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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 |
|---|---|---|---|---|---|---|---|---|
| ACTB Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11906This study performed exome sequencing on 55 DLBCL tumor samples and identified several significantly mutated genes including ACTB. PMID 22343534 · Lohr et al., 2012 · Open in CIViC | civic |
| ALK F1174L + ALK Fusion1 | ||||||||
| Ceritinib | Anaplastic Large Cell Lymphoma | Predictive | D | Supports Resistance | 3 | submitted | EID12658In an in vitro study, a FL5.12 cell line expressing NPM1-ALK (a known sensitizing alteration to crizotinib) and an ALK F1174L co-mutation, demonstrated resistance to ceritinib treatment (IC50: 140.45 … (full text at CIViC) PMID 27009859 · Amin et al., 2016 · Open in CIViC | civic |
| ALK G1269A + ALK Fusion1 | ||||||||
| Crizotinib | Anaplastic Large Cell Lymphoma | Predictive | D | Supports Resistance | 3 | submitted | EID12654In an in vitro study, a FL5.12 cell line expressing NPM1-ALK (a known sensitizing alteration to crizotinib) and an ALK G1269A co-mutation, demonstrated resistance to crizotinib treatment (IC50: 871.75… (full text at CIViC) PMID 27009859 · Amin et al., 2016 · Open in CIViC | civic |
| ALK I11711 | ||||||||
| Crizotinib | Anaplastic Large Cell Lymphoma | Predictive | D | Supports Resistance | — | submitted | EID4612In an in vitro study, Karpas299CR cells expressing NPM-ALK fusion (a known sensitizing alteration to crizotinib) and an ALK I1171T co-mutation, demonstrated resistance to crizotinib treatment compared… (full text at CIViC) PMID 24509625 · Zdzalik et al., 2014 · Open in CIViC | civic |
| ALK L1196Q1 | ||||||||
| Crizotinib | Anaplastic Large Cell Lymphoma | Predictive | D | Supports Resistance | 3 | submitted | EID4609In an in vitro study, cell lines expressing NPM-ALK L1196Q, K299CR06 (endogenous expression) and Ba/F3 (overexpression), demonstrated resistance to crizotinib treatment (IC50: 948 nmol/L and 212 nmol/… (full text at CIViC) PMID 23239810 · Ceccon et al., 2013 · Open in CIViC | civic |
| ALK R214H1 | ||||||||
| Crizotinib | Nasal Type Extranodal NK/T-Cell Lymphoma | Predictive | C | Supports Sensitivity Response | — | submitted | EID4827In a patient with nasal type extranodal NK/T-cell lymphoma harboring ALK R214H mutation, ALK R214H was associated with response to crizotinib monotherapy. Prior to identification of the ALK R214H muta… (full text at CIViC) PMID 27594191 · Thanarajasingam et al., 2016 · Open in CIViC | civic |
| ARID1A Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11907This 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 |
| ARID1A Q185*1 | ||||||||
| (oncogenic) | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11813Reported as significantly mutated in BL per the cited study. An arbitrarily selected variant from the study is included here. PMID 30617194 · Grande et al., 2019 · Open in CIViC | civic |
| ATM Mutation2 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11908This study reportedly sequenced 1001 DLBCL tumors using whole exome sequencing. They reported 150 recurrently mutated genes. Only genes that have been confirmed by other similar studies were added to … (full text at CIViC) PMID 28985567 · Reddy et al., 2017 · Open in CIViC | civic |
| Olaparib | Mantle Cell Lymphoma | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID1907Two ATM deficient mantle cell lymphoma (MCL) cell lines were more sensitive to PARP-1 inhibition with olaparib or PJ-34 than 4 other MCL cell lines. shRNA mediated ATM knockdown in a cell line increas… (full text at CIViC) PMID 20124459 · Williamson et al., 2010 · Open in CIViC | civic |
| ATM Oncogenic Mutations (loss of function alterations)1 | ||||||||
| (oncogenic) | Mantle Cell Lymphoma | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11842Mantle cell lymphoma is characterized by inactivation of the ATM gene PMID 10706620 · Schaffner et al., 2000 · Open in CIViC | civic |
| B2M Mutation2 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11930This 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 | EID11891Through a meta-analysis of exome and whole genome sequencing data, this study identified 18 genes that were significantly enriched for mutations in MCL. PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC | civic |
| BCL10 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11911This 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 |
| BCL11A Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11935The 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 |
| BCL2 F104I2 | ||||||||
