PMID 38451314 · Yan et al., 2024 · Open in CIViC | civic |
| 〃 | Solid NeoplasmCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 4 | accepted | EID12594This study analyzed over 300 patient with advanced solid tumors and melanoma across 22 tumor types from four KEYNOTE clinical trials to define genomic and immune predictors of response to pembrolizuma… (full text at CIViC) PMID 30309915 · Cristescu et al., 2018 · Open in CIViC | civic |
| 〃 | Malignant Colorectal NeoplasmCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 1 | accepted | EID12574Microsatellite instability-high (MSI-H) colorectal cancers (CRC) respond to immune checkpoint inhibitors (ICPIs), but response rates vary, often < 50%, highlighting the need for better stratification.… (full text at CIViC) PMID 31038663 · Schrock et al., 2019 · Open in CIViC | civic |
| Ipilimumab + Lenvatinib + PembrolizumabCombination | Adrenal Cortical CarcinomaALIAS | Predictive | C | Supports Sensitivity Response | 2 | accepted | EID13303A 54-year-old female with recurrent stage IV ACC that progressed after adrenalectomy, radiation, and mitotane had a TMB-high (11.6 mutations/Mb), MSS, PD-L1-negative tumor with a markedly clonal molec… (full text at CIViC) PMID 42158873 · Nakhleh et al., 2026 · Open in CIViC | civic |
| Pembrolizumab/Pemetrexed Regimen | Lung Non-Small Cell CarcinomaCURATED_BROADER | Predictive | B | Does Not Support Sensitivity Response | 3 | accepted | EID12851This analysis of the Phase 2 KEYNOTE-782 trial (NCT03664024) evaluated the correlation of blood tumor mutational burden (bTMB) with the efficacy of first-line pembrolizumab plus platinum-based chemoth… (full text at CIViC) PMID 38422883 · Bar et al., 2024 · Open in CIViC | civic |
| Temozolomide | Pancreatic Neuroendocrine Tumor | Predictive | B | Supports Sensitivity Response | 3 | submitted | EID13033Temozolomide (TMZ), the principal alkylating agent used in PanNET, drives acquisition of a hypermutator phenotype through direct mutagenesis. In a paired pre/post-TMZ cohort (23 patients), a hypermuta… (full text at CIViC) PMID 41244370 · Taboada et al., 2025 · Open in CIViC | civic |
| Low1 | ||||||||
| Nivolumab | Malignant Mesothelioma | Predictive | B | Does Not Support Sensitivity Response | 1 | accepted | EID12918This is part of a randomised phase 3 trial, CheckpOiNt Blockade For the Inihibition of Relapsed Mesothelioma (CONFIRM), that examined therapeutic response to the anti-PD1 inhibitor, nivolumab, in pati… (full text at CIViC) PMID 40691143 · Fennell et al., 2025 · Open in CIViC | civic |
| Low on-treatment bTMB1 | ||||||||
| Camrelizumab + Carboplatin/Paclitaxel RegimenCombination | Lung Squamous Cell Carcinoma | Predictive | B | Supports Sensitivity Response | 4 | accepted | EID12919This is part of the randomised double-blind phase 3 trial, CameL-sq, a study that assessed the therapeutic effectiveness of the PD-1 blockade, camrelizumab plus chemotherapy as first-line treatment in… (full text at CIViC) PMID 34980131 · Jiang et al., 2022 · Open in CIViC | civic |
| ERG Fusion1 | ||||||||
| (diagnostic) | Prostate Carcinoma | Diagnostic | B | Supports Positive | 3 | accepted | EID476TMPRSS2/ERG gene fusion was observed in 23 of 29 (79%) of prostate carcinoma samples, and 90% of ERG expression positive prostate carcinoma samples. PMID 16254181 · Tomlins et al., 2005 · Open in CIViC | civic |
| ETV1 Fusion1 | ||||||||
| (diagnostic) | Malignant Prostate Neoplasm | Diagnostic | C | Supports Positive | 4 | submitted | EID7644TMPRSS2-ETV1 fusions are recurrent in prostate cancers. PMID 16254181 · Tomlins et al., 2005 · Open in CIViC | civic |
| TMPRSS2 TMPRSS2::ERG1 | ||||||||
| (diagnostic) | Malignant Prostate Neoplasm | Diagnostic | B | Supports Positive | 4 | rejected | EID1755Non-invasive detection of multiple TMPRSS2:ERG fusion mutations in urine samples of patients with prostate cancer. Rapid 60 minute screening using DNA ligase and isothermal amplification to detect m… (full text at CIViC) PMID 27865106 · Koo et al., 2017 · Open in CIViC | civic |
