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 |
|---|---|---|---|---|---|---|---|---|
| JAK2 Fusion1 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 3 | accepted | EID7674In the study involving 1725 B-ALL patients, 264 were identified by microarray-based algorithm to have a Ph-like expression signature. Next generation sequencing (RNAseq, WGS, and/or WES) performed on … (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC | civic |
| ALK Fusion1 | ||||||||
| Ceritinib | Colon Adenocarcinoma | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID5952Patients with metastatic colorectal cancer with STRN-ALK fusion, sporadic microsatellite instability high (MSI-H) and KRAS R164Q received ALK inhibitor ceritinib. After pts received ceritinib perinumb… (full text at CIViC) PMID 26933125 · Yakirevich et al., 2016 · Open in CIViC | civic |
| NTRK2 Fusion1 | ||||||||
| Larotrectinib | Sarcoma | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID6098One Patient with soft tissue sarcoma and a STRN-NTRK2 fusion had a partial Response with larotrectinib. Treatment was done within a multicentre, open-label, phase 1/2 study and enrolled infants, child… (full text at CIViC) PMID 29606586 · Laetsch et al., 2018 · Open in CIViC | civic |
| SUFU Deletion1 | ||||||||
| Sonidegib | MedulloblastomaCURATED_BROADER | Predictive | D | Supports Resistance | 3 | submitted | EID5324In a sonic hedgehog driven medulloblastoma patient derived xenograft harbouring a SUFU deletion, SMO inhibition with LDE225 (Sonidegib) did not affect cell proliferation. PMID 24651015 · Kool et al., 2014 · Open in CIViC | civic |
| SULT1E1 SNP1 | ||||||||
| Abiraterone Acetate | Malignant Prostate Neoplasm | Predictive | B | Supports Resistance | 2 | rejected | EID131268 Caucasian men with metastatic castration resistant prostate cancer underwent treatment with abiraterone acetate. 832 single nucleotide polymorphisms (SNPs, Illumina OmniExpress) of 61 candidate gen… (full text at CIViC) PMID 27150425 · Agarwal et al., 2016 · Open in CIViC | civic |
| SYK OVEREXPRESSION1 | ||||||||
| Paclitaxel | Malignant Ovarian Neoplasm | Predictive | D | Supports Resistance | 3 | accepted | EID752Overexpression and high p-SYK/SYK ratio were associated with resistance to paclitaxel. Inhibition of SYK with R406 resensitized cell lines to paclitaxel. PMID 26096845 · Yu et al., 2015 · Open in CIViC | civic |
| TACSTD2 Overexpression1 | ||||||||
| (prognostic) | Malignant Prostate Neoplasm | Prognostic | B | Supports Poor Outcome | 3 | submitted | EID7837Trop2 (TACSTD2) levels were evaluated from 234 patients who underwent radical prostatectomy. These levels were found to be significantly correlated with recurrence (P=0.01), with 58 patients displayin… (full text at CIViC) PMID 31932422 · Hsu et al., 2020 · Open in CIViC | civic |
| TACSTD2 T256R1 | ||||||||
| Sacituzumab Govitecan | Triple-Negative Breast CarcinomaALIAS | Predictive | B | Supports Resistance | 3 | submitted | EID12265TROP2 T256R mutation alters the plasma membrane localization and cell-surface binding of hRS7, the humanized antibody incorporated into Sacituzumab Govitecan (SG). The TROP2 T256R encoded protein was … (full text at CIViC) PMID 34404686 · Coates et al., 2021 · Open in CIViC | civic |
| ZNF384 Fusion1 | ||||||||
| (diagnostic) | Acute Biphenotypic Leukemia | Diagnostic | C | Supports Positive | 1 | submitted | EID9708A case report of a 74 year old female who was diagnosed with MPAL, B/myeloid with bone marrow blasts were positive for myeloperoxidase, CD19, and CD22. Chromosome analysis showed 46,XX,+1,der(1;18)(q1… (full text at CIViC) PMID 27607436 · Yamamoto et al., 2016 · Open in CIViC | civic |
| TBK1 Overexpression1 | ||||||||
| AZ909 + SelumetinibCombination | Melanoma | Predictive | D | Supports Sensitivity Response | 2 | accepted | EID1138Preclinical study in melanoma cell lines. TBK1 depletion (siRNA) inhibited migration and invasion, whereas its constitutive overexpression led to an increase in invasion. In MEK-resistant NRAS mutant … (full text at CIViC) PMID 24962318 · Vu et al., 2014 · Open in CIViC | civic |