| Venetoclax | Follicular Lymphoma | Predictive | C | Supports Resistance | 2 | accepted | EID8375This study identified BCL2 F104I mutation in one Follicular Lymphoma patient who developed resistance to venetoclax. Codon 104 is located at the venetoclax binding site of BCL2. PMID 31234236 · Blombery et al., 2019 · Open in CIViC | civic |
| 〃 | Follicular Lymphoma | Predictive | D | Supports Resistance | 3 | accepted | EID8376Rs4;11 cells overexpressing BCL2 F104I exhibited >40-fold greater resistance to venetoclax after 24-hour treatment (IC50 not reached) than Rs4;11 overexpressing BCL2 WT cells as determined by cell tit… (full text at CIViC) PMID 31234236 · Blombery et al., 2019 · Open in CIViC | civic |
| BCL2 Mutation1 | ||||||||
| (prognostic) | Follicular Lymphoma | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID5992In a multivariate analysis, BCL2 mutations and high FL international prognostic index were independent risk factors for transformation and death due to lymphoma. Some mutant Bcl-2 proteins exhibited e… (full text at CIViC) PMID 25452615 · Correia et al., 2015 · Open in CIViC | civic |
| BCL2 Overexpression2 | ||||||||
| (prognostic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID423In patients with Diffuse Large B-Cell Lymphoma, those with increased levels of BCL2 were shown to have decreased overall, disease-free, and relapse-free survival. PMID 9207459 · Gascoyne et al., 1997 · Open in CIViC | civic |
| 〃 | Diffuse Large B-Cell LymphomaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | rejected | EID424In patients with Diffuse Large B-Cell Lymphoma, those with increased levels of BCL2 were shown to have decreased OS, DFS, and RFS. PMID 9207459 · Gascoyne et al., 1997 · Open in CIViC | civic |
| BCL2 reg_e@[IGH]::BCL22 | ||||||||
| (diagnostic) | Follicular Lymphoma | Diagnostic | B | Supports Positive | 5 | submitted | EID11808This translocation is a hallmark feature of follicular lymphoma. Although it is not present in every case, it is one of the most common genetic features of FL. FISH or IHC staining for BCL2 is part of… (full text at CIViC) PMID 3537802 · Yunis et al., 1987 · Open in CIViC | civic |
| 〃 | Diffuse Large B-Cell LymphomaCURATED_BROADER | Diagnostic | B | Supports Positive | 4 | accepted | EID407The t(14;18) transloaction of BCL2 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 |
| BCL2 Translocation1 | ||||||||
| (diagnostic) | High Grade B-Cell Lymphoma with MYC and BCL2 Rearrangements | Diagnostic | A | Supports Positive | 4 | submitted | EID11810The combination of these genetic features are diagnostic for this newly defined entity as per the latest ICC and WHO guidelines PMID 35653592 · Campo et al., 2022 · Open in CIViC | civic |
| BCL6 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11915This 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 |
| BCL7A mutation2 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11936This study reportedly sequenced 1001 DLBCL tumors using whole exome sequencing. They reported 150 recurrently mutated genes. Only genes that have been confirmed by other similar studies were added to … (full text at CIViC) PMID 28985567 · Reddy et al., 2017 · Open in CIViC | civic |
| 〃 | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11816Mutations in this gene have been described in several studies including the one referenced here. PMID 30617194 · Grande et al., 2019 · Open in CIViC | civic |
| BIRC3 mutation1 | ||||||||
| (oncogenic) | Mantle Cell Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11843BIRC3 mutations have been described in MCL in multiple studies PMID 32160292 · Pararajalingam et al., 2020 · Open in CIViC | civic |
| BIRC6 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID12000This 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 |
| BMP7 mutation1 | ||||||||
| (oncogenic) | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 2 | submitted | EID11837Observed mutated in BL in more than one genomic data set PMID 31558468 · Panea et al., 2019 · Open in CIViC | civic |
| BRAF Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11937This study performed exome sequencing on 55 DLBCL tumor samples and identified several significantly mutated genes including BRAF. PMID 22343534 · Lohr et al., 2012 · Open in CIViC | civic |
| BRAF V600E12 | ||||||||
| (diagnostic) | Hairy Cell Leukemia | Diagnostic | B | Supports Positive | 4 | accepted | EID1127In 47 patients with Hairy Cell Leukemia, sequencing discovered a V600E mutation in all 47 of the sequenced patients. PMID 21663470 · Tiacci et al., 2011 · Open in CIViC | civic |
| (prognostic) | Multiple Myeloma | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID463In patients with multiple myeloma, those with BRAF V600E had shorter overall survival than wild-type. PMID 23612012 · Andrulis et al., 2013 · Open in CIViC | civic |
