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Variants & evidence
5,621 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 |
|---|---|---|---|---|---|---|---|---|
| TFE3 Fusion2 | ||||||||
| (diagnostic) | Renal Cell Carcinoma with MiT Translocations | Diagnostic | B | Supports Positive | 3 | rejected | EID11529Argani, et al. (2001) included eight morphologically distinctive renal cell carcinomas with the t(X;17) translocation as seen in alveolar soft part sarcoma (ASPS), with the distinction that the t(X;17… (full text at CIViC) PMID 28766250 · Ju et al., 2018 · Open in CIViC | civic |
| 〃 | Renal Cell Carcinoma with MiT Translocations | Diagnostic | B | Supports Positive | 3 | accepted | EID11532Argani, et al. (2001) included eight morphologically distinctive renal cell carcinomas with the t(X;17) translocation as seen in alveolar soft part sarcoma (ASPS), with the distinction that the t(X;17… (full text at CIViC) PMID 11438465 · Argani et al., 2001 · Open in CIViC | civic |
| ASXL1 EXON 12 MUTATION1 | ||||||||
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID1379In patients with de novo AML who received intensive chemotherapy, ASXL1 mutations (N=51) were associated with shorter overall (P<0.001) and event free survival (P=0.012) compared to ASXL1 wild-type (N… (full text at CIViC) PMID 23018865 · Schnittger et al., 2013 · Open in CIViC | civic |
| ASXL1 Mutation7 | ||||||||
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 5 | accepted | EID1513Patients with Acute Myeloid Leukemia showed an synergistic mortality rate with ASXL1 and SRSF2 co-mutations such that individual mutations of either ASXL1 or SRSF2 resulted in ~20% probability of surv… (full text at CIViC) PMID 27276561 · Papaemmanuil et al., 2016 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID451In a meta-analysis of six studies totalling 3311 patients with non-M3 acute myeloid leukemia, those with mutations in ASXL1 had worse overall survival than wild-type patients (Hazard ratio 1.86, 95% C… (full text at CIViC) PMID 25308295 · Shivarov et al., 2015 · Open in CIViC | civic |
| (diagnostic) | Acute Myeloid LeukemiaCURATED_BROADER | |||||||
| JAK2 Fusion2 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 3 | accepted | EID7671In the study involving 1725 B-ALL patients, 264 were identified by microarray-based algorithm to have a Ph-like expression signature. Next generation sequencing (RNAseq, WGS, and/or WES) performed on … (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 3 | accepted | EID8095In B-lymphoblastic leukemia/lymphoma (B-ALL), the presence of this fusion is associated with so-called BCR/ABL1 like (Ph-like) subtype of the disease. The ATF7IP-JAK2 fusion is rare; in this study inv… (full text at CIViC) PMID 27870571 · Roberts et al., 2017 · Open in CIViC | civic |
| ATM A2062V1 | ||||||||
| Doxorubicin | Chronic Lymphocytic Leukemia | Predictive | D | Supports Resistance | 3 | accepted | EID2846Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the A2062V variant on ATM expression was tested by weste… (full text at CIViC) PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC | civic |
| ATM A2274T1 | ||||||||
| Doxorubicin | Chronic Lymphocytic Leukemia | Predictive | D | Supports Resistance | — | submitted | EID2848In an in vitro study using primary chronic lymphocytic leukemia (CLL) cells from patients with mutated (n=8) and wildtype (n=5) ATM, inhibition of cell growth was used as an assay to determine sensiti… (full text at CIViC) PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC | civic |
| ATM C2488Y1 | ||||||||
| Doxorubicin | Chronic Lymphocytic Leukemia | Predictive | D | Supports Resistance | 3 | accepted | EID2849Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the C2488Y variant on ATM expression was tested by weste… (full text at CIViC) PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC | civic |
| ATM c.7089+1del1 | ||||||||
| Doxorubicin | Chronic Lymphocytic Leukemia | Predictive | D | Supports Resistance | 3 | accepted | EID2830Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the c.7089+1del variant on ATM expression was tested by … (full text at CIViC) PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC | civic |