| TMSB4X Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11998The authors analyzed 96 diffuse large B-cell lymphomas and identified several recurrently mutated genes PMID 28327945 · Albuquerque et al., 2017 · Open in CIViC | civic |
| TNC TNC-L2 | ||||||||
| (prognostic) | Malignant Pancreatic Neoplasm | Prognostic | B | Supports Poor Outcome | 4 | submitted | EID9604In a clinical study including 106 patients, over expression of TNC-L is significantly associated with decreased OS by a multivariate analysis (p = 0.0005). PMID 31463696 · Hagiwara et al., 2020 · Open in CIViC | civic |
| Gemcitabine | Malignant Pancreatic Neoplasm | Predictive | D | Supports Resistance | 4 | submitted | EID9603In an in vitro study, an increased gemcitabine IC50 significantly correlated with increased concentration of TNfnA-D (TNC-L). Resistance reached a platform at 20 ug/ml (p < 0.01). PMID 20686216 · Gong et al., 2010 · Open in CIViC | civic |
| TNFAIP3 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11991Focusing on ABC DLBCL, the authors showed that >50% of cases have somatic mutations in regulators of NF-KB with TNFAIP3 among the most common. PMID 19412164 · Compagno et al., 2009 · Open in CIViC | civic |
| TNFRSF14 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11909This study used a combination of RNA-seq, whole genome and targeted sequencing to identify recurrently mutated genes in follicular and diffuse large B-cell lymphoma. They reported 30 genes that had si… (full text at CIViC) PMID 21796119 · Morin et al., 2011 · Open in CIViC | civic |
| TNFRSF17 Gain1 | ||||||||
| (oncogenic) | Multiple Myeloma | Oncogenic | B | Supports Oncogenicity | 1 | submitted | EID9226Low coverage WGS and WES was performed on 752 multiple myleoma patients. Structural variants (copy number gains, templated insertions, and or translocations) of TNFRS17 were found in 19 (2.5%) patient… (full text at CIViC) PMID 33392515 · Rustad et al., 2020 · Open in CIViC | civic |
| PDGFRB Fusion1 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Does Not Support Positive | 1 | submitted | EID11626B-ALL cases with high-risk clinical features or suggestion of a kinase rearrangement were subjected to low density gene expression array to determine Ph-like status. 1 patient (6 years old) with a TN… (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC | civic |
| PDGFRA Fusion1 | ||||||||
| Imatinib | Myeloid/Lymphoid Neoplasms with Eosinophilia and Tyrosine Kinase Gene FusionsALIAS | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID1838A patient harbouring a novel TNKS2–PDGFRA fusion in a myeloid neoplasm with eosinophilia demonstrated a dramatic and durable response upon treatment with Imatinib mono therapy. PMID 25658984 · Chalmers et al., 2015 · Open in CIViC | civic |
| ABL1 Fusion1 | ||||||||
| (oncogenic) | T Acute Lymphoblastic LeukemiaCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 3 | submitted | EID13210This retrospective study of COG ALL cases from a 5 year period identified 10 of 40 T-ALL cases with an ABL1 rearrangement. One 3 year old patient had a novel complex rearrangement between TNRC6B and A… (full text at CIViC) PMID 30803551 · Papenhausen et al., 2019 · Open in CIViC | civic |
| TOP1 Amplification2 | ||||||||
| Cetuximab + FOLFIRI RegimenCombination | Malignant Colorectal NeoplasmCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 4 | accepted | EID12143The OncoBird framework utilizes data from the open-label, randomized phase III FIRE-3 trial, which involved patients with metastatic colorectal carcinoma who received either cetuximab or bevacizumab i… (full text at CIViC) PMID 37666855 · Ohnmacht et al., 2023 · Open in CIViC | civic |
