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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 |
|---|---|---|---|---|---|---|---|---|
| ID3 mutation1 | ||||||||
| (oncogenic) | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11841ID3 mutations have been firmly established as a distinguishing genetic feature of BL and are one of the defining mutations in the new BL genetic subgrouping system proposed by Thomas et al PMID 23143595 · Richter et al., 2012 · Open in CIViC | civic |
| IDH2 R1722 | ||||||||
| (diagnostic) | Peripheral T-Cell Lymphoma, Not Otherwise Specified | Diagnostic | B | Supports Positive | 4 | accepted | EID628IDH2 R172 mutations were frequently observed in patients with the angioimmunoblastic T-cell lymphoma subtype of peripheral T-cell lymphomas but not observed in other subtypes. PMID 22215888 · Cairns et al., 2012 · Open in CIViC | civic |
| (prognostic) | Peripheral T-Cell Lymphoma, Not Otherwise Specified | Prognostic | B | Does Not Support Better Outcome | 3 | accepted | EID627In patients with angioimmunoblastic T-cell lymphoma (a subtype of peripheral T-cell lymphoma), IDH2 R172 mutations (N=16) had no impact on overall survival when compared to patients with wildtype IDH2… (full text at CIViC) PMID 26268241 · Wang et al., 2015 · Open in CIViC | civic |
| IL4R Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11955Based on a larger collection of 325 de novo DLBCL cases, the authors identified tumors with DLBCL morphology and a primary mediastinal B-cell lymphoma gene expression signature and identified mutation… (full text at CIViC) PMID 33684939 · Duns et al., 2021 · Open in CIViC | civic |
| IRF4 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11933This 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 |
| IRF8 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11920mutated genes in follicular and diffuse large B-cell lymphoma. They reported 30 genes that had significant evidence for recurrent mutation and positive selective pressure (Table 1). This is one of tho… (full text at CIViC) PMID 21796119 · Morin et al., 2011 · Open in CIViC | civic |
| ITPKB Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11956This gene was identified as recurrently mutated in an analysis of 574 DLBCL exomes PMID 29641966 · Schmitz et al., 2018 · Open in CIViC | civic |
| KLF2 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11957This gene was identified as recurrently mutated in an analysis of 574 DLBCL exomes PMID 29641966 · Schmitz et al., 2018 · Open in CIViC | civic |
| KLHL14 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11958This study sequenced 73 DLBCL tumors (34 with matched constitutional DNA) and reported 322 genes they deemed recurrently mutated. Only genes that have been confirmed by other similar studies were adde… (full text at CIViC) PMID 23292937 · Zhang et al., 2013 · Open in CIViC | civic |
| KLHL6 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11924This 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 |
| KMT2C Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 2 | submitted | EID11959The rate of KMT2C/MLL3 mutations reported in DLBCL was above 20% in the Zhang study but much lower in other studies (around 5%). Although the mutations do continue to be observed, the relevance and fr… (full text at CIViC) PMID 23292937 · Zhang et al., 2013 · Open in CIViC | civic |
| KMT2D Loss-of-function1 | ||||||||
| (diagnostic) | Follicular Lymphoma | Diagnostic | B | Supports Positive | 3 | accepted | EID435MLL2 was found to be the most frequently mutated gene in a sample of 31/35 follicular lymphoma patients and was not mutated in normal centroblast samples. Furthermore, MLL2 mutations were as frequentl… (full text at CIViC) PMID 21796119 · Morin et al., 2011 · Open in CIViC | civic |
| KMT2D mutation5 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | civic | |
| 〃 | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11835More common in DLBCL but also mutated in BL PMID 30617194 · Grande et al., 2019 · Open in CIViC | civic |
| 〃 | Mantle Cell Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11871[the study] identified 25 significantly mutated genes, including known drivers such as ataxia-telangectasia mutated (ATM), cyclin D1 (CCND1), and the tumor suppressor TP53; mutated genes encoding the … | |