| ATM c.7515+1_2del1 | ||||||||
| Doxorubicin | Chronic Lymphocytic Leukemia | Predictive | D | Supports Resistance | 3 | accepted | EID2831Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the c.7515+1_2del variant on ATM expression was tested b… (full text at CIViC) PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC | civic |
| ATM c.902-1G>T1 | ||||||||
| Doxorubicin | Chronic Lymphocytic Leukemia | Predictive | D | Supports Resistance | 3 | accepted | EID2224Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the c.902-1G>T variant on ATM expression was tested by w… (full text at CIViC) PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC | civic |
| ATM D1682H1 | ||||||||
| Doxorubicin | Chronic Lymphocytic Leukemia | Predictive | D | Supports Resistance | 3 | accepted | EID2845Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the D1682H variant on ATM expression was tested by weste… (full text at CIViC) PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC | civic |
| ATM D1930V1 | ||||||||
| Doxorubicin | Chronic Lymphocytic Leukemia | Predictive | D | Supports Resistance | 2 | accepted | EID2837Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the D1930V variant on ATM expression was tested by weste… (full text at CIViC) PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC | civic |
| ATM D2870A or N2875K3 | ||||||||
| (oncogenic) | Lymphoma | Oncogenic | D | Supports Oncogenicity | 3 | submitted | EID12756In mice, the authors expressed two ATM missense variants (D2880A and N2885K) and a hematopoietic stem cell specific Cre recombinase that inactivates the conditional ATM allele (which behaves similarly… (full text at CIViC) PMID 27304073 · Yamamoto et al., 2016 · Open in CIViC | civic |
| (prognostic) | Lymphoma | Prognostic | D | Supports Poor Outcome | 2 | submitted | EID12757In mice, the authors expressed two ATM missense variants (D2880A and N2885K) and a hematopoietic stem cell specific Cre recombinase that inactivates the conditional ATM allele (which behaves similarly… (full text at CIViC) PMID 27304073 · Yamamoto et al., 2016 · Open in CIViC | civic |
| Irinotecan | Lymphoma | Predictive | D | Supports Sensitivity Response | 3 | submitted | ||
| ATM E2187*1 | ||||||||
| Doxorubicin | Chronic Lymphocytic Leukemia | Predictive | D | Supports Resistance | 3 | accepted | EID2839Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the E2187* variant on ATM expression was tested by weste… (full text at CIViC) PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC | civic |
| ATM F1025L1 | ||||||||
| Doxorubicin | Chronic Lymphocytic Leukemia | Predictive | D | Supports Resistance | 3 | accepted | EID2835Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the F1025L variant on ATM expression was tested by weste… (full text at CIViC) PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC | civic |
| ATM F2732V1 | ||||||||
| Doxorubicin | Chronic Lymphocytic Leukemia | Predictive | D | Supports Resistance | 3 | accepted | EID2841Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the F2732V variant on ATM expression was tested by weste… (full text at CIViC) PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC | civic |
| ATM K293*1 | ||||||||
| Doxorubicin | Chronic Lymphocytic Leukemia | Predictive | D | Supports Resistance | 3 | accepted | EID2832Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the K293* variant on ATM expression was tested by wester… (full text at CIViC) PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC | civic |
| ATM K468FS1 | ||||||||
| Doxorubicin | Chronic Lymphocytic Leukemia | Predictive | D | Does Not Support Resistance | 2 | accepted | EID2843Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the K468FS variant on ATM expression was tested by weste… (full text at CIViC) PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC | civic |
| ATM L2427P1 | ||||||||
| Doxorubicin | Chronic Lymphocytic Leukemia | Predictive | D | Supports Resistance | 3 | accepted | EID2840Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the L2427P variant on ATM expression was tested by weste… (full text at CIViC) PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC | civic |