| Irinotecan | Malignant Colorectal NeoplasmCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 1 | accepted | EID888FFPE tumor samples from 78 patients with colorectal cancer, who had received irinotecan monotherapy were analyzed with a FISH dual-probe. TOP1 gain was nonsignificantly associated with objective respo… (full text at CIViC) PMID 24256029 · Nygård et al., 2014 · Open in CIViC | civic |
| TOP1 -122fs + TOP1 E418K1 | ||||||||
| Sacituzumab Govitecan | Triple-Negative Breast CarcinomaALIAS | Predictive | C | Supports Resistance | 3 | submitted | EID12266TOP1 E418K mutation and TOP1 122fs contribute to acquired resistance to Sacituzumab Govitecan (SG) therapy through alterations in the drug target TOP1. The patient, a 42-year-old female with metastati… (full text at CIViC) PMID 34404686 · Coates et al., 2021 · Open in CIViC | civic |
| TOP1 EXPRESSION2 | ||||||||
| Carboplatin + Cyclophosphamide + TopotecanCombination | Malignant Ovarian Neoplasm | Predictive | B | Supports Sensitivity Response | 2 | accepted | EID910Shorter progression free survival was observed in patients with low expression (IHC) of topoisomerase 1 in 16 patients with relapsed or persistent ovarian or peritoneal carcinoma after treatment with … (full text at CIViC) PMID 19648970 · Litzow et al., 2010 · Open in CIViC | civic |
| Irinotecan | Malignant Colorectal NeoplasmCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 3 | accepted | EID912498 patients were retrospectively analyzed for topoisomerase 1 expression (IHC). In the subgroup of patients treated with irinotecan (38% of the 498), those patients expressing Topoisomerase I had a b… (full text at CIViC) PMID 19775480 · Kostopoulos et al., 2009 · Open in CIViC | civic |
| TOP2A EXPRESSION1 | ||||||||
| Doxorubicin | Malignant Breast Neoplasm | Predictive | B | Supports Sensitivity Response | 2 | accepted | EID909In a retrospective study, TOP2A expression was assessed by IHC for 108 breast cancer patients (from TAX 303 trial). TOP2A expression was associated with a higher probability of response in doxorubicin… (full text at CIViC) PMID 15486187 · Durbecq et al., 2004 · Open in CIViC | civic |
| TOP2A TOP2A/902 | ||||||||
| Etoposide | Leukemia | Predictive | D | Supports Resistance | 4 | submitted | EID9634In an in vitro study, leukemia cells expressing TOP2A/90 show increased inhibition (p < 0.025) upon KD of TOP2A/90 when treated with etoposide. Moreover cells expressing TOP2A/170 but not TOP2A/90 sho… (full text at CIViC) PMID 29514855 · Kanagasabai et al., 2018 · Open in CIViC | civic |
| 4'-(9-acridinylamino)methanesulfon-m-anisidide + DVP Regimen + Etoposide + MVT Regimen + PixantroneSubstitutes | Leukemia | Predictive | D | Supports Resistance | 4 | submitted | EID9635In an in vitro study, leukemia cells expressing TOP2A/90 show increased IC50 compared to leukemia cells underexpressing TOP2A/90 when treated with etoposide, daunorubicin, mAMSA, mitoxantrone and pixa… (full text at CIViC) PMID 33446509 · Hernandez et al., 2021 · Open in CIViC | civic |
| TOX Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11993This study reportedly sequenced 1001 DLBCL tumors using whole exome sequencing. They reported 150 recurrently mutated genes. Some concerns about the validity of the results have been expressed in subs… (full text at CIViC) PMID 28985567 · Reddy et al., 2017 · Open in CIViC | civic |
| TP53 ALTERATION3 | ||||||||
| (prognostic) | Malignant Ovarian Neoplasm | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID3014In a study of invasive ovarian carcinoma patients who had undergone surgery, the p53 alteration variant was defined as p53 mutation or p53 overexpression by immunostain (>10% positive). Patients with … (full text at CIViC) PMID 11595686 · Reles et al., 2001 · Open in CIViC | civic |
