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Variants & evidence
7,129 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 |
|---|---|---|---|---|---|---|---|---|
| WT1 Exon 7 Mutation4 | ||||||||
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID206WT1 mutations were associated with a higher cumulative incidence of relapse and shorter relapse free survival in young (15-60+, median 45) patients with cytogenetically normal AML. PMID 18591546 · Virappane et al., 2008 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 2 | accepted | EID201Mutations in WT1 were associated with increased risk of recurrence in young patients (15-50) with cytogenetically normal AML. PMID 19536888 · Renneville et al., 2009 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 2 | accepted | EID202Mutations in WT1 were associated with a worse overall prognosis than patients wildtype for WT1 in young patients (15-50), primarily because of increased risk of disease recurrence. PMID 19536888 · Renneville et al., 2009 · Open in CIViC | civic |
| Cytarabine + DaunorubicinCombination | Acute Myeloid LeukemiaCURATED_BROADER | Predictive | B | Supports Resistance | 3 | accepted | EID139WT1 mutations were associated with an inferior response to induction chemotherapy with a higher rate of resistant disease in young (15-60+, median 45) patients with cytogenetically normal AML. PMID 18591546 · Virappane et al., 2008 · Open in CIViC | civic |
| WT1 Exon 9 Mutation2 | ||||||||
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Does Not Support N/A | 4 | accepted | EID165Rates of complete remission and refractory disease are not different in patients with WT1 mutations (69% exon 7, 15% exon 9) than those without in young (16-60) patients with cytogenetically normal AM… (full text at CIViC) PMID 19221039 · Gaidzik et al., 2009 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID210WT1 mutations were associated with shorter overall and disease free survival in a cohort of cytogenetically normal, young (<60) AML patients. PMID 18559874 · Paschka et al., 2008 · Open in CIViC | civic |
| WT1 Mutations1 | ||||||||
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 5 | submitted | EID8563WT1 mutations (documented across the protein) appear more frequently and impact new sites in childhood AML as compared to adult AML. The co-occurrence of a FLT3-ITD with WT1 mutations (and/or NUP98-NS… (full text at CIViC) PMID 29227476 · Bolouri et al., 2018 · Open in CIViC | civic |
| XPO1 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11996The authors applied exome sequencing to 14 relapsed/refractory (R/R) DLBCLs PMID 26608593 · Mareschal et al., 2016 · Open in CIViC | civic |
| XRCC1 Q399R2 | ||||||||
| (prognostic) | Lung Non-Small Cell CarcinomaCURATED_BROADER | Prognostic | B | Supports Better Outcome | 4 | accepted | EID672The XRCC1 R399Q variant was significantly correlated with higher overall survival in non-small cell lung carcinoma (NSCLC) patients treated with gemcitabine and platinum. 62 patients with either Stage… (full text at CIViC) PMID 22551904 · Liao et al., 2012 · Open in CIViC | civic |
| Carboplatin + CisplatinSubstitutes | Malignant Cervical Neoplasm | Predictive | B | Supports Sensitivity Response | 4 | accepted | EID673The XRCC1 R399Q variant was correlated with increased response to platinum-based neoadjuvant chemotherapy in patients with cervical cancer. Tumor samples from 36 patients with Stage IB or IIA bulky (g… (full text at CIViC) PMID 16875718 · Chung et al., 2006 · Open in CIViC | civic |
| XRCC1 R194W1 | ||||||||
| Docetaxel + Gemcitabine + VinorelbineSubstitutes | Lung Non-Small Cell CarcinomaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 4 | accepted | EID659The XRCC1 R194W variant was shown to be correlated with increased chance of response to platinum-based chemotherapy in Stage IV Non-small Cell Lung Carcinoma (NSCLC). 82 patients with Stage IV NSCLC w… (full text at CIViC) PMID 19157633 · Sun et al., 2009 · Open in CIViC | civic |
| ORC1 Mutation + XRCC3 MutationXRCC3ORC11 | ||||||||