| ATM Loss-of-function1 | ||||||||
| Olaparib | Lung Adenocarcinoma | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID5995Bi-allelic Atm deletion in mouse models of Kras-mutant lung adenocarcinoma does not affect cisplatin responses. In marked contrast, Atm-deficient tumors displayed an enhanced response to the topoisome… (full text at CIViC) PMID 28363999 · Schmitt et al., 2017 · Open in CIViC | civic |
| ATM Mutation12 | ||||||||
| (prognostic) | Chronic Lymphocytic Leukemia | Prognostic | A | Supports Poor Outcome | 5 | accepted | EID1539In a study of 406 previously untreated CLL cases, a multivariate analysis indicated that aberrations (N=44; mixed pathogenic germline and somatic) in exons 2-63 of ATM were significantly associated wi… (full text at CIViC) PMID 26837699 · Nadeu et al., 2016 · Open in CIViC | civic |
| 〃 | Chronic Lymphocytic Leukemia | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID2927ATM point mutations were found in 8/57 patients with CLL and were associated with a shorter treatment-free interval, suggesting a more aggressive course. PMID 21993670 · Guarini et al., 2012 · Open in CIViC | civic |
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | ||||
| 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 |
| ATM Q1084*1 | ||||||||
| Doxorubicin | Chronic Lymphocytic Leukemia | Predictive | D | Supports Resistance | — | submitted | EID2836In an in vitro study using primary chronic lymphocytic leukemia (CLL) cells from patients with mutated (n=8) and wildtype (n=5) ATM, inhibition of cell growth was used as an assay to determine sensiti… (full text at CIViC) PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC | civic |
| ATM Q984E1 | ||||||||
| Doxorubicin | Chronic Lymphocytic Leukemia | Predictive | D | Supports Resistance | — | submitted | EID2834In an in vitro study using primary chronic lymphocytic leukemia (CLL) cells from patients with mutated (n=8) and wildtype (n=5) ATM, inhibition of cell growth was used as an assay to determine sensiti… (full text at CIViC) PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC | civic |
| ATM R1575H1 | ||||||||
| Doxorubicin | Chronic Lymphocytic Leukemia | Predictive | D | Supports Resistance | — | submitted | EID2847In an in vitro study using primary chronic lymphocytic leukemia (CLL) cells from patients with mutated (n=8) and wildtype (n=5) ATM, inhibition of cell growth was used as an assay to determine sensiti… (full text at CIViC) PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC | civic |
| ATM R2034P1 | ||||||||
| Doxorubicin | Chronic Lymphocytic Leukemia | Predictive | D | Supports Resistance | — | submitted | EID2838In an in vitro study using primary chronic lymphocytic leukemia (CLL) cells from patients with mutated (n=8) and wildtype (n=5) ATM, inhibition of cell growth was used as an assay to determine sensiti… (full text at CIViC) PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC | civic |
| ATM R2034Ter1 | ||||||||
| Olaparib | Pancreatic Ductal Adenocarcinoma | Predictive | C | Supports Sensitivity Response | 1 | submitted | EID13230A 77 year old man with metastatic pancreatic ductal adenocarcinoma with somatic ATM R2034Ter mutation received off label olaparib after prior chemotherap. His disease remained stable for 18 months. PMID 40273902 · Vornhülz et al., 2025 · Open in CIViC | civic |
| ATM R2459C1 | ||||||||
| Doxorubicin | Chronic Lymphocytic Leukemia | Predictive | D | Supports Resistance | — | submitted | EID2833In an in vitro study using primary chronic lymphocytic leukemia (CLL) cells from patients with mutated (n=8) and wildtype (n=5) ATM, inhibition of cell growth was used as an assay to determine sensiti… (full text at CIViC) PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC | civic |
| ATM R3008C1 | ||||||||
| Doxorubicin | Chronic Lymphocytic Leukemia | Predictive | D | Supports Resistance | 3 | accepted | EID2223Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. The effect of the R3008C variant on ATM expression was tested by weste… (full text at CIViC) PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC | civic |
Data updated 12 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.
