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Variants & evidence
322 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 |
|---|---|---|---|---|---|---|---|---|
| CARD11 MUTATION3 | ||||||||
| (prognostic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Prognostic | D | Supports Poor Outcome | 4 | rejected | EID8344The signalling adaptor CARD11 is required for constitutive NF-kappaB pathway activity and survival in ABC DLBCL. Roughly 10% of ABC DLBCLs have mutant CARD11 isoforms that activate NF-kappaB, but the … (full text at CIViC) PMID 20054396 · Davis et al., 2010 · Open in CIViC | civic |
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11932This 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 |
| 〃 | Mantle Cell Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11844Genetic heterogeneity in primary and relapsed mantle cell lymphomas: Impact of recurrent CARD11 mutations PMID 27224912 · Wu et al., 2016 · Open in CIViC | civic |
| CCND1 Overexpression4 | ||||||||
| (prognostic) | Mantle Cell Lymphoma | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID358Cyclin D1 overexpression is associated with shorter overall survival and increased metastasis in mantle cell lymphoma. PMID 17891190 · Jares et al., 2007 · Open in CIViC | civic |
| Bortezomib | Multiple Myeloma | Predictive | C | Supports Sensitivity Response | 3 | submitted | EID7788Bone marrow specimens from 20/47 patients treated with bortezomib were analyzed. Researchers analyzed CCND1, CCND2, and CCND3 expression using real-time PCR. Results show all patients with CCND1 ove… (full text at CIViC) PMID 20578819 · Ngo et al., 2010 · Open in CIViC | civic |
| Palbociclib | Mantle Cell Lymphoma | Predictive | B | Does Not Support Sensitivity Response | 2 | accepted | EID1536A pharmacodynamic study (NCT00420056) of 17 mantle cell lymphoma MCL patients was performed using the CDK4/6 inhibitor palbociclib (PD0332991). Patients were verified by IHC, FISH or molecular testing… | |
| CCND3 mutation2 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11926This 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 |
| 〃 | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11814Many mutations in CCND3 have been described in the cited study and other studies of BL PMID 30617194 · Grande et al., 2019 · Open in CIViC | civic |
| CD58 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11923This 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 |
| CD70 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11925This 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 |
| CD79B MUTATION2 | ||||||||
| (prognostic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Prognostic | A | Supports Better Outcome | 4 | submitted | EID8262MCD subtype is based on the co-occurrence of MYD88.L265P and CD79B mutations. PMID 29641966 · Schmitz et al., 2018 · Open in CIViC | civic |
| (diagnostic) | MCD Diffuse Large B-Cell Lymphoma | Diagnostic | E | Supports Positive | 3 | submitted | EID11822This is one of the genetic features of this subgroup PMID 32289277 · Wright et al., 2020 · Open in CIViC | civic |
| CD80 Overexpression1 | ||||||||
| Cisplatin + GaliximabCombination | B-Cell Non-Hodgkin Lymphoma | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID12554In a preclinical study using 5 CD80-overexpressing Burkitt B-cell lymphoma cell lines (Raji, Daudi, Ramos, DHL4, 2F7), treatment with the anti-CD80 monoclonal antibody galiximab (25–100 µg/mL) inhibit… (full text at CIViC) PMID 22267549 · Martinez-Paniagua et al., 2012 · Open in CIViC | civic |
| CD83 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID12001This 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 |
| CDC50A loss-of-function mutation1 | ||||||||
| R-CHOP Regimen | Diffuse Large B-Cell LymphomaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 4 | submitted | EID11922This study shows that patients with TMEM30A mutations respond better to standard of care (R-CHOP). The functional data implies these mutations may also sensitize more generally to other chemotherapies… (full text at CIViC) PMID 32094924 · Ennishi et al., 2020 · Open in CIViC | civic |
| CDC50A Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11921This 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 |
| CDKN2A Mutation1 | ||||||||
| (oncogenic) | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11815Mutations have been described in several studies including the one cited. PMID 30617194 · Grande et al., 2019 · Open in CIViC | civic |
| CHD8 mutation1 | ||||||||
| (oncogenic) | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11817Mutations in this gene have been described as a feature of some BLs as per this study PMID 30617194 · Grande et al., 2019 · Open in CIViC | civic |
| CIITA Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11916This 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 |
| ALK Fusion3 | ||||||||