| Vemurafenib | Hairy Cell Leukemia | Predictive | B | Supports Sensitivity Response | 3 | submitted | EID11315In these two phase II studies (Italy and U.S. locations), BRAF V600E-mutant hairy-cell leukemia was treated with vemurafenib at a dose of 960 mg twice daily to investigate its efficacy. The overall re… | |
| BTG1 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11918This 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 |
| BTG2 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11914This 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 |
| BTK MUTATION1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11938This study reportedly sequenced 1001 DLBCL tumors using whole exome sequencing. They reported 150 recurrently mutated genes. Only genes that have been confirmed by other similar studies were added to … (full text at CIViC) PMID 28985567 · Reddy et al., 2017 · Open in CIViC | civic |
| 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 | ||||||
| CCND1 Overexpression2 | ||||||||
| (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 |
Data updated 21 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 26352686 · Tiacci et al., 2015 · Open in CIViC
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| 〃 | Hairy Cell Leukemia | Predictive | B | Supports Sensitivity Response | 2 | accepted | EID1579Two clinical trials evaluated the effects of vemurafenib in 54 patients with BRAF (V600E) positive hairy-cell leukemia. The overall response rate was 98% with 19/54 having a complete response and 34/… (full text at CIViC) PMID 26352686 · Tiacci et al., 2015 · Open in CIViC | civic |
| 〃 | Multiple Myeloma | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID1698A 65-year-old man presented with stage II myeloma. He was initially treated with chemotherapy and he received an autologous stem cell transplant. Sequencing of the recurrent tumor harbored BRAF V600E… (full text at CIViC) PMID 24997557 · Sharman et al., 2014 · Open in CIViC | civic |
| 〃 | Multiple Myeloma | Predictive | C | Supports Sensitivity Response | 2 | accepted | EID1699A 54-year-old man presented with stage II myeloma. He was initially treated with chemotherapy and received an autologous stem cell transplant. Genomic profiling of the bone biopsy revealed BRAF V600… (full text at CIViC) PMID 24997557 · Sharman et al., 2014 · Open in CIViC | civic |
| 〃 | Hairy Cell Leukemia | Predictive | C | Supports Sensitivity Response | — | submitted | EID3766In a refractory hairy cell leukemia patient harboring BRAF V600E mutation, BRAF V600E was associated with sensitivity to vemurafenib treatment. The patient was initially treated with conventional trea… (full text at CIViC) PMID 22621641 · Dietrich et al., 2012 · Open in CIViC | civic |
| 〃 | Hairy Cell Leukemia | Predictive | C | Supports Sensitivity Response | — | submitted | EID3767In a case report, a hairy cell leukemia (HCL) patient harboring BRAF V600E mutation was associated with a complete response to vemurafenib monotherapy after 3 months of treatment, which was sustained … (full text at CIViC) PMID 23300174 · Peyrade et al., 2013 · Open in CIViC | civic |
| 〃 | Hairy Cell Leukemia | Predictive | C | Supports Sensitivity Response | — | submitted | EID3768In a hairy cell leukemia patient harboring BRAF V600E mutation, BRAF V600E mutation was associated with improved response to vemurafenib treatment. The patient was treated with 3 lines of chemotherapy… (full text at CIViC) PMID 23278307 · Follows et al., 2013 · Open in CIViC | civic |
| 〃 | Hairy Cell Leukemia | Predictive | C | Supports Sensitivity Response | — | submitted | EID3769As a follow-up to a previous study (23300174), a hairy cell leukemia patient harboring BRAF V600E mutation was associated with response to vemurafenib monotherapy. The patient was previously treated w… (full text at CIViC) PMID 25815361 · Bailleux et al., 2015 · Open in CIViC | civic |
| 〃 | Hairy Cell Leukemia | Predictive | C | Supports Sensitivity Response | — | submitted | EID3770A hairy cell leukemia patient with extensive CNS involvement patient harboring BRAF V600E mutation was associated with complete response to vemurafenib monotherapy. Upon identification of the BRAF V60… (full text at CIViC) PMID 27116997 · McDowell et al., 2016 · Open in CIViC | civic |
| Venetoclax | Diffuse Large B-Cell LymphomaCURATED_BROADER | Predictive | D | Supports Resistance | 3 | submitted | EID8952In a preclinical study, Diffuse large B-cell lymphoma cell lines expressing BRAF V600E were resistant to a BCL-2 inhibitor, venetoclax, demonstrating cell growth inhibition at half-maximal growth inhi… (full text at CIViC) PMID 29463802 · Herling et al., 2018 · Open in CIViC | civic |
| 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 |
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