| 〃 | Rhabdomyosarcoma | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID9594This study evaluated 641 cases of rhabdomyosarcoma (RMS) that were enrolled in the Children’s Oncology Group (COG) trials from 1998 to 2017 and the UK malignant mesenchymal tumor and RMS2005 trails fr… (full text at CIViC) PMID 34166060 · Shern et al., 2021 · Open in CIViC | civic |
| Carboplatin + CisplatinSubstitutes | Malignant Ovarian Neoplasm | Predictive | B | Supports | ||||
| TP53BP1 D353E1 | ||||||||
| (predisposing) | Malignant Lung Neoplasm | Predisposing | E | N/A N/A | 2 | submitted | EID8046UK Caucasians were enrolled in a large-scale GWAS study looking for loci associated with lung cancer susceptibility (1529 cases and 2707 controls). Of 64 nonsynonymous, single nucleotide polymorphisms… (full text at CIViC) PMID 16741161 · Rudd et al., 2006 · Open in CIViC | civic |
| TP53 C135F1 | ||||||||
| MDM2 Inhibitor AMGMDS3 | Malignant NeoplasmALIAS | Predictive | D | Supports Resistance | 3 | submitted | EID10076A subset of 58 cancer cell lines with unaltered TP53 are sensitive to MDM2 inhibitor AMGMDS3. None of 115 cancer cell lines with TP53 mutation and absence of WT allele are sensitive to MDM2 inhibitor.… (full text at CIViC) PMID 25730903 · Saiki et al., 2015 · Open in CIViC | civic |
| TP53 C135fs1 | ||||||||
| MDM2 Inhibitor AMGMDS3 | Malignant NeoplasmALIAS | Predictive | D | Supports Resistance | 3 | submitted | EID10073Subset of 58 cancer cell lines with unaltered TP53 is sensitive to MDM2 inhibitor AMGMDS3. None of 115 cancer cell lines with TP53 mutation and absence of WT allele are sensitive to MDM2 Inhibitor. TP… (full text at CIViC) PMID 25730903 · Saiki et al., 2015 · Open in CIViC | civic |
| TP53 C238Y1 | ||||||||
| (prognostic) | Malignant Breast Neoplasm | Prognostic | E | Supports Poor Outcome | 3 | accepted | EID7173Cys-238 was directly bound to zinc molecule. Patients with missense mutations affecting amino acids directly involved in DNA or zinc binding displayed a very aggressive clinical phenotype. When patien… (full text at CIViC) PMID 11051239 · Alsner et al., 2000 · Open in CIViC | civic |
| TP53 CONSERVED DOMAIN MUT1 | ||||||||
| (prognostic) | Malignant Ovarian Neoplasm | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID2993Patients with conserved domain p53 mutation (n=61) were compared with those with wild type or non-conserved domain p53 mutation (n=117) in a cohort of 178 invasive ovarian carcinoma patients who had u… (full text at CIViC) PMID 11595686 · Reles et al., 2001 · Open in CIViC | civic |
| TP53 D281G1 | ||||||||
| (oncogenic) | Malignant NeoplasmALIAS | Oncogenic | D | Supports Oncogenicity | 3 | submitted | EID7122Human mutant D281G p53 was stably transfected into the murine fibroblast (10)3 and human osteosarcoma SAOS-2 cell lines, which lack endogenous p53 expression, resulting in viable cells. In contrast, p… (full text at CIViC) PMID 8099841 · Dittmer et al., 1993 · Open in CIViC | civic |
| TP53 Deleterious Mutation7 | ||||||||
| (prognostic) | Lung Non-Small Cell CarcinomaCURATED_BROADER | Prognostic | B | Does Not Support Poor Outcome | 4 | accepted | EID1147Pooled analysis of TP53 mutations (exons 5-8) from 4 randomized trials (IALT, JBR10, CALGB-9633 and ANITA). Mutations (434; 36%) had no prognostic effect (OBS: HROS=0.99; [95%CI 0.77-1.28], p=0.95; HR… (full text at CIViC) PMID 26899019 · Ma et al., 2016 · Open in CIViC | civic |
| 〃 | Head and Neck Squamous Cell Carcinoma | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID517In a study of 74 patients with head and neck squamous cell carcinoma, those with disruptive mutations in TP53 had shorter overall survival and a higher rate of locoregional recurrence than those witho… (full text at CIViC) PMID 22090360 · Skinner et al., 2012 · Open in CIViC | civic |
| Adjuvant Chemotherapy | Lung Non-Small Cell CarcinomaCURATED_BROADER | |||||||
| TP53 DNA Binding Domain Mutation2 | ||||||||