| KRAS G122 | ||||||||
| (prognostic) | Multiple Myeloma | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID487In a retrospective study of 439 patients with multiple myeloma enrolled in a clinical trial, 28 had mutations in KRAS (22/28 in G12/G13). Those with KRAS (but not NRAS) mutations had worse overall (me… (full text at CIViC) PMID 18528420 · Chng et al., 2008 · Open in CIViC | civic |
| 〃 | Multiple Myeloma | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID377The presence of KRAS mutations in MM patients is prognostic for shorter overall and progression free survival. PMID 18528420 · Chng et al., 2008 · Open in CIViC | civic |
| KRAS G12A6 | ||||||||
| Melphalan | Multiple Myeloma | Predictive | B | Supports Resistance | 2 | accepted | EID2009In a study of patients receiving melphalan-based therapy, those with KRAS codon 12 mutations were less likely to have a positive response than those with wildtype KRAS (26.9% vs. 58.3%, P=0.015). PMID 19284554 · Greco et al., 2009 · Open in CIViC | civic |
| 〃 | Multiple Myeloma | Predictive | B | Supports Resistance | — | submitted | EID2010Activating mutations in KRAS or NRAS were observed more frequently in multiple myeloma patients than in patients with monoclonal gammopathy of uncertain significance (MGUS) (31% vs. 5% ). Another stu… (full text at CIViC) PMID 11524732 · Bezieau et al., 2001 · Open in CIViC | civic |
| 〃 | Multiple Myeloma | Predictive | B | Supports Resistance | — | submitted | ||
| KRAS G12C6 | ||||||||
| Melphalan | Multiple Myeloma | Predictive | B | Supports Resistance | 2 | rejected | EID2258In a study of patients receiving melphalan-based therapy, those with KRAS codon 12 mutations were less likely to have a positive response than those with wildtype KRAS (26.9% vs. 58.3%, P=0.015). PMID 19284554 · Greco et al., 2009 · Open in CIViC | civic |
| 〃 | Multiple Myeloma | Predictive | B | Supports Resistance | — | submitted | EID2259Activating mutations in KRAS or NRAS were observed more frequently in multiple myeloma patients than in patients with monoclonal gammopathy of uncertain significance (MGUS) (31% vs. 5% ). Another stu… (full text at CIViC) PMID 11524732 · Bezieau et al., 2001 · Open in CIViC | civic |
| 〃 | Multiple Myeloma | Predictive | B | Supports Resistance | — | submitted | ||
| KRAS G12D7 | ||||||||
| Melphalan | Multiple Myeloma | Predictive | B | Supports Resistance | 2 | rejected | EID2247In a study of patients receiving melphalan-based therapy, those with KRAS codon 12 mutations were less likely to have a positive response than those with wildtype KRAS (26.9% vs. 58.3%, P=0.015). PMID 19284554 · Greco et al., 2009 · Open in CIViC | civic |
| 〃 | Multiple Myeloma | Predictive | B | Supports Resistance | — | submitted | EID2248Activating mutations in KRAS or NRAS were observed more frequently in multiple myeloma patients than in patients with monoclonal gammopathy of uncertain significance (MGUS) (31% vs. 5% ). Another stu… (full text at CIViC) PMID 11524732 · Bezieau et al., 2001 · Open in CIViC | civic |
| 〃 | Multiple Myeloma | Predictive | B | Supports Resistance | — | submitted | ||
| KRAS G12S6 | ||||||||
| Melphalan | Multiple Myeloma | Predictive | B | Supports Resistance | 2 | rejected | EID2274In a study of patients receiving melphalan-based therapy, those with KRAS codon 12 mutations were less likely to have a positive response than those with wildtype KRAS (26.9% vs. 58.3%, P=0.015). PMID 19284554 · Greco et al., 2009 · Open in CIViC | civic |
| 〃 | Multiple Myeloma | Predictive | B | Supports Resistance | — | submitted | EID2275Activating mutations in KRAS or NRAS were observed more frequently in multiple myeloma patients than in patients with monoclonal gammopathy of uncertain significance (MGUS) (31% vs. 5% ). Another stu… (full text at CIViC) PMID 11524732 · Bezieau et al., 2001 · Open in CIViC | civic |
| 〃 | Multiple Myeloma | Predictive | B | Supports Resistance | — | submitted | ||
| KRAS G131 | ||||||||
| (prognostic) | Multiple Myeloma | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID488In a retrospective study of 439 patients with multiple myeloma enrolled in a clinical trial, 28 had mutations in KRAS (22/28 in G12/G13). Those with KRAS (but not NRAS) mutations had worse overall (me… (full text at CIViC) PMID 18528420 · Chng et al., 2008 · Open in CIViC | civic |