| Cisplatin | Triple-Negative Breast CarcinomaALIAS | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID11716In this study, the sensitivity to Cisplatin (a platinum-based drug) was studied in XRCC3 knockout, and ORC1 mutant PDX models. A role of XRCC3 loss in cisplatin sensitivity was reported in the study. … (full text at CIViC) PMID 37029129 · Ter Brugge et al., 2023 · Open in CIViC | civic |
| MAMLD1 Fusion1 | ||||||||
| (diagnostic) | Supratentorial Ependymoma YAP1 Fusion-Positive | Diagnostic | B | Supports Positive | 4 | accepted | EID11888A total of 15 pediatric patients with supratentorial ependymomas harboring YAP1::MAMLD1 fusions were reported. In all 15 cases, YAP1::MAMLD1 fusions were confirmed by RT-PCR and sequencing. In the ma… (full text at CIViC) PMID 30246434 · Andreiuolo et al., 2019 · Open in CIViC | civic |
| YAP1 Overexpression3 | ||||||||
| Docetaxel + FluorouracilSubstitutes | Malignant Esophageal Neoplasm | Predictive | D | Supports Resistance | 2 | submitted | EID1982YAP1 up-regulation of EGFR plays an important role in conferring therapy resistance to 5-FU or docetaxel in esophageal cancer (EC) cells. Inhibitor of YAP1, Verteporfin, can overcome the acquired chem… (full text at CIViC) PMID 25739674 · Song et al., 2015 · Open in CIViC | civic |
| Verteporfin | Malignant Esophageal Neoplasm | Predictive | D | Supports Sensitivity Response | 2 | submitted | EID1983YAP1 up-regulation of EGFR plays an important role in conferring therapy resistance to 5-FU or docetaxel in esophageal cancer (EC) cells. Inhibitor of YAP1, Verteporfin, can overcome the acquired chem… (full text at CIViC) PMID 25739674 · Song et al., 2015 · Open in CIViC | civic |
| Docetaxel + VerteporfinCombination | Malignant Esophageal Neoplasm | |||||||
| SIRAL1 Fusion1 | ||||||||
| (diagnostic) | Supratentorial Ependymoma YAP1 Fusion-Positive | Diagnostic | C | Supports Positive | 1 | accepted | EID11889This is a case report of a 26-year-old male patient who sufferred 3 grand mal seizures and was found to have a left frontal lobe ependymoma with a YAP1::FAM118B fusion. No other genetic alterations we… (full text at CIViC) PMID 33480048 · Wang et al., 2021 · Open in CIViC | civic |
| YAP1 Fusion1 | ||||||||
| (diagnostic) | Supratentorial Ependymoma YAP1 Fusion-Positive | Diagnostic | B | Supports Positive | 4 | accepted | EID11890DNA methylation profiling of 500 ependymal tumors identified 9 molecular profiles with 3 occurring in the supratentorial compartment (designated ST EPN). RNA sequencing performed in 7 of the 13 cases… (full text at CIViC) PMID 25965575 · Pajtler et al., 2015 · Open in CIViC | civic |
| YES1 Amplification + YES1 Overexpression1 | ||||||||
| CH6953755 + DasatinibSubstitutes | Lung Small Cell Carcinoma | Predictive | D | Supports Sensitivity Response | 2 | submitted | EID12556In preclinical small cell lung carcinoma (SCLC) models with YES1 amplification or high expression, treatment with the YES1 inhibitor CH6953755 (30 mg/kg, q2d) or dasatinib (45 mg/kg daily) produced ma… (full text at CIViC) PMID 35988891 · Redin et al., 2022 · Open in CIViC | civic |
| NUTM2A Fusion + NUTM2B Fusion + NUTM2E FusionNUTM2ANUTM2BNUTM2E3 | ||||||||
| (diagnostic) | Clear Cell Sarcoma of the KidneyALIAS | Diagnostic | B | Supports Positive | 3 | accepted | EID11782In this 2012 study O’Meara et al. included 51 clear cell sarcoma of kidney (CCSK). Using an index CCSK with the t(10;17)(q22;p13) identified by cytogenetics, they were able to map the breakpoints and … (full text at CIViC) PMID 22294382 · O'Meara et al., 2012 · Open in CIViC | civic |
| 〃 | Clear Cell Sarcoma of the KidneyALIAS | Diagnostic | C | Supports Positive | 2 | accepted | EID11783In this 2020 study Kenny et al. included 68 cases of clear cell sarcoma of the kidney (CCSK). Using RT-PCR with RNA extracted from FFPE tumour tissue they detected a YWHAE::NUTM2 fusion transcript in… (full text at CIViC) PMID 32364435 · Kenny et al., 2020 · Open in CIViC | |
| FLT3 Fusion1 | ||||||||
