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 |
|---|---|---|---|---|---|---|---|---|
| TET2 Mutation6 | ||||||||
| (prognostic) | Myelodysplastic SyndromeCURATED_BROADER | Prognostic | B | Supports Better Outcome | 4 | accepted | EID417In patients with myelodysplastic syndromes, those with TET2 mutations have been shown to have better overall survival than patients without TET2 mutations. PMID 19666869 · Kosmider et al., 2009 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Better Outcome | 4 | accepted | EID419In patients with cytogenetically normal acute myeloid leukemia, those in the intermediate-I risk group with TET2 mutations had higher rates of complete remission. PMID 22430270 · Gaidzik et al., 2012 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports N/A | 4 | accepted | EID421In patients with cytogenetically normal acute myeloid leukemia, those in the intermediate-I risk group with TET2 mutations did not have significantly different rates of event-free survival, complete r… (full text at CIViC) PMID 21343549 · Metzeler et al., 2011 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID426In patients classified as intermediate-risk via cytogenetics, TET2 mutations have been shown to be correlated with poor prognosis. PMID 21828143 · Chou et al., 2011 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID427In patients with cytogenetically normal acute myeloid leukemia, those in the ELN favorable-risk group with TET2 mutations had shorter event-free survival, lower rates of complete remission, and shorte… (full text at CIViC) PMID 21343549 · Metzeler et al., 2011 · Open in CIViC | civic |
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11992This 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 |
| TFAP4 mutation1 | ||||||||
| (oncogenic) | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11826Mutations in this gene have been described in several genome-wide studies PMID 30617194 · Grande et al., 2019 · Open in CIViC | civic |
| TFE3 VCP::TFE31 | ||||||||
| (prognostic) | Renal Cell CarcinomaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | rejected | EID10148This study evaluates 200 nephrectomy cases. Within the 200 cases, there are four cases that are Xp11.2 translocation renal cell carcinomas (RCC). Previous studies identified two stages (pediatric and … (full text at CIViC) PMID 34917511 · Ge et al., 2021 · Open in CIViC | civic |
| TFEB Amplification1 | ||||||||
| (prognostic) | Renal Cell Carcinoma with MiT Translocations | Prognostic | B | Supports Poor Outcome | 4 | submitted | EID10625This manuscript is a study of 37 TFEB-altered tumors, 15 of which are associated with TFEB amplification at 6p21.1 and 22 of which are associated with TFEB-rearrangement. Previous literature had indic… (full text at CIViC) PMID 31600176 · Gupta et al., 2019 · Open in CIViC | civic |
| TFF3 EXPRESSION1 | ||||||||
| Aminoglutethimide + TamoxifenSubstitutes | Malignant Breast Neoplasm | Predictive | B | Supports Sensitivity Response | 3 | accepted | EID823TFF3 expression was assessed by IHC in 75 patients, 187 patients were identified for the validation cohort. TFF3 expression was associated with response to endocrine therapy (tamoxifen, aminoglutethim… (full text at CIViC) PMID 25900183 · May et al., 2015 · Open in CIViC | civic |
| ROS1 Fusion3 | ||||||||
| Crizotinib | Inflammatory Myofibroblastic Tumor | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID1444Case report of a pediatric patient with treatment-refactory inflammatory myofibroblastic tumor negative for ALK expression and rearrangement. Next generation sequencing of the patient revealed a TFG-R… (full text at CIViC) PMID 24875859 · Lovly et al., 2014 · Open in CIViC | civic |
| Entrectinib | Inflammatory Myofibroblastic Tumor | Predictive | C | Supports Sensitivity Response | 2 | accepted | EID11860In a phase 1/2 trial of entrectinib in pediatric patients, tumors with fusions in NTRK, ROS1, or ALK had an overall response (ORR) of 57.7% (95% CI; 36.9-76.7). This included a patient with inflammat… (full text at CIViC) PMID 35395680 · Desai et al., 2022 · Open in CIViC | civic |
| 〃 | Inflammatory Myofibroblastic Tumor | Predictive | C | Supports Sensitivity Response | ||||
| TF Loss1 | ||||||||