| KRAS Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11960This study performed exome sequencing on 55 DLBCL tumor samples and identified several significantly mutated genes including KRAS. PMID 22343534 · Lohr et al., 2012 · Open in CIViC | civic |
| KRAS Q611 | ||||||||
| (prognostic) | Multiple Myeloma | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID489In a retrospective study of 439 patients with multiple myeloma enrolled in a clinical trial, 28 had mutaions in KRAS. Those with mutations had worse overall and progression free survival than those wi… (full text at CIViC) PMID 18528420 · Chng et al., 2008 · Open in CIViC | civic |
| LTB Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11961The 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 |
| LYN Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 2 | submitted | EID11962The 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. The rate of mut… (full text at CIViC) PMID 29713087 · Chapuy et al., 2018 · Open in CIViC | civic |
| MCL1 Amplification1 | ||||||||
| Mcl-1 Inhibitor MIK665 | Multiple Myeloma | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID11768In this preclinical study, the sensitivity of Multiple Myeloma tumors harboring 1q21 amplification to MCL-1 inhibitor S63845 was tested. The effect of the MCL-1 inhibitor was tested in 21 human myelom… (full text at CIViC) PMID 31856269 · Slomp et al., 2019 · Open in CIViC | civic |
Data updated 20 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 24145436 · Beà et al., 2013 · Open in CIViC
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| 〃 | Mantle Cell Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11892Through a meta-analysis of exome and whole genome sequencing data, this study identified 18 genes that were significantly enriched for mutations in MCL (including KMT2D). PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC | civic |
| (prognostic) | Mantle Cell Lymphoma | Prognostic | E | Does Not Support Poor Outcome | 3 | submitted | EID11896This study did not confirm a previous reported association between KMT2D mutation status and outcome (Supplemental Figure 5) PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC | civic |
Activating mutations in KRAS or NRAS were observed more frequently in multiple myeloma patients than in patients with monoclonal gammopathy of uncertain significance (MGUS) (31% vs. 5% ). Another stu… (full text at CIViC)
PMID 15339850 · Rasmussen et al., 2005 · Open in CIViC
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| 〃 | Multiple Myeloma | Predictive | D | Supports Resistance | 2 | accepted | EID2012In in vitro experiments, myeloma cell lines expressing activating NRAS and KRAS mutations are less sensitive to the apoptosis-inducing effects of dexamethasone, doxorubicin, and melphalan in compariso… (full text at CIViC) PMID 11050000 · Rowley et al., 2000 · Open in CIViC | civic |
| 〃 | Multiple Myeloma | Predictive | D | Supports Resistance | 2 | accepted | EID2013In in vitro experiments, myeloma cell lines expressing activating NRAS and KRAS mutations are less sensitive to the apoptosis-inducing effects of dexamethasone, doxorubicin, and melphalan in compariso… (full text at CIViC) PMID 12483530 · Rowley et al., 2002 · Open in CIViC | civic |
| 〃 | Multiple Myeloma | Predictive | D | Supports Resistance | 2 | accepted | EID2014In in vitro experiments, myeloma cell lines expressing activating NRAS and KRAS mutations are less sensitive to the apoptosis-inducing effects of dexamethasone, doxorubicin, and melphalan in compariso… (full text at CIViC) PMID 16497971 · Hoang et al., 2006 · Open in CIViC | civic |
Activating mutations in KRAS or NRAS were observed more frequently in multiple myeloma patients than in patients with monoclonal gammopathy of uncertain significance (MGUS) (31% vs. 5% ). Another stu… (full text at CIViC)
PMID 15339850 · Rasmussen et al., 2005 · Open in CIViC