| CSF1R Fusion1 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 3 | accepted | EID9361This study included 1389 cases of high-risk pediatric B-ALL, of which 284 were identified by TaqMan Low Density Array to have a BCR-ABL1-like (Ph-like) gene expression signature. RT-PCR or RNAseq perf… (full text at CIViC) PMID 28408464 · Reshmi et al., 2017 · Open in CIViC | civic |
| TBL1XR1 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11990The authors applied exome sequencing to14 relapsed/refractory (R/R) DLBCL patients and implicated these genes PMID 26608593 · Mareschal et al., 2016 · Open in CIViC | civic |
| TBX2 Expression1 | ||||||||
| (diagnostic) | Poorly Differentiated Chordoma | Diagnostic | B | Supports Positive | 2 | rejected | EID11171All chordomas including 14 conventional chordomas and 7 poorly differentiated chordomas exhibited nuclear expression of brachyury (TBX2) by IHC whereas only 2 of 30 atypical teratoid/rhabdoid tumors w… (full text at CIViC) PMID 27067307 · Hasselblatt et al., 2016 · Open in CIViC | civic |
| TBXT Amplification1 | ||||||||
| (oncogenic) | Chordoma | Oncogenic | D | Supports Oncogenicity | 1 | submitted | EID11173shRNA knockdown of TBXT in the JHC7 chordoma cell line with TBXT amplification resulted in differentiation and growth arrest. PMID 21699479 · Hsu et al., 2011 · Open in CIViC | civic |
| TBXT Expression2 | ||||||||
| (diagnostic) | Poorly Differentiated Chordoma | Diagnostic | B | Supports Positive | 2 | submitted | EID11172All chordomas including 14 conventional chordomas and 7 poorly differentiated chordomas exhibited nuclear expression of brachyury (TBXT) by IHC whereas only 2 of 30 atypical teratoid/rhabdoid tumors w… (full text at CIViC) PMID 27067307 · Hasselblatt et al., 2016 · Open in CIViC | civic |
| Nivolumab | Chordoma | Predictive | C | Supports Sensitivity Response | 3 | submitted | EID12067This pediatric patients harboured a chordoma with high TBXT expression when compared with TCGA and POG570 data, and a high CD8+ infiltration score. The patient was treated with nivolumab, and experien… (full text at CIViC) PMID 34931022 · Williamson et al., 2021 · Open in CIViC | civic |
| TBXT Gain2 | ||||||||
| (oncogenic) | Chordoma | Oncogenic | D | Supports Oncogenicity | 1 | submitted | EID11174Knockdown of TBXT in the U-CH1 chordoma cell line with polysomy of chromosome 6 decreased proliferation and induced a senescence-like phenotype. PMID 21171078 · Presneau et al., 2011 · Open in CIViC | civic |
| 〃 | Chordoma | Oncogenic | D | Supports Oncogenicity | 1 | submitted | EID11175Knockdown of TBXT in the U-CH1 chordoma cell line with polysomy of chromosome 6 decreased proliferation and induced a senescence-like phenotype. PMID 21171078 · Presneau et al., 2011 · Open in CIViC | civic |
| TCF19 EXPRESSION1 | ||||||||
| Birabresib + MirdametinibCombination | Melanoma | Predictive | D | Supports Sensitivity Response | 2 | submitted | EID9314To understand the role of TCF19 expression in NRAS-mutant melanoma, an analysis of a TCGA cutaneous melanoma data set showed that patient survival was inversely correlated with levels of BRD4 and TCF1… (full text at CIViC) PMID 29650805 · Echevarría-Vargas et al., 2018 · Open in CIViC | civic |
| HLF Fusion3 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma with TCF3-HLF RearrangementALIAS | Diagnostic | B | Supports Positive | 3 | accepted | EID12169In this 2018 study the authors investigated B cell precursor acute lymphoblastic leukemia (BCP ALL) RNA-seq data from 1,223 cases enrolled in various clinical trials across multiple centers. The patie… (full text at CIViC) PMID 30487223 · Li et al., 2018 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/Lymphoma with TCF3-HLF RearrangementALIAS | Diagnostic | B | Supports Positive | 3 | accepted | EID12170In this 2023 study the authors investigated the occurrence and spectrum of TCF3 gene rearrangements in 203 patients with B-cell precursor acute lymphoblastic leukemia (BCP-ALL), aged 0-18. The study u… (full text at CIViC) PMID 37058324 · Zerkalenkova et al., 2023 · Open in CIViC | civic |