| (prognostic) | Oral Cavity Squamous Cell CarcinomaALIAS | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID641Oral squamous cell carcinoma patients with TP53 mutations in the DNA binding domain (L2, L3 and the LSH motif) have significantly reduced cumulative survival when compared to patients with TP53 mutati… (full text at CIViC) PMID 12509970 · Yamazaki et al., 2003 · Open in CIViC | civic |
| Tamoxifen | Malignant Breast Neoplasm | Predictive | B | Supports Resistance | 3 | accepted | EID2783In a study 202 breast cancer patients undergoing first line tamoxifen treatment, 65 patients had mutations in TP53. Among the p53 wild type population a 66% response rate was reported, where response … (full text at CIViC) PMID 10786679 · Berns et al., 2000 · Open in CIViC | civic |
| TP53 G244R1 | ||||||||
| MDM2 Inhibitor AMGMDS3 | Malignant NeoplasmALIAS | Predictive | D | Supports Resistance | 3 | submitted | EID10072Subset of 58 cancer cell lines with unaltered TP53 is sensitive to MDM2 inhibitor AMGMDS3. None of 115 cancer cell lines with TP53 mutation and absence of WT allele are sensitive to MDM2 Inhibitor. TP… (full text at CIViC) PMID 25730903 · Saiki et al., 2015 · Open in CIViC | civic |
| TP53 G245S1 | ||||||||
| MDM2 Inhibitor AMGMDS3 | Malignant NeoplasmALIAS | Predictive | D | Supports Resistance | 4 | accepted | EID4883Subset of 58 cancer cell lines with unaltered TP53 is sensitive to MDM2 Inhibitor AMGMDS3. None of 115 cancer cell lines with TP53 mutation and absence of WT allele are sensitive to MDM2 Inhibitor. TP… (full text at CIViC) PMID 25730903 · Saiki et al., 2015 · Open in CIViC | civic |
Data updated 22 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.
| 4 |
| accepted |
EID2771In a group of patients with invasive ovarian carcinoma who had undergone surgery, a subset of 74 patients treated with platinum based chemotherapy were assessed for p53 alteration (p53 mutation or p5… (full text at CIViC) PMID 11595686 · Reles et al., 2001 · Open in CIViC |
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| Predictive |
| B |
| Does Not Support Sensitivity Response |
| 2 |
| accepted |
EID1148Pooled analysis of TP53 mutations (exons 5-8) from 4 randomized trials (IALT, JBR10, CALGB-9633 and ANITA) of platinum-based adjuvant chemotherapy (ACT) versus observation (OBS). Patients with TP53wt … (full text at CIViC) PMID 26899019 · Ma et al., 2016 · Open in CIViC |
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| MDM2 Inhibitor AMGMDS3 | Malignant NeoplasmALIAS | Predictive | D | Supports Resistance | 4 | accepted | EID2967MDM2 Inhibitor screen in a panel of 260 cancer cell lines with well characterized TP53 status shows that only cancer cell lines with unaltered TP53 may be sensitive to MDM2 Inhibitor AMGMDS3, while th… (full text at CIViC) PMID 25730903 · Saiki et al., 2015 · Open in CIViC | civic |
| Pazopanib | Sarcoma | Predictive | B | Supports Sensitivity Response | 2 | accepted | EID117019 advanced sarcoma patients treated with pazopanib were retrospectively assessed for mutations associated with response using the Foundation one sarcoma/heme panel. Progression-free survival (PFS) of… (full text at CIViC) PMID 26646755 · Koehler et al., 2016 · Open in CIViC | civic |
| Rebemadlin | Malignant NeoplasmALIAS | Predictive | D | Supports Resistance | 4 | accepted | EID2968MDM2 Inhibitor Nutlin-3a induced senescence in presence of functional TP53 in murine primary fibroblasts, oncogenically transformed fibroblasts, and fibrosarcoma cell lines. TP53 mutant cells lacking … (full text at CIViC) PMID 17671205 · Efeyan et al., 2007 · Open in CIViC | civic |
| RG7112 | Leukemia | Predictive | B | Supports Resistance | 3 | accepted | EID2966Phase I Trial of MDM2 inhibitor RG7112 in 116 patients with AML, ALL, CML, CLL, sCLL demonstrated sustained clinical improvement and induction of TP53 target genes in subset of patients with wild type… (full text at CIViC) PMID 26459177 · Andreeff et al., 2016 · Open in CIViC | civic |