| (diagnostic) | Myeloproliferative NeoplasmCURATED_BROADER | Diagnostic | C | Supports Positive | 3 | submitted | EID13108A 64-year-old man presented with splenomegaly, peripheral eosinophilia, and bone marrow findings consistent with myeloproliferative neoplasm with eosinophilia. Cytogenetic analysis identified a balanc… (full text at CIViC) PMID 32866288 · Zhou et al., 2020 · Open in CIViC | civic |
| ABL2 Fusion9 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | B | Supports Positive | 2 | submitted | EID13064An adult patient (>18 years old) with B-ALL harbored an in-frame ZC3HAV1::ABL2 fusion, identified by targeted RNA sequencing, with no IKZF1 deletion, and presented with a white blood cell count of 72 … (full text at CIViC) PMID 33781217 · Norvilas et al., 2021 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 3 | submitted | EID12962A 10-year-old female (Case #62) with B-ALL harbored a ZC3HAV1::ABL2 fusion and a PAX5 deletion. The fusion was identified by RNA sequencing and confirmed by RT-PCR and Sanger sequencing; breakpoints w… (full text at CIViC) PMID 27265895 · Lilljebjörn et al., 2016 · Open in CIViC | civic |
| (prognostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Prognostic | C | Supports | ||||
| ZEB1 Expression7 | ||||||||
| (prognostic) | Mantle Cell Lymphoma | Prognostic | B | Supports Poor Outcome | 3 | submitted | EID12499In a tissue micro array from 46 cases histologically classified as MCL according to WHO criteria, 50% were positive for ZEB1 expression. ZEB1 expression correlated with beta catenin (Spearman correlat… (full text at CIViC) PMID 24013721 · Sánchez-Tilló et al., 2014 · Open in CIViC | civic |
| (oncogenic) | Mantle Cell Lymphoma | Oncogenic | D | Supports Oncogenicity | 2 | submitted | EID12501In a tissue micro array from 46 cases histologically classified as MCL according to WHO criteria, 50% were positive for ZEB1 expression. ZEB1 expression correlated with beta catenin (Spearman correlat… (full text at CIViC) PMID 24013721 · Sánchez-Tilló et al., 2014 · Open in CIViC | civic |
| Cytarabine + Doxorubicin + GemcitabineSubstitutes | Mantle Cell Lymphoma | Predictive | D | |||||
| ZEB1 Overexpression1 | ||||||||
| (prognostic) | Malignant Colon Neoplasm | Prognostic | B | Supports Poor Outcome | 4 | submitted | EID8085In a cohort of 118 CC patients, ZEB1 had high expression in 66.9% and low expression in 33.1% of patients by IHC. Median OS was longer in the ZEB1 low expression group (14.0 months, 95% CI 11.63-14.97… (full text at CIViC) PMID 29151941 · Guo et al., 2017 · Open in CIViC | civic |
| PDGFRB e9::e91 | ||||||||
| (oncogenic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Oncogenic | C | Supports Oncogenicity | 2 | submitted | EID12480A male adolescent patient with study ID SJBALL267_D was reported by gene expression profile to have Ph-like non CRLF2 B-ALL. White blood count was 1.7. WGS and RNA-seq was performed. ZEB2::PDGFR joini… (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC | civic |
| PDGFRB Fusion1 | ||||||||
| Dasatinib + ImatinibSubstitutes | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Predictive | D | Supports Sensitivity Response | 2 | submitted | EID12481Xenograft models of 10 Ph-like ALL tumors including ZEB2-PDGFRB were generated from engrafting primary human leukemia cells into NOD-SCID IL2R gamma null mice. The authors state that the xenograft cel… (full text at CIViC) | civic |
| BZW1 Fusion + PDGFRB FusionPDGFRBBZW11 | ||||||||
| (oncogenic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Oncogenic | C | Supports Oncogenicity | 2 | submitted | EID12482A patient is reported with karyotype 46,XX,del(12)(p13)[6]/46,XX[19] to have Ph-like other ALL of B-ALL Lineage by expression profiling. Age at diagnosis was 16.674, termed Adolescent and Young Adult,… (full text at CIViC) PMID 36050548 · Brady et al., 2022 · Open in CIViC | civic |
| ZFP36L1 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11997The authors analyzed 304 primary DLBCLs using whole exome sequencing and targeted sequencing. This one one of the genes they identified as significantly enriched for somatic mutations. PMID 29713087 · Chapuy et al., 2018 · Open in CIViC | civic |