| 〃 | ||||||||
| TCF3 mutation1 | ||||||||
| (oncogenic) | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11827First described in Schmitz but has been observed in multiple other BL studies PMID 22885699 · Schmitz et al., 2012 · Open in CIViC | civic |
| PBX1 Fusion7 | ||||||||
| (diagnostic) | B Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); TCF3-PBX1ALIAS | Diagnostic | A | Supports Positive | 5 | accepted | EID11771The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours listed TCF3::PBX1 rearrangement in the essential diagnostic criteria for “B-lymphoblastic leukaemia/lymphoma … (full text at CIViC) PMID 35732829 · Alaggio et al., 2022 · Open in CIViC | civic |
| 〃 | B Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); TCF3-PBX1ALIAS | Diagnostic | B | Supports Positive | 4 | rejected | EID11715This is a large cohort study led by St Jude Children's Research Hospital with extensive genome-wide molecular profiles of 2754 children with acute lymphoblastic leukemia(ALL). Consistent with the prof… (full text at CIViC) PMID 36050548 · Brady et al., 2022 · Open in CIViC | civic |
| 〃 | ||||||||
| TEK R849W1 | ||||||||
| Bosutinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | D | Supports Resistance | 2 | submitted | EID7517In an in vitro kinase study, the recombinant TEK R849W mutant kinase demonstrated resistance to bosutinib treatment at concentrations of 1μM and 10μM (activity %: 77 and 35) when compared to wild type… (full text at CIViC) PMID 19039322 · Remsing Rix et al., 2009 · Open in CIViC | civic |
| JAK2 Fusion2 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 4 | submitted | EID7703In B-lymphoblastic leukemia/lymphoma (B-ALL), the presence of this fusion is associated with so-called BCR/ABL1 like (Ph-like) subtype of the disease. The TERF2-JAK2 fusionis rare. This study was cond… (full text at CIViC) PMID 27894077 · Boer et al., 2017 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 3 | accepted | EID7702In the study involving 1725 B-ALL patients, 264 were identified by microarray-based algorithm to have a Ph-like expression signature. Next generation sequencing (RNAseq, WGS, and/or WES) performed on … (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC | civic |
| TERT Amplification1 | ||||||||
| (prognostic) | Acral Lentiginous Melanoma | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID514In patients with acral lentiginous melanoma, those with amplification of TERT had shorter overall survival. PMID 25219713 · Diaz et al., 2014 · Open in CIViC | civic |
| TERT C228T4 | ||||||||
| (prognostic) | Thyroid Gland Papillary CarcinomaALIAS | Prognostic | B | Supports Poor Outcome | 5 | accepted | EID655In patients with papillary thyroid cancer harboring both BRAF V600E and the TERT promotor mutation C228T, recurrence-free survival is worse than in patients harboring one of these mutations or no muta… (full text at CIViC) PMID 25024077 · Xing et al., 2014 · Open in CIViC | civic |
| (diagnostic) | Malignant Thyroid Gland Neoplasm | Diagnostic | B | Supports Positive | 3 | accepted | EID1646In 308 thyroid fine-needle aspiration biopsies, 0 of the 179 benign tumors displayed either the C228T or the C250T TERT promoter mutation; however, 9 of the 129 differentiated thyroid cancers had eith… (full text at CIViC) PMID 25121551 · Liu et al., 2014 · Open in CIViC | civic |
| (prognostic) | GlioblastomaCURATED_BROADER | Prognostic | B | |||||
| TERT C250T1 | ||||||||
| (oncogenic) | GlioblastomaCURATED_BROADER | Oncogenic | B | Supports Oncogenicity | 4 | submitted | EID10331TERT promoter mutations are activating and commonly found at two hotspots within the TERT promoter region which occur 124 and 146 base pairs (hg19) upstream of the translation start site. These hotspo… (full text at CIViC) PMID 23955565 · Nonoguchi et al., 2013 · Open in CIViC | civic |