| Vemurafenib | Melanoma | Predictive | D | Supports Resistance | 3 | submitted | EID6269An in vitro study of M229 (a human melanoma cell line) endogenously expressing wildtype PTEN and BRAF V600E (a known BRAF inhibitor sensitizing mutation) found that PTEN knockdown cells (achieved via … (full text at CIViC) PMID 24265155 · Shi et al., 2014 · Open in CIViC | civic |
| TGFA EXPRESSION1 | ||||||||
| (prognostic) | Head and Neck Squamous Cell Carcinoma | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID785Primary tumors of 91 patients with head and neck squamous cell carcinoma were analyzed for expression of EGFR and TGF-alpha using IHC. Expression of EGFR or TGF-alpha were associated with reduced dise… (full text at CIViC) PMID 9625170 · Rubin Grandis et al., 1998 · Open in CIViC | civic |
| TGFBR3 TGFBR31 | ||||||||
| (diagnostic) | Malignant Prostate Neoplasm | Diagnostic | B | Supports Positive | 3 | submitted | EID7225Genes not previously reported to be significantly mutated in PCa, such as cell division cycle 27 homolog (Saccharomyces cerevisiae) (CDC27), myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), lysine… (full text at CIViC) PMID 23265383 · Lindberg et al., 2013 · Open in CIViC | civic |
| THBS2 UNDEREXPRESSION1 | ||||||||
| (prognostic) | Malignant Colorectal NeoplasmCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID974172 patients treated with neoadjuvant concurrent chemoradiotherapy (CCRT) were retrospectively analyzed for expression of thrombospondin 2 (THBS2) using IHC (discovery set with 46 rectal cancer patien… (full text at CIViC) PMID 26807188 · Lin et al., 2015 · Open in CIViC | civic |
| TIMP1 Overexpression2 | ||||||||
| Fulvestrant | Malignant Breast Neoplasm | Predictive | D | Supports Resistance | 2 | accepted | EID901TIMP1 overexpression was associated with resistance to fulvestrant in breast cancer cell lines. PMID 23881388 · Bjerre et al., 2013 · Open in CIViC | civic |
| Paclitaxel | Malignant Breast Neoplasm | Predictive | B | Supports Resistance | 2 | accepted | EID927High expression of TIMP-1 was assessed by IHC in 99 primary breast cancers that had not spread beyond the breast after 6 postoperative courses of paclitaxel-based chemotherapy. High TIMP1 levels were … (full text at CIViC) PMID 22544540 · Zhu et al., 2012 · Open in CIViC | civic |
| TLK2 Amplification1 | ||||||||
| GF109203X + Go6983Substitutes | Malignant Breast Neoplasm | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID6000TLK2 inhibition selectively inhibits the growth of TLK2-high breast cancer cells, downregulates ERα, BCL2 and SKP2, impairs G1/S cell cycle progression, induces apoptosis and significantly improves pr… (full text at CIViC) PMID 27694828 · Kim et al., 2016 · Open in CIViC | civic |
| BCL11B Fusion1 | ||||||||
| (diagnostic) | T Acute Lymphoblastic LeukemiaCURATED_BROADER | Diagnostic | C | Supports Positive | 3 | submitted | EID8564TLX3, also known as HOX11L2 is a homeobox gene, located on the long arm of chromosome 5. TLX3 is not expressed in normal T-cell development. In this paper, the authors described a "new" cryptic transl… (full text at CIViC) PMID 11587205 · Bernard et al., 2001 · Open in CIViC | civic |
| H-bTMB1 | ||||||||
| Immune Checkpoint Inhibitor | Lung Non-Small Cell CarcinomaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 4 | accepted | EID12724The use of circulating tumor DNA in blood for TMB assessment was tested. The cancer gene panel NCC-GP150, which covers the whole exon regions of 150 genes, was created and tested for correlation again… (full text at CIViC) PMID 30816954 · Wang et al., 2019 · Open in CIViC | civic |
| High28 | ||||||||
| (prognostic) | Malignant Ovarian Neoplasm | Prognostic | B | Supports Better Outcome | 4 | submitted | EID12970This study examined ovarian cancer patients from The Cancer Genomics Atlas totaling 432 patient profiles. Patients were grouped into low and high tumor mutational burden (TMB) groups to examine the pr… (full text at CIViC) PMID 33189611 · Fan et al., 2020 · Open in CIViC | civic |
| 〃 | Low Grade Glioma | Prognostic | B | Supports Poor Outcome | 4 | submitted | EID13062In patients with initially low-grade IDH-mutant gliomas previously treated with temozolomide, a high tumor mutational burden (TMB-high)/temozolomide-associated hypermutator phenotype was associated wi… (full text at CIViC) PMID 33823014 · Yu et al., 2021 · Open in CIViC | civic |
| (diagnostic) | Breast Carcinoma | Diagnostic | B | Supports Positive | 3 | accepted | ||
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.