| (prognostic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Prognostic | C | Supports Poor Outcome | 3 | accepted | EID1263CLTC-ALK is one of the most common ALK fusions found in diffuse large B cell lymphoma (DLBCL). In a retrospective study of 38 patients with ALK-rearranged DLBCL, 3 were CD20 positive. Only one showed … (full text at CIViC) PMID 19636007 · Laurent et al., 2009 · Open in CIViC | civic |
| ALK Inhibitor TAE684 | Diffuse Large B-Cell LymphomaCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 4 | accepted | EID1261A cell line called LM1 was established from the bone marrow of a 13 year old female patient with relapsed CLTC-ALK positive diffuse large B-cell lymphoma (DLBCL). The patient had been heavily treated … (full text at CIViC) PMID 21494621 · Cerchietti et al., 2011 · Open in CIViC | civic |
| Crizotinib | Diffuse Large B-Cell Lymphoma | |||||||
| CRBN Mutation1 | ||||||||
| Lenalidomide + PomalidomideSubstitutes | Multiple Myeloma | Predictive | C | Supports Resistance | 3 | accepted | EID1766A 37 year old, heavily pretreated (including thalidomide and lenalidomide) patient with IgG-kappa multiple myeloma was sequenced following extramedullary relapse. A high number of alterations were obs… (full text at CIViC) PMID 23480694 · Egan et al., 2013 · Open in CIViC | civic |
| CREBBP HAT mutation1 | ||||||||
| MTOR Inhibitor | Follicular Lymphoma | Predictive | B | Supports Sensitivity Response | 3 | submitted | EID12290Two phase II clinical trials examined mTOR inhibitors, everolimus (NCT00436618) or temsirolimus (NCT00290472) in relapsed/refractory FL. Tumour blocks were collected from these trials for 21 cases (15… (full text at CIViC) PMID 39188028 · Kumar et al., 2024 · Open in CIViC | civic |
| CREBBP Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11927This study showed that CREBBP and EP300 were recurrently mutated in DLBCL PMID 21390126 · Pasqualucci et al., 2011 · Open in CIViC | civic |
| CREBBP R1446C1 | ||||||||
| HDAC Inhibitor OBP-801 | Lymphoma | Predictive | D | Supports Sensitivity Response | 2 | submitted | EID12291Lymphoma cell lines with CREBBP R1446C mutations demonstrated heightened sensitivity to the HDAC3 inhibitor BRD3308. Both CREBBP R1446C and CREBBP KO cell lines showed significantly greater inhibition… (full text at CIViC) PMID 31915197 · Mondello et al., 2020 · Open in CIViC | civic |
| CTAG1B Overexpression1 | ||||||||
| Letetresgene Autoleucel | Multiple Myeloma | Predictive | B | Supports Sensitivity Response | 3 | accepted | EID2940Clinical responses to NY-ESO-1/LAGE-1 TCR-engineered T-cells were observed in 16 of 20 patients (80%) with advanced multiple myeloma expressing NY-ESO-1 and/or LAGE-1 in this Phase 1/2a trial showing … (full text at CIViC) PMID 26193344 · Rapoport et al., 2015 · Open in CIViC | civic |
| CTAG2 Overexpression1 | ||||||||
| Letetresgene Autoleucel | Multiple Myeloma | Predictive | B | Supports Sensitivity Response | 3 | accepted | EID2941Clinical responses to NY-ESO-1/LAGE-1 TCR-engineered T-cells were observed in 16 of 20 patients (80%) with advanced multiple myeloma expressing NY-ESO-1 and/or LAGE-1 in this Phase 1/2a trial showing … (full text at CIViC) PMID 26193344 · Rapoport et al., 2015 · Open in CIViC | civic |
| CD28 Fusion1 | ||||||||
| Ipilimumab | Sezary SyndromeALIAS | Predictive | C | Supports Sensitivity Response | 2 | accepted | EID1520A 67-year-old Caucasian female with stage IVA Sezary syndrome presented refractory to traditional therapy and was enrolled in a whole genome study trial. Sequencing revealed a CTLA4-CD28 fusion protei… (full text at CIViC) PMID 25802883 · Sekulic et al., 2015 · Open in CIViC | civic |
| CXCR4 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11939Identified from whole genome sequencing of DLBCL PMID 23131835 · Khodabakhshi et al., 2012 · Open in CIViC | civic |
| DAZAP1 mutation1 | ||||||||
| (oncogenic) | Mantle Cell Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11845DAZAP1 has been demonstrated to be recurrently mutated in multiple studies of MCL PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC | civic |
| DBI PROMOTER DEMETHYLATION1 | ||||||||
| (diagnostic) | Lymphoma | Diagnostic | B | Supports Positive | 5 | rejected | civic | |
| DDX3X D347G1 | ||||||||
| (oncogenic) | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11812DDX3X mutations are one of the most common somatic alterations in BL. This is just an arbitrarily chosen example of a mutation observed in the cited study. PMID 30617194 · Grande et al., 2019 · Open in CIViC | civic |
| DDX3X Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11940Identified from exome sequencing of 574 DLBCL biopsies PMID 29641966 · Schmitz et al., 2018 · Open in CIViC | civic |
| DTX1 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11941Identified as recurrently mutated in an analysis of 574 DLBCL exomes PMID 29641966 · Schmitz et al., 2018 · Open in CIViC | civic |
| DUSP2 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 2 | submitted | EID11942This 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 |
| EBF1 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11999This 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 |