| TERT Overexpression1 | ||||||||
| UO126 | Clear Cell Renal Cell Carcinoma | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID2900A total of 96 histopathologically confirmed RCC cases and corresponding normal tissues were subjected to hTERT gene expression using real-time PCR. Two RCC cell lines viz. ACHN and A498 were treated w… (full text at CIViC) PMID 28215740 · Pal et al., 2017 · Open in CIViC | civic |
| TERT Promoter Mutation8 | ||||||||
| (prognostic) | GlioblastomaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID516In 187 patients with glioblastoma, those with TERT promoter mutations had worse cummulative survival than wild-type patients. The most common mutation was C228T (73% of mutants) followed by C250T (27%… (full text at CIViC) PMID 23955565 · Nonoguchi et al., 2013 · Open in CIViC | civic |
| 〃 | Bladder Urothelial Carcinoma | Prognostic | B | Supports Better Outcome | 4 | submitted | EID7968Patients with mutations at TERT promoter region of -124 and -146 of ATG showed poor survival in the absence but not in the presence of the variant allele of a common polymorphism with ID of rs2853669 … (full text at CIViC) PMID 24101484 · Rachakonda et al., 2013 · Open in CIViC | civic |
| 〃 | Cutaneous MelanomaALIAS | Prognostic | ||||||
| TET1 mutation1 | ||||||||
| Immune Checkpoint Inhibitor | Malignant NeoplasmALIAS | Predictive | C | Supports Sensitivity Response | 3 | submitted | EID12409In a retrospective study on TCGA data, the presence of non-synonymous mutations in TET1 is enriched in patients responding to immune checkpoint inhibitor treatment (n=519, P = 0.003). In an ICI-treate… (full text at CIViC) PMID 31623662 · Wu et al., 2019 · Open in CIViC | civic |
| TET2 Mutation1 | ||||||||
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Does Not Support N/A | 4 | accepted | EID415In a cohort of 783 young adult patients with acute myeloid leukemia, those with TET2 mutations did not have significantly different rates of complete recovery, refractory disease, or hypoplastic death… (full text at CIViC) PMID 22430270 · Gaidzik et al., 2012 · Open in CIViC | civic |
Data updated 2 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.
| Diagnostic |
| C |
| Supports Positive |
| 4 |
| accepted |
EID12171In this 2015 study the authors applied genome and RNA sequencing to analyze a cohort of five diagnostic pre-treatment samples from patients aged between 7 and 17 years, all diagnosed with TCF3::HLF po… (full text at CIViC) PMID 26214592 · Fischer et al., 2015 · Open in CIViC |
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| B Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); TCF3-PBX1ALIAS |
| Diagnostic |
| B |
| Supports Positive |
| 4 |
| accepted |
EID11717This study from 1991 (before the advent of next-generation sequencing) aimed to decipher molecular basis and oncogenic mechanisms of the t(1;19)(q23;p13), which was already known at the time as a rec… (full text at CIViC) PMID 1671560 · Hunger et al., 1991 · Open in CIViC |
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| 〃 | B Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); TCF3-PBX1ALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID11772From 1101 patients enrolled in 4 consecutive acute lymphoblastic leukemia clinical trials at St Jude Children's Research Hospital (1979-1994), 45 of them were identified to bear t(1;19)(q23;p13) or d… (full text at CIViC) PMID 7989935 · Pui et al., 1994 · Open in CIViC | civic |
| (oncogenic) | B Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); TCF3-PBX1ALIAS | Oncogenic | E | Supports Oncogenicity | 3 | accepted | EID11719In an earlier study of 15 patients with TCF3::PBX1 B-ALL, 2 of the 15 had neonatal blood spots found to be positive for the TCF3::PBX1 fusion breakpoint using polymerase chain reaction (PCR). In this … (full text at CIViC) PMID 31434706 · Hein et al., 2019 · Open in CIViC | civic |