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EID11862In a phase 1/2 trial of entrectinib in pediatric patients, tumors with fusions in NTRK, ROS1, or ALK had an overall response (ORR) of 57.7% (95% CI; 36.9-76.7). This included a patient with myofibrob… (full text at CIViC) PMID 35395680 · Desai et al., 2022 · Open in CIViC |
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EID13105Tumor mutational burden (TMB) derived from MSK-IMPACT targeted next-generation sequencing was evaluated in 7,894 breast cancers, from which 527 TMB-high tumors from 462 patients were identified. Tumor… (full text at CIViC) PMID 40775459 · Vougiouklakis et al., 2025 · Open in CIViC |
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| (prognostic) | Rectal AdenocarcinomaALIAS | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID13211This study evaluated genomic biomarkers associated with treatment response and clinical outcomes in patients with locally advanced rectal adenocarcinoma (LARC) treated with neoadjuvant chemoradiation … (full text at CIViC) PMID 37260182 · Lee et al., 2023 · Open in CIViC | civic |
| 〃 | Colon Adenocarcinoma | Prognostic | B | Supports Better Outcome | 3 | accepted | EID13242In a single-center observational study of 102 patients with microsatellite stable (MSS) metastatic colon cancer receiving standard treatments, high tumor mutational burden (TMB ≥10 mutations/Mb) was a… (full text at CIViC) PMID 39639373 · Di Mauro et al., 2024 · Open in CIViC | civic |
| (diagnostic) | Malignant Colorectal NeoplasmCURATED_BROADER | Diagnostic | B | Does Not Support Negative | 2 | submitted | EID12971Whole genome sequencing and staining of anti-CD3 and anti-CD8 antibodies were performed on fresh-frozen tissue from 6 Lynch syndrome associated microsatellite (MSI) colorectal cancer patients and 20 M… (full text at CIViC) PMID 41535448 · Martin et al., 2026 · Open in CIViC | civic |
| Atezolizumab | Lung Non-Small Cell CarcinomaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 4 | accepted | EID12587This retrospective study evaluated the clinical utility of blood tumour mutational burden (bTMB) as a predictive biomarker for atezolizumab efficacy in advanced non-small cell lung cancer (NSCLC) who … (full text at CIViC) PMID 30082870 · Gandara et al., 2018 · Open in CIViC | civic |
| Carboplatin + PaclitaxelCombination | Ovarian Serous AdenocarcinomaALIAS | Predictive | C | Supports Resistance | 3 | submitted | EID13010In a retrospective cohort of 16 patients treated with primary debulking surgery followed by platinum-taxane chemotherapy (carboplatin and paclitaxel), patients classified as platinum-resistant exhibit… (full text at CIViC) PMID 35093146 · Yang et al., 2022 · Open in CIViC | civic |
| Chemotherapy + ToripalimabCombination | Lung Non-Small Cell CarcinomaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 4 | accepted | EID12798This is part of a multi-centred, randomised, placebo-controlled phase 3 trial, CHOICE-01, that examined therapeutic response to first-line chemotherapy plus PD-1 inhibitor in non-small cell lung cance… (full text at CIViC) PMID 39255777 · Xu et al., 2024 · Open in CIViC | civic |
| Durvalumab | Head and Neck Squamous Cell Carcinoma | Predictive | B | Supports Sensitivity Response | 3 | accepted | EID12850This retrospective analysis of the Phase 3 EAGLE trial (NCT02369874) evaluated tissue tumor mutational burden (tTMB) and blood TMB (bTMB) as predictive biomarkers in platinum-refractory recurrent or m… (full text at CIViC) PMID 36806911 · Wildsmith et al., 2023 · Open in CIViC | civic |