| Diagnostic |
| B |
| Supports Positive |
| 3 |
| accepted |
EID450Among patients with AML, those with mutations in ASXL1 were more likely to have the AML with myelodysplasia-related changes (AML-MRC) subtype. PMID 25412851 · Ohgami et al., 2015 · Open in CIViC |
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| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID1378In older patients (>59 years) with cytogenetically normal acute myeloid leukemia classified as ELN favorable, multivariate analysis identified ASXL1 mutations (12/99 patients) were associated with low… (full text at CIViC) PMID 22031865 · Metzeler et al., 2011 · Open in CIViC | civic |
| 〃 | Primary MyelofibrosisALIAS | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID1508An ASXL1 mutation, especially in conjunction with DNMT3A and EZH2 mutations, results in a fourfold increase in resistance to treatment with ruxolitinib and a reduced time to treatment discontinuation … (full text at CIViC) PMID 26124496 · Patel et al., 2015 · Open in CIViC | civic |
| 〃 | Myelodysplastic SyndromeCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 3 | submitted | EID6942In a study of 439 patients with myelodysplastic syndrome, patients with ASXL1 mutations (N=63) had worse overall survival than wildtype patients (N=376) (P=0.003 univariate). This difference was also … (full text at CIViC) PMID 21714648 · Bejar et al., 2011 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 2 | accepted | EID449In patients with acute myeloid leukemia, in a univariate analysis those with mutations in ASXL1 had worse overall survival than wild-type. PMID 25412851 · Ohgami et al., 2015 · Open in CIViC | civic |
In a mouse model, expression of kinase-dead ATM missense variants (D2880A and N2885K) combined with Cre-mediated inactivation of a conditional wild-type ATM allele generated Atm KD/− hematopoietic cel… (full text at CIViC)
PMID 27304073 · Yamamoto et al., 2016 · Open in CIViC
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| 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 |
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| Camptothecin | Lymphoma | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID12758In murine embryonic fibroblasts (MEFs), the authors expressed two ATM missense variants (D2880A and N2885K) and a hematopoietic stem cell specific Cre recombinase that inactivates the conditional ATM … (full text at CIViC) PMID 27304073 · Yamamoto et al., 2016 · Open in CIViC | civic |
| Doxorubicin | Chronic Lymphocytic Leukemia | Predictive | D | Supports Resistance | 4 | accepted | EID2222Primary cells from chronic lymphocytic leukemia patients were treated with doxorubicin to induce double-strand (DSB). In this setting, cells harboring rare ATM variants (n=8) had significantly higher … (full text at CIViC) PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC | civic |
| Olaparib | Castration-Resistant Prostate Carcinoma | Predictive | A | Supports Sensitivity Response | 4 | accepted | EID8505This study (PMID 32343890) by de Bono et al, is a randomized, open-label, phase 3 trial evaluating the PARP inhibitor olaparib in 387 men with metastatic castration-resistant prostate cancer (mCRPC) w… (full text at CIViC) PMID 32343890 · de Bono et al., 2020 · Open in CIViC | civic |
| 〃 | Hematopoietic and Lymphoid Cell NeoplasmALIAS | Predictive | D | Supports Sensitivity Response | 5 | accepted | EID455Olaparib was found to inhibit cancer cell growth in ATM mutant cell lines of several blood cancers including Lymphoblastoid Leukemia, Mantle Cell Lymphoma, Chronic Lymphocytic Leukemia, and in a murin… (full text at CIViC) PMID 20739657 · Weston et al., 2010 · Open in CIViC | civic |
| 〃 | 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 |
| Rucaparib | Castration-Resistant Prostate Carcinoma | Predictive | B | Does Not Support Sensitivity Response | 4 | accepted | EID13268In the exploratory ATM subgroup of the randomized phase III TRITON3 trial, 103 patients with metastatic castration-resistant prostate cancer harboring germline or somatic deleterious ATM alterations w… (full text at CIViC) PMID 36795891 · Fizazi et al., 2023 · Open in CIViC | civic |
| Enzalutamide + TalazoparibCombination | Castration-Resistant Prostate Carcinoma | Predictive | B | Does Not Support Sensitivity Response | 1 | submitted | EID11736This phase 3 study evaluated the PARP inhibitor talazoparib in combination with the androgen receptor inhibitor enzalutamide as a first-line treatment in patients with metastatic castration-resistant… (full text at CIViC) PMID 38049622 · Fizazi et al., 2024 · Open in CIViC | civic |
| Temozolomide | GlioblastomaCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID452Glioblastoma cell lines were shown to have increased sensitivity to Temozolomide when siRNA-induced ATM knockdown was applied. PMID 23960094 · Eich et al., 2013 · Open in CIViC | civic |
| 〃 | Melanoma | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID453Melanoma cell lines were shown to have increased sensitivity to Temozolomide when siRNA-induced ATM knockdown was applied. PMID 23960094 · Eich et al., 2013 · Open in CIViC | civic |