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Variants & evidence
310 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 |
|---|---|---|---|---|---|---|---|---|
| PRKDC Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11979This gene was identified as recurrently mutated in an analysis of 574 DLBCL exomes PMID 29641966 · Schmitz et al., 2018 · Open in CIViC | civic |
| PTEN Mutation1 | ||||||||
| (oncogenic) | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | civic | |
| RB1 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11980This 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 |
| REL AMPLIFICATION1 | ||||||||
| (diagnostic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Diagnostic | B | Supports Positive | 4 | accepted | EID409Amplification of REL is shown to be associated with germinal-center B-cell–like diffuse large-B-cell lymphomas. PMID 12075054 · Rosenwald et al., 2002 · Open in CIViC | civic |
| RFX7 mutation1 | ||||||||
| (oncogenic) | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11831Described in multiple genome-wide studies of BL PMID 30617194 · Grande et al., 2019 · Open in CIViC | civic |
| RHOA MUTATION2 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11981One of the first genes found to be affected by aberrant somatic hypermutation in DLBCL PMID 11460166 · Pasqualucci et al., 2001 · Open in CIViC | civic |
| 〃 | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11830Described in multiple genome-wide studies of BL PMID 30617194 · Grande et al., 2019 · Open in CIViC | civic |
| S1PR1 Mutation1 | ||||||||
| (oncogenic) | Mantle Cell Lymphoma | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11903Through a meta-analysis of exome and whole genome sequencing data, this study identified 18 genes that were significantly enriched for mutations in MCL including S1PR1. PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC | civic |
| S1PR2 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11982This 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 |
| SETD1B Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11983This 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 |
| SGK1 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11910This 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 |
| SIN3A mutation2 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11984The 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 |
| 〃 | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11829Described in multiple genome-wide studies of BL PMID 30617194 · Grande et al., 2019 · Open in CIViC | civic |
| SMARCA4 Mutation2 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11985This 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 |
| 〃 | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11828Described in multiple genome-wide studies PMID 30617194 · Grande et al., 2019 · Open in CIViC | civic |
| SOCS1 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11986The authors found that approximately 25% of diffuse large B-cell lymphoma and follicular lymphomas had SOCS1 mutations and they concluded these were likely caused by aberrant somatic hypermutation PMID 19734449 · Mottok et al., 2009 · Open in CIViC | civic |
| SP140 Mutation1 | ||||||||
| (oncogenic) | Mantle Cell Lymphoma | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11901Through a meta-analysis of exome and whole genome sequencing data, this study identified 18 genes that were significantly enriched for mutations in MCL including SP140. PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC | civic |
| SPEN Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11987This 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 |
| STAT3 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11988The authors sequenced exons 19–24 of STAT3 (the region where the hot spot has been reported in other malignancies) in 48 diffuse large B-cell lymphoma samples. PMID 24837465 · Ohgami et al., 2014 · Open in CIViC | civic |
| STAT3 SH2 DOMAIN MUTATION1 | ||||||||
| (diagnostic) | T-Cell Large Granular Lymphocyte Leukemia | Diagnostic | B | Supports Positive | 4 | accepted | EID957Mutations in the Src homology 2 (SH2) domain (exon 21) of STAT3 were found in 31 of 77 patients (40%) with large granular lymphocytic leukemia. Recurrent mutational hot spots included Y640F, D661V, D6… (full text at CIViC) PMID 22591296 · Koskela et al., 2012 · Open in CIViC | civic |
| STAT6 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11989The authors analyzed exome data from 38 relapsed DLBCLs and 138 diagnostic DLBCLs and identified genes enriched for mutations in the former relative to the latter. PMID 26647218 · Morin et al., 2016 · 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 |
| 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 |
| TET2 Mutation1 | ||||||||
| (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 |
| 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 |
| 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 |
| 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 Mutation4 | ||||||||
| (oncogenic) | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 4 | submitted | civic | |
| (prognostic) | Mantle Cell Lymphoma | Prognostic | E | Supports Poor Outcome | 4 | submitted | EID11894This study confirmed clinical associations between TP53 and NOTCH1 with poor outcome. PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC | civic |
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11913This 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… | |
| TP53 V143A1 | ||||||||
| (diagnostic) | Lymphoplasmacytic Lymphoma | Diagnostic | C | Supports N/A | 2 | submitted | EID2891A 73 y.o. male with Waldenström's Macroglobulinemia, a rare type of non-Hodgkin's lymphoma, donated bone marrow upon cancer recurrence to establish the cell line MWCL1. The bone marrow was initially … (full text at CIViC) PMID 21415268 · Hodge et al., 2011 · Open in CIViC | civic |