| HyperCVAD Regimen | B Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); TCF3-PBX1ALIAS | Predictive | B | Supports Sensitivity Response | 4 | submitted | EID11720While it is not common in adult acute lymphoblastic leukemia (ALL), the t(1;19)(q23;p13) rearrangement is still a hallmark for favorable prognosis in a retrospective cohort study with 427 adult patien… (full text at CIViC) PMID 32955970 · Yilmaz et al., 2021 · Open in CIViC | civic |
| NCT00137111 | B Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); TCF3-PBX1ALIAS | Predictive | B | Supports Sensitivity Response | 4 | submitted | EID11718Clinical trials conducted at St Jude Children's Research Hospital revealed that patients with pre-B acute lymphoblastic leukemia who have the TCF3::PBX1 fusion exhibit a favorable overall outcome when… (full text at CIViC) PMID 19282835 · Jeha et al., 2009 · Open in CIViC | civic |
| Supports Poor Outcome |
| 2 |
| submitted |
EID6934Evaluation of 25 Korean patients with primary glioblastomas, individuals with TERT promoter mutations (N=16) had worse overall survival (median 81.7 weeks [95% confidence interval (CI), 61.71–101.85])… (full text at CIViC) PMID 29344264 · Jeong et al., 2017 · Open in CIViC |
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| 〃 | GlioblastomaCURATED_BROADER | Prognostic | D | Supports Poor Outcome | 2 | submitted | EID6935Surgical samples from 25 Korean patients with primary glioblastomas were disassociated for cell culture and evaluated for TERT promoter mutations (N=16 mutant, N=9 wildtype). All patients harbored the… (full text at CIViC) PMID 29344264 · Jeong et al., 2017 · Open in CIViC | civic |
| B |
| Supports Poor Outcome |
| 3 |
| accepted |
EID515In patients with nonacral cutaneous melanoma, those with mutations in the TERT promoter had shorter overall survival than wild-type patients. PMID 25217772 · Griewank et al., 2014 · Open in CIViC |
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| (diagnostic) | Malignant Thyroid Gland Neoplasm | Diagnostic | B | Supports Positive | 3 | accepted | EID657TERT promoter mutations are prevalent in aggressive sub-types of thyroid cancers. This work showed that TERT promoter mutations were significantly more prevalent in the tall cell papillary thyroid car… (full text at CIViC) PMID 23766237 · Liu et al., 2013 · Open in CIViC | civic |
| (prognostic) | Malignant Thyroid Gland Neoplasm | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID658TERT promoter mutation C228T is significantly associated with BRAF V600E mutation, a marker of more aggressive tumors, in papillary thyroid cancer (PTC). Conversely, the BRAF V600E mutation is signifi… (full text at CIViC) PMID 23766237 · Liu et al., 2013 · Open in CIViC | civic |
| 〃 | GlioblastomaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID6933In 50 patients with primary glioblastomas, patients without TERT promoter mutations (N=13, median 27 mo) survived longer than those harboring mutations (N=37, 14 mo; P = 0.01 by the log rank test; HR … (full text at CIViC) PMID 23530248 · Killela et al., 2013 · Open in CIViC | civic |
| 〃 | Childhood Low Grade Glioma | Prognostic | C | Supports Poor Outcome | 4 | accepted | EID7188The aim of this Chinese study was to identify prognostic biomarkers for pediatric low-grade gliomas (PLGG). Approximately 300 patients were included. Using Sanger sequencing, mutations at TERT promote… (full text at CIViC) PMID 29948154 · Yang et al., 2018 · Open in CIViC | civic |
| Iodine I-131 | Thyroid Gland Carcinoma | Predictive | B | Supports Resistance | 3 | submitted | EID6961Differentiated thyroid cancer patients with distant metastatic disease (N=66) were evaluated for radioiodine uptake and therapeutic response. Compared to patients with wildtype TERT, patients with TER… (full text at CIViC) PMID 27493271 · Yang et al., 2017 · Open in CIViC | civic |