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| 〃 | Multiple Myeloma | Predictive | D | Supports Resistance | 2 | accepted | EID2261In in vitro experiments, myeloma cell lines expressing activating NRAS and KRAS mutations are less sensitive to the apoptosis-inducing effects of dexamethasone, doxorubicin, and melphalan in compariso… (full text at CIViC) PMID 11050000 · Rowley et al., 2000 · Open in CIViC | civic |
| 〃 | Multiple Myeloma | Predictive | D | Supports Resistance | 2 | accepted | EID2263In in vitro experiments, myeloma cell lines expressing activating NRAS and KRAS mutations are less sensitive to the apoptosis-inducing effects of dexamethasone, doxorubicin, and melphalan in compariso… (full text at CIViC) PMID 16497971 · Hoang et al., 2006 · Open in CIViC | civic |
| 〃 | Multiple Myeloma | Predictive | D | Supports Resistance | — | accepted | EID2262In in vitro experiments, myeloma cell lines expressing activating NRAS and KRAS mutations are less sensitive to the apoptosis-inducing effects of dexamethasone, doxorubicin, and melphalan in compariso… (full text at CIViC) PMID 12483530 · Rowley et al., 2002 · Open in CIViC | civic |
Activating mutations in KRAS or NRAS were observed more frequently in multiple myeloma patients than in patients with monoclonal gammopathy of uncertain significance (MGUS) (31% vs. 5% ). Another stu… (full text at CIViC)
PMID 15339850 · Rasmussen et al., 2005 · Open in CIViC
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| 〃 | Multiple Myeloma | Predictive | D | Supports Resistance | 2 | accepted | EID2250In in vitro experiments, myeloma cell lines expressing activating NRAS and KRAS mutations are less sensitive to the apoptosis-inducing effects of dexamethasone, doxorubicin, and melphalan in compariso… (full text at CIViC) PMID 11050000 · Rowley et al., 2000 · Open in CIViC | civic |
| 〃 | Multiple Myeloma | Predictive | D | Supports Resistance | 2 | accepted | EID2252In in vitro experiments, myeloma cell lines expressing activating NRAS and KRAS mutations are less sensitive to the apoptosis-inducing effects of dexamethasone, doxorubicin, and melphalan in compariso… (full text at CIViC) PMID 16497971 · Hoang et al., 2006 · Open in CIViC | civic |
| 〃 | Multiple Myeloma | Predictive | D | Supports Resistance | — | accepted | EID2251In in vitro experiments, myeloma cell lines expressing activating NRAS and KRAS mutations are less sensitive to the apoptosis-inducing effects of dexamethasone, doxorubicin, and melphalan in compariso… (full text at CIViC) PMID 12483530 · Rowley et al., 2002 · Open in CIViC | civic |
| Vemurafenib | Hairy Cell Leukemia | Predictive | C | Supports Resistance | 2 | accepted | EID1580One patient enrolled in a clinical study to evaluate vemurafenib treatment of BRAF V600E mutant hairy-cell leukemia developed resistance to vemurafenib retreatment. 300-gene targeted sequencing of the… (full text at CIViC) PMID 26352686 · Tiacci et al., 2015 · Open in CIViC | civic |
Activating mutations in KRAS or NRAS were observed more frequently in multiple myeloma patients than in patients with monoclonal gammopathy of uncertain significance (MGUS) (31% vs. 5% ). Another stu… (full text at CIViC)
PMID 15339850 · Rasmussen et al., 2005 · Open in CIViC
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| 〃 | Multiple Myeloma | Predictive | D | Supports Resistance | 2 | accepted | EID2277In in vitro experiments, myeloma cell lines expressing activating NRAS and KRAS mutations are less sensitive to the apoptosis-inducing effects of dexamethasone, doxorubicin, and melphalan in compariso… (full text at CIViC) PMID 11050000 · Rowley et al., 2000 · Open in CIViC | civic |
| 〃 | Multiple Myeloma | Predictive | D | Supports Resistance | 2 | accepted | EID2278In in vitro experiments, myeloma cell lines expressing activating NRAS and KRAS mutations are less sensitive to the apoptosis-inducing effects of dexamethasone, doxorubicin, and melphalan in compariso… (full text at CIViC) PMID 12483530 · Rowley et al., 2002 · Open in CIViC | civic |
| 〃 | Multiple Myeloma | Predictive | D | Supports Resistance | 2 | accepted | EID2279In in vitro experiments, myeloma cell lines expressing activating NRAS and KRAS mutations are less sensitive to the apoptosis-inducing effects of dexamethasone, doxorubicin, and melphalan in compariso… (full text at CIViC) PMID 16497971 · Hoang et al., 2006 · Open in CIViC | civic |