| UBE2A Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11994This 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 |
| UBR5 Mutation1 | ||||||||
| (oncogenic) | Mantle Cell Lymphoma | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11897Through a meta-analysis of exome and whole genome sequencing data, this study identified 18 genes that were significantly enriched for mutations in MCL including UBR5. This gene has also been reported… (full text at CIViC) PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC | civic |
| USP7 mutation1 | ||||||||
| (oncogenic) | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11824Described in multiple genome-wide studies of BL PMID 30617194 · Grande et al., 2019 · Open in CIViC | civic |
| ALK Fusion8 | ||||||||
| Ceritinib | Anaplastic Large Cell Lymphoma | Predictive | C | Supports Sensitivity Response | 3 | submitted | EID7546In a phase I study of the efficacy of ceritinib in ALK fusion positive cancer, a single patient with anaplastic large cell lymphoma was treated with 750mg daily ceritinb and had a partial response. Du… (full text at CIViC) PMID 24670165 · Shaw et al., 2014 · Open in CIViC | civic |
| Crizotinib | Anaplastic Large Cell Lymphoma | Predictive | A | Supports Sensitivity Response | 4 | accepted | EID11218This trial enrolled 26 patients with anaplastic large cell lymphoma (ALCL). The groups received twice daily crizotinib at doses of either 165 or 280 mg/m2. 83% of the 165 mg/m2 ALCL patients had a com… (full text at CIViC) PMID 28787259 · Mossé et al., 2017 · Open in CIViC | civic |
| 〃 | Anaplastic Large Cell Lymphoma | Predictive | B | Supports Sensitivity Response | ||||
| IRF4 Fusion3 | ||||||||
| (diagnostic) | Large B-Cell Lymphoma with IRF4 Rearrangement | Diagnostic | B | Supports Positive | 4 | accepted | EID12253In this 2011 study the authors screened B-cell lymphomas for a FISH pattern indicating an IGH break but lacking known common partners. After identifying the t(6;14)(p25;q32) with long distance inverse… (full text at CIViC) PMID 21487109 · Salaverria et al., 2011 · Open in CIViC | civic |
| 〃 | Large B-Cell Lymphoma with IRF4 Rearrangement | Diagnostic | B | Supports Positive | 4 | accepted | EID12255In this 2020 study the authors included twenty cases classified as IRF4 positive Large B-cell lymphomas (LBCL-IRF4). The patients were aged from 5 to 22 years (median of 14 years). All cases showed po… (full text at CIViC) PMID 31738823 · Ramis-Zaldivar et al., 2020 · Open in CIViC | civic |
| 〃 | Large B-Cell Lymphoma with IRF4 Rearrangement | Diagnostic | B | Supports | ||||
| WEE1 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11995This gene was identified as recurrently mutated in an analysis of 574 DLBCL exomes. Incidence is less than 3% in most cohorts so its relevance remains unclear. PMID 29641966 · Schmitz et al., 2018 · 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.
PMID 21796119 · Morin et al., 2011 · Open in CIViC
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| 〃 | Mantle Cell Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11893Through a meta-analysis of exome and whole genome sequencing data, this study identified 18 genes that were significantly enriched for mutations in MCL (including TP53). PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC | civic |
| 3 |
| accepted |
EID7361In this phase I/II study, 26 patients with relapsed/refractory ALK-positive ALCL were administered crizotinib orally twice daily in 28-day cycles as a single agent for an indefinite duration. Patients… (full text at CIViC) PMID 28787259 · Mossé et al., 2017 · Open in CIViC |
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| 〃 | Anaplastic Large Cell Lymphoma | Predictive | B | Supports Sensitivity Response | 3 | submitted | EID1140417 patients with ALK-positive advanced anaplastic large‐cell lymphoma (ALCL) enrolled in the PROFILE 1013 (NCT01121588) phase 1b single-arm, open-label, multi-centre study received crizotinib. ORR was… (full text at CIViC) PMID 29352732 · Gambacorti-Passerini et al., 2018 · Open in CIViC | civic |
| 〃 | Anaplastic Large Cell Lymphoma | Predictive | C | Supports Sensitivity Response | 4 | accepted | EID1240Crizotinib at 250mg daily was given to two patients with relapsed ALK-rearranged anaplastic large cell lymphoma (ALCL). Patient one, 26 yrs old, had been treated with the CHOP-15 chemotherapy regimen,… (full text at CIViC) PMID 21345110 · Gambacorti-Passerini et al., 2011 · Open in CIViC | civic |
| 〃 | Anaplastic Large Cell Lymphoma | Predictive | C | Supports Sensitivity Response | 3 | rejected | EID1242Four adult ALK-rearranged anaplastic large cell lymphoma (ALCL) patients were resistant to chemotherapy after 3 or more lines of treatment. The patients were administered 250 mg crizotinib twice dail… (full text at CIViC) PMID 23006951 · Foyil et al., 2012 · Open in CIViC | civic |
| 〃 | Diffuse Large B-Cell LymphomaCURATED_BROADER | Predictive | C | Supports Sensitivity Response | 2 | accepted | EID1264A 27 year old female patient with advanced-stage IV, CD20 negative diffuse large B cell lymphoma (DLBCL). ALK rearrangement was determined by FISH, but the ALK fusion partner was not determined due to… (full text at CIViC) PMID 24330038 · Wass et al., 2014 · Open in CIViC | civic |
| 〃 | Anaplastic Large Cell Lymphoma | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID7144Authors report the ALK inactivation in ALK-positive ALCL induces an increase in BCL2 levels, which could contribute to therapeutic failures of current ALK targeted therapies. Their data strongly sugge… (full text at CIViC) PMID 30679328 · Torossian et al., 2019 · Open in CIViC | civic |
| 3 |
| accepted |
EID12254In this 2020 study the authors included FFPE tumour tissue of patients <18 years of age with morphological follicular lymphoma (FL) and/or diffuse large B-cell lymphoma (DLBCL). FISH studies with IRF4… (full text at CIViC) PMID 32239695 · Au-Yeung et al., 2020 · Open in CIViC |
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