| Durvalumab + TremelimumabCombination | Malignant Colorectal NeoplasmCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 4 | accepted | EID12042In this randomized phase II trial, 180 patients with microsatellite stable (MSS) colorectal cancer were treated with either a combination of durvalumab and tremelimumab (D+T; n=119) or best supportive… (full text at CIViC) PMID 38727700 · Loree et al., 2024 · Open in CIViC | civic |
| 〃 | Lung Non-Small Cell CarcinomaCURATED_BROADER | Predictive | B | Does Not Support Sensitivity Response | 3 | accepted | EID12799This is part of a open-label phase 3 trial, NEPTUNE, that examined therapeutic response to first-line durvalumab plus tremelimumab in patients with metastatic non-small cel lung cancer (NSCLC). 823 pa… (full text at CIViC) PMID 36240972 · de Castro et al., 2023 · Open in CIViC | civic |
| Durvalumab/Tremelimumab Regimen | Lung Non-Small Cell CarcinomaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 5 | accepted | EID12822The MYSTIC study compared response rates for immunotherapy verses chemotherapy. Specifically looking at the efficacy of the anti-PD-L1 therapy, durvalumab, with/without the anti-CTLA-4 therapy, tremel… (full text at CIViC) PMID 33355200 · Si et al., 2021 · Open in CIViC | civic |
| 〃 | Lung Non-Small Cell CarcinomaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 3 | accepted | EID12760This exploratory analysis of the Phase 3 MYSTIC trial (NCT02453282) evaluated blood tumour mutational burden (bTMB) as a predictive biomarker for first-line durvalumab with or without tremelimumab vs … (full text at CIViC) PMID 32271377 · Rizvi et al., 2020 · Open in CIViC | civic |
| Immune Checkpoint Inhibitor | Lung Non-Small Cell CarcinomaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 4 | submitted | EID13061This retrospective study evaluated the predictive value of tumor mutational burden (TMB) for immune checkpoint inhibitor (ICI) outcomes in 97 patients with stage IV non-small cell lung cancer who had … (full text at CIViC) PMID 38950679 · Di Federico et al., 2024 · Open in CIViC | civic |
| 〃 | Triple-Negative Breast CarcinomaALIAS | Predictive | E | Supports N/A | 3 | submitted | EID12950This review synthesizes current preclinical, translational, and clinical evidence evaluating tumor mutational burden (TMB) as a predictive biomarker for immune checkpoint inhibitor (ICI) response in t… (full text at CIViC) PMID 41249701 · Das et al., 2025 · Open in CIViC | civic |
| 〃 | Triple-Negative Breast CarcinomaALIAS | Predictive | E | Supports Sensitivity Response | 2 | accepted | EID13213TMB is being investigated as a predictive biomarker for response to immune checkpoint inhibitors (ICIs) in triple-negative breast cancer (TNBC). TMB is defined as the number of somatic mutations per m… (full text at CIViC) PMID 41249701 · Das et al., 2025 · Open in CIViC | civic |
| Immunotherapy | Lung Non-Small Cell CarcinomaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 3 | submitted | EID13032A retrospective cohort study was performed with advanced NSCLC patients who had prior immunotherapy with available genomic testing, and TMB determined by NGS via the Foundation Medicine assay. 87 pati… (full text at CIViC) PMID 33972172 · Kao et al., 2021 · Open in CIViC | civic |
| 〃 | Urothelial Carcinoma | Predictive | B | Supports Sensitivity Response | 3 | accepted | EID13302This is a retrospective cohort study examining the association between tumour mutational burden (TMB) and clinical benefit from first-line single-arm immune checkpoint inhibitor (ICPI) therapy compare… (full text at CIViC) PMID 35977348 · Graf et al., 2022 · Open in CIViC | civic |