| EIF4A1 mutation1 | ||||||||
| (oncogenic) | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11838Recurrence of mutations confirmed by multiple studies PMID 31558468 · Panea et al., 2019 · Open in CIViC | civic |
| EP300 G1506V1 | ||||||||
| Unspecified therapy | Hodgkin LymphomaALIAS | Predictive | B | Does Not Support N/A | 3 | rejected | EID7234This missense variant is located in Histone acetyltransferases domain of p300 protein, which has been reported as association with Hodgkin's Lymphoma according to Cancer Cell Line Encyclopedia (CCLE) … (full text at CIViC) PMID 26124919 · Haery et al., 2015 · Open in CIViC | civic |
| EP300 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11928This study showed that CREBBP and EP300 were recurrently mutated in DLBCL PMID 21390126 · Pasqualucci et al., 2011 · Open in CIViC | civic |
| ETS1 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11931This 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 |
| EWSR1 mutation1 | ||||||||
| (oncogenic) | Mantle Cell Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11846Somewhat rare but recurrent mutations have been described PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC | civic |
| EZH2 A682G3 | ||||||||
| (oncogenic) | Follicular Lymphoma | Oncogenic | B | Supports Oncogenicity | 3 | accepted | EID12876In this 2013 study, the authors analyzed 366 follicular lymphoma (FL) patients with additional paired samples from 33 cases of transformed FL. Patients harbored EZH2 mutations predominantly at codons … (full text at CIViC) PMID 24052547 · Bödör et al., 2013 · Open in CIViC | civic |
| 〃 | Follicular Lymphoma | Oncogenic | C | Supports Oncogenicity | 3 | accepted | EID12875In this 2020 study, the authors analyzed four cases of follicular lymphoma using circulating tumor DNA and droplet digital PCR to monitor EZH2 hotspot mutations, including A682G. One patient with tran… (full text at CIViC) PMID 32668764 · Nagy et al., 2020 · Open in CIViC | civic |
| Tazemetostat | Non-Hodgkin Lymphoma | Predictive | D | Supports Sensitivity Response | 3 | submitted | ||
| EZH2 A638G + EZH2 A682G1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 3 | submitted | EID12904In this 2011 study, the authors analyzed tumor and matched normal DNA and RNA from 127 cases of B-cell non-Hodgkin lymphoma to identify recurrent somatic variants. EZH2 A682G and A638G were identified… (full text at CIViC) PMID 21796119 · Morin et al., 2011 · Open in CIViC | civic |
| EZH2 A692V3 | ||||||||
| (oncogenic) | Follicular Lymphoma | Oncogenic | B | Supports Oncogenicity | 3 | submitted | EID12885In this study, 366 patients with follicular lymphoma were analyzed using next-generation sequencing and Sanger sequencing to evaluate EZH2 variants. EZH2 variants were identified in 101 patients (27.6… (full text at CIViC) PMID 24052547 · Bödör et al., 2013 · Open in CIViC | civic |
| 〃 | B-Cell Non-Hodgkin Lymphoma | Oncogenic | C | Supports Oncogenicity | 2 | submitted | EID12896In this study, tumor and matched normal DNA and RNA from 127 cases of B-cell non-Hodgkin lymphoma were analyzed to identify recurrent somatic variants. EZH2 A692V was identified in one lymphoma case. … (full text at CIViC) PMID 21796119 · Morin et al., 2011 · Open in CIViC | civic |
| 〃 | Non-Hodgkin Lymphoma | Oncogenic | D | Supports Oncogenicity | 3 | |||
Data updated 10 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.
PMID 22383795 · Leonard et al., 2012 · Open in CIViC
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| 〃 | Mantle Cell Lymphoma | Predictive | D | Supports Sensitivity Response | 1 | accepted | EID1563In Mantle Cell Lymphoma (MCL), t(11:14)-induced overexpression of cyclin D1 was targeted by CDK4/6 inhibitor Palbociclib (PD0332991). Palbociclib caused Rb dephosphorylation in MCL cell lines and pati… (full text at CIViC) PMID 16690963 · Marzec et al., 2006 · Open in CIViC | civic |
| Predictive |
| C |
| Supports Sensitivity Response |
| 3 |
| accepted |
EID1265A 21 year old male presented with lymphadenopathy and a low density mass in pancreas. Histopathological analysis showed diffuse tumor cell infiltrate (CD20/EMA negative) with cytoplasmic ALK. RT-PCR i… (full text at CIViC) PMID 26221234 · Li et al., 2015 · Open in CIViC |
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EID12877This 2014 preclinical study evaluated the EZH2 inhibitor EPZ-6438 (tazemetostat) in multiple EZH2-mutant non-Hodgkin lymphoma models, including the Pfeiffer lymphoma cell line harboring the EZH2 A682G… (full text at CIViC) PMID 24563539 · Knutson et al., 2014 · Open in CIViC |
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EID12897In this study, biochemical and cellular assays were used to characterize the EZH2 A687V variant identified in non-Hodgkin lymphoma. EZH2 A687V exhibited increased catalytic activity toward histone H3 … (full text at CIViC) PMID 25253781 · Ott et al., 2014 · Open in CIViC |
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