| MAML2 Fusion1 | ||||||||
| (diagnostic) | Supratentorial Ependymoma ZFTA Fusion-Positive | Diagnostic | C | Supports Positive | 2 | accepted | EID11430In an analysis of 13 cases of supratentorial tumors with ZFTA rearrangements without RELA involvement, all were found to have DNA methylation profiles similar to ZFTA::RELA supratentorial ependymoma. … (full text at CIViC) PMID 34389065 · Tauziède-Espariat et al., 2021 · Open in CIViC | civic |
| NCOA1 Fusion1 | ||||||||
| (diagnostic) | Supratentorial Ependymoma ZFTA Fusion-Positive | Diagnostic | C | Supports Positive | 2 | accepted | EID11428In an analysis of 13 cases of supratentorial glial tumors with ZFTA rearrangements without RELA involvement, all were found to have DNA methylation profiles similar to ZFTA::RELA supratentorial ependy… (full text at CIViC) PMID 34389065 · Tauziède-Espariat et al., 2021 · Open in CIViC | civic |
| NCOA2 Fusion1 | ||||||||
| (diagnostic) | Supratentorial Ependymoma ZFTA Fusion-Positive | Diagnostic | C | Supports Positive | 2 | accepted | EID11429In an analysis of 13 cases of supratentorial glial tumors with ZFTA rearrangements without RELA involvement, all were found to have DNA methylation profiles similar to ZFTA::RELA supratentorial ependy… (full text at CIViC) PMID 34389065 · Tauziède-Espariat et al., 2021 · Open in CIViC | civic |
| RELA Fusion3 | ||||||||
| (diagnostic) | Supratentorial Ependymoma ZFTA Fusion-Positive | Diagnostic | A | Supports Positive | 3 | accepted | EID8627Ependymoma RELA fusion-positive is a genetically defined ependymoma subtype accepted as a distinct entity in the 2016 WHO classification of CNS tumors. This variant accounts for the majority of suprat… (full text at CIViC) PMID 27157931 · Louis et al., 2016 · Open in CIViC | civic |
| (prognostic) | Supratentorial Ependymoma ZFTA Fusion-Positive | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID8628Pajtler et al. generated genome-wide DNA methylation profiles for 500 ependymal tumors using the Illumina 450k methylation array. Tumors were classified into nine molecular subgroups of which 88 supra… (full text at CIViC) PMID 25965575 · Pajtler et al., 2015 · Open in CIViC | civic |
| (diagnostic) | Supratentorial Ependymoma ZFTA Fusion-Positive | Diagnostic | B | Supports | ||||
Data updated 9 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.
| Predictive |
| D |
| Supports Sensitivity Response |
| 2 |
| submitted |
EID9329YAP1 and EGFR were found to be highly expressed in esophageal cancer (EC) cells and play an important role in resistance to 5-FU or docetaxel. Treatment of the EC cell line JHESO with the YAP1 inhibit… (full text at CIViC) PMID 25739674 · Song et al., 2015 · Open in CIViC |
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| 〃 | Clear Cell Sarcoma of the KidneyALIAS | Diagnostic | C | Supports Positive | 2 | accepted | EID11784In this 2016 study Kenny et al. included 159 cases of clear cell sarcoma of the kidney (CCSK). RNA was extracted from either snap-frozen or FFPE tumour tissue samples and real-time PCR used to identif… (full text at CIViC) PMID 27000436 · Kenny et al., 2016 · Open in CIViC | civic |
| 3 |
| submitted |
EID13063A male patient older than 10 years with B-ALL harbored a ZC3HAV1(exon 12)::ABL2(exon 3) fusion and a concomitant IKZF1 deletion, presenting with a white blood cell count >50 × 10⁹/L. He was enrolled o… (full text at CIViC) PMID 29507076 · Tran et al., 2018 · Open in CIViC |
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| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 2 | submitted | EID11620B-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. 2 patients (ages 6.4 and 10.4 yea… (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC | civic |
| (oncogenic) | Adult B Acute Lymphoblastic LeukemiaALIAS | Oncogenic | C | Supports Oncogenicity | 2 | submitted | EID12963A 16.6-year-old Taiwanese male (Case #299) with B-ALL harbored a ZC3HAV1(exon 12)::ABL2(exon 2) fusion and concurrent deletions of CDKN2A/2B, PAX5 (exons 2–5), and IKZF1 (exons 2–8). The fusion was de… (full text at CIViC) PMID 33707599 · Hsu et al., 2021 · Open in CIViC | civic |