| Ipilimumab | Melanoma | Predictive | B | Supports Sensitivity Response | 3 | submitted | EID12036Tumors from a cohort of melanoma patients were analyzed with whole exome sequencing. Median nonsynonymous exonic mutational load was 197 mutations per sample (range: 7 to 5854). The cohort was stratif… (full text at CIViC) PMID 26359337 · Van Allen et al., 2015 · Open in CIViC | civic |
| Ipilimumab/Nivolumab Regimen | Lung Non-Small Cell CarcinomaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 4 | rejected | EID12612This part of the open-label multipart phase 3 trial, CheckMate 277 (Trial ID: 29658845), examined the performance of nivolumab plus ipilimumab compared to chemotherapy among non-small-cell lung cancer… (full text at CIViC) PMID 29658845 · Hellmann et al., 2018 · Open in CIViC | civic |
| 〃 | Lung Adenocarcinoma | Predictive | B | Supports Sensitivity Response | 4 | accepted | EID12614This part of the open-label multipart phase 3 trial, CheckMate 277 (Trial ID: 29658845), examined the performance of nivolumab plus ipilimumab compared to chemotherapy among non-small-cell lung cancer… (full text at CIViC) PMID 29658845 · Hellmann et al., 2018 · Open in CIViC | civic |
| 〃 | Lung Non-Small Cell CarcinomaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 4 | accepted | EID13103Whole-exome sequencing-derived tumor mutational burden (TMB) was obtained from 75 patients recruited as part of the the CheckMate-012 trial (phase 1, open label, multicenter clincal trial of nivolumab… (full text at CIViC) PMID 29657128 · Hellmann et al., 2018 · Open in CIViC | civic |
| 〃 | Lung Non-Small Cell CarcinomaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 3 | accepted | EID12588This retrospective analysis assessed the association between tumor mutational burden (TMB) and the efficacy of nivolumab plus low-dose ipilimumab as first-line treatment for advanced/metastatic non-sm… (full text at CIViC) PMID 30785829 · Ready et al., 2019 · Open in CIViC | civic |
| Nivolumab | Lung Non-Small Cell CarcinomaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 3 | submitted | EID12967In an exploratory analysis of the phase III CheckMate 026 trial in previously untreated stage IV or recurrent non-small-cell lung cancer, patients with high tumor mutational burden (≥243 missense muta… (full text at CIViC) PMID 28636851 · Carbone et al., 2017 · Open in CIViC | civic |
| PD1 Inhibitor | Head and Neck Squamous Cell Carcinoma | Predictive | B | Supports Sensitivity Response | 3 | accepted | EID13241This observational cohort study assessed the association between total mutational burden (TMB) and the efficacy of anti-PD-1/L1 therapy in head and neck squamous cell carcinoma. Using large comprehens… (full text at CIViC) PMID 29467336 · Hanna et al., 2018 · Open in CIViC | civic |
| PD1 Inhibitor + PD-L1 InhibitorSubstitutes | Lung Non-Small Cell CarcinomaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 4 | accepted | EID12586High Tumor Mutation Burden (TMB >19 mutations/Mb) represents a robust and platform-validated genomic biomarker predictive of clinical benefit from PD-1/PD-L1 immune checkpoint blockade in non–small ce… (full text at CIViC) PMID 35708671 · Ricciuti et al., 2022 · Open in CIViC | civic |
| Pembrolizumab | Solid NeoplasmCURATED_BROADER | Predictive | A | Supports Sensitivity Response | 4 | submitted | EID12082In this non-randomized phase 2 KEYNOTE-158 trial 1066 patients with solid tumours and tumour mutation burden (TMB) >=10 mutations/Mb were treated with anti-PD1 antibody pembrolizumab. Of 790 patients … (full text at CIViC) PMID 32919526 · Marabelle et al., 2020 · Open in CIViC | civic |