| Asciminib + BCR-ABL Inhibitor HS-10382Substitutes | B Lymphoblastic Leukemia/Lymphoma with Intrachromosomal Amplification of Chromosome 21ALIAS | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID12504ABL2-rearranged (ABL2r) acute lymphoblastic leukemia (ALL) is a high-risk subtype of Ph-like ALL, typically treated with intensive chemotherapy. The ZC3HAV1::ABL2 fusion is a rare mutation in ABL2r an… (full text at CIViC) PMID 40678005 · Lagonik et al., 2025 · Open in CIViC | civic |
| Chemotherapy + DasatinibCombination | B Acute Lymphoblastic LeukemiaALIAS | Predictive | C | Supports Sensitivity Response | 2 | submitted | EID12969A 38-year-old male with Ph-negative B ALL was found to harbor a ZC3HAV1 ABL2 rearrangement identified by massively parallel DNA sequencing (MPDS), consistent with a Philadelphia-like genotype. The leu… (full text at CIViC) PMID 28430957 · Chen et al., 2016 · Open in CIViC | civic |
| Imatinib | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Predictive | C | Supports Sensitivity Response | 3 | submitted | EID9804An 18-year-old male with B-ALL presented with hyperleukocytosis (WBC 171×10⁹/L, 90% blasts). Conventional cytogenetics showed a normal male karyotype (46,XY), and FISH/PCR were negative for ETV6-RUNX1… (full text at CIViC) PMID 31723830 · Decool et al., 2019 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Predictive | C | Supports Sensitivity Response | 1 | submitted | EID12513A 27-year-old male (Patient #17, Table 1) with B-ALL harbored a ZC3HAV1(exon 12)::ABL2(exon 2) fusion, concurrent CD200-BTLA and IKZF1 (exons 2–7) deletions, and a gain of chromosome X, presenting wit… (full text at CIViC) PMID 31434701 · Tanasi et al., 2019 · Open in CIViC | civic |
| Supports Resistance |
| 2 |
| accepted |
EID899Downregulation of ZEB1 expression in mantle cell lymphoma cell lines and mouse xenografts led to enhanced sensitivity towards treatment with doxorubicin, cytarabin and gemcitabine. PMID 24013721 · Sánchez-Tilló et al., 2014 · Open in CIViC |
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| Doxorubicin + SalinomycinCombination | Mantle Cell Lymphoma | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID900Downregulation of ZEB1 expression in mantle cell lymphoma cell lines and mouse xenografts led to enhanced sensitivity towards treatment with doxorubicin, cytarabin and gemcitabine. the combination of … (full text at CIViC) PMID 24013721 · Sánchez-Tilló et al., 2014 · Open in CIViC | civic |
| Oxaliplatin | Malignant Colon Neoplasm | Predictive | D | Supports Resistance | 4 | submitted | EID8086The oxaliplatin resistant HCT116/OXA cell line shows increased EMT phenotype, as well as cell invasion and migration ability compared to parental HCT116 cells. The EMT-associated transcription factor … (full text at CIViC) PMID 29151941 · Guo et al., 2017 · Open in CIViC | civic |
| Salinomycin | Mantle Cell Lymphoma | Predictive | D | Supports Sensitivity Response | 2 | submitted | EID12500In a tissue micro array from 46 cases histologically classified as MCL according to WHO criteria, 50% were positive for ZEB1 expression. ZEB1 expression correlated with beta catenin (Spearman correlat… (full text at CIViC) PMID 24013721 · Sánchez-Tilló et al., 2014 · Open in CIViC | civic |
| Vincristine | Mantle Cell Lymphoma | Predictive | D | Does Not Support Resistance | 2 | submitted | EID12502In ZEB1 positive MCL cell line Granta-519, cells were treated with control shRNA or shZEB1, and then incubated with varying concentrations of vincristine. No difference in cell viability was seen over… (full text at CIViC) PMID 24013721 · Sánchez-Tilló et al., 2014 · Open in CIViC | civic |
| 3 |
| accepted |
EID11432In 16 of 21 supratentorial ependymomas, oncogenic fusions between ZFTA (C11orf95) and RELA were identified by a variety of methods including WGS, RT-PCR, FISH, and RNAseq. ZFTA::RELA fusions were a… (full text at CIViC) PMID 24553141 · Parker et al., 2014 · Open in CIViC |
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