Hematologic Malignancy
Chronic Leukemia
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Hematologic Malignancy
CI-CAN-00000764Explore in graph →
Variants & evidence
99 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 |
|---|---|---|---|---|---|---|---|---|
| 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 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 Mutation3 | ||||||||
| (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 |
| Doxorubicin | Chronic Lymphocytic Leukemia | Predictive | D | Supports Resistance | 4 | accepted | ||
| 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 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 |
| ATM R777FS1 | ||||||||
| Doxorubicin | Chronic Lymphocytic Leukemia | Predictive | D | Supports Resistance | — | submitted | EID2842In 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 T2666A1 | ||||||||
| Doxorubicin | Chronic Lymphocytic Leukemia | Predictive | D | Supports Resistance | 3 | accepted | EID2221Primary peripheral blood mononuclear cells were taken from chronic lymphocytic leukemia patients, some of whom had prior therapy. Cells were treated with doxorubicin to induce double-strand (DSB) and … (full text at CIViC) PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC | civic |
| ATM Underexpression1 | ||||||||
| (prognostic) | Chronic Lymphocytic Leukemia | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID156443 B-CLL patients with LoH or reduced protein levels (<50% normal expression, radioimmunoassay, western blot) of ATM were found to have significantly shorter overall survival (35.6 vs. 97.3 months; P=… (full text at CIViC) PMID 9788599 · Starostik et al., 1998 · Open in CIViC | civic |
| ATM V1268FS1 | ||||||||
| Doxorubicin | Chronic Lymphocytic Leukemia | Predictive | D | Supports Resistance | — | submitted | EID2844In 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 |
| AXIN2 rs1433488531 | ||||||||
| (predisposing) | Chronic Lymphocytic Leukemia | Predisposing | A | Supports Protectiveness | 5 | submitted | EID12065The germline variant rs143348853 (5bp deletion), creates MEF2 transcription factor binding site, which induces activity in the locus around AXIN2 gene and associates with elevated AXIN2 expression. In… (full text at CIViC) PMID 35440565 · Llimos et al., 2022 · Open in CIViC | civic |
| BCL2 A113G1 | ||||||||
| Venetoclax | Chronic Lymphocytic Leukemia | Predictive | C | Supports Resistance | 3 | submitted | EID8308This study is a follow-up report after the original publication (PMID 30514704). A113G mutation was identified in combination with other BCL2 mutations including G101V in 3 CLL patients with venetocla… (full text at CIViC) PMID 31951646 · Blombery et al., 2020 · Open in CIViC | civic |
| BCL2 D103E2 | ||||||||
| Venetoclax | Chronic Lymphocytic Leukemia | Predictive | C | Supports Resistance | 3 | submitted | EID8311This study is a follow-up report after the original publication (PMID 30514704). D103E mutation was identified in combination with other BCL2 mutations including G101V in 4 CLL patients with venetocla… (full text at CIViC) PMID 31951646 · Blombery et al., 2020 · Open in CIViC | civic |
| 〃 | Chronic Lymphocytic Leukemia | Predictive | D | Supports Resistance | 3 | submitted | EID8335The authors demonstrated that BCL2 Asp103Glu imparts resistance to venetoclax in vitro by investigating the in vitro binding profile of the Asp103Glu to both venetoclax and proapoptotic proteins in co… (full text at CIViC) PMID 31951646 · Blombery et al., 2020 · Open in CIViC | civic |
| BCL2 D103V1 | ||||||||
| Venetoclax | Chronic Lymphocytic Leukemia | Predictive | C | Supports Resistance | 3 | submitted | EID8310This study is a follow-up report after the original publication (PMID 30514704). D103V mutation was identified in combination with other BCL2 mutations including G101V in 2 CLL patients with venetocla… (full text at CIViC) PMID 31951646 · Blombery et al., 2020 · Open in CIViC | civic |
| BCL2 D103Y2 | ||||||||
| Venetoclax | Chronic Lymphocytic Leukemia | Predictive | B | Supports Resistance | 4 | submitted | EID8312This study is a follow-up report after the original publication (PMID 30514704). D103Y mutation was identified in combination with other BCL2 mutations including G101V in 5 CLL patients with venetocla… (full text at CIViC) PMID 31951646 · Blombery et al., 2020 · Open in CIViC | civic |
| 〃 | Chronic Lymphocytic Leukemia | Predictive | C | Supports Resistance | 2 | submitted | EID8304This study identified D103Y in one CLL patient with resistance to venetoclax. D103Y was presented in this patient after 39 months of venetoclax treatment in peripheral blood with a VAF of 7% which inc… (full text at CIViC) PMID 31004028 · Tausch et al., 2019 · Open in CIViC | civic |
| BCL2 G101V6 | ||||||||
| Venetoclax | Chronic Lymphocytic Leukemia | Predictive | B | Supports Resistance | 4 | submitted | EID8174This study identified G101V mutation in BCL2 emerged in 7 out of 15 patients with CLL progression treated with Venetoclax. In addition, this study demonstrated that the G101V mutation impairs binding … (full text at CIViC) PMID 30514704 · Blombery et al., 2019 · Open in CIViC | civic |
| 〃 | Chronic Lymphocytic Leukemia | Predictive | C | Supports Resistance | 4 | submitted | EID7970Four of six heavily pretreated, high-risk CLL patients with a 17p deletion from the phase 2 trial M13-9824 with continuous venetoclax treatment, who were treated with venetoclax for a period longer th… (full text at CIViC) PMID 31004028 · Tausch et al., 2019 · Open in CIViC | civic |
| 〃 | Chronic Lymphocytic Leukemia | Predictive | C | Supports Resistance | ||||
| BCL2 R107_R110dup1 | ||||||||
| Venetoclax | Chronic Lymphocytic Leukemia | Predictive | B | Supports Resistance | 4 | submitted | EID8309This study is a follow-up report after the original publication (PMID 30514704). R107_R110dup mutation was identified in combination with other BCL2 mutations including G101V in 5 CLL patients with ve… (full text at CIViC) PMID 31951646 · Blombery et al., 2020 · Open in CIViC | civic |
| BCL2 R129L1 | ||||||||
| Venetoclax | Chronic Lymphocytic Leukemia | Predictive | C | Supports Resistance | 3 | submitted | EID8307This study is a follow-up report after the original publication (PMID 30514704). R129L mutation was identified in combination with other BCL2 mutations including G101V in 2 CLL patients with venetocla… (full text at CIViC) PMID 31951646 · Blombery et al., 2020 · Open in CIViC | civic |
| BCL2 V156D1 | ||||||||
| Venetoclax | Chronic Lymphocytic Leukemia | Predictive | B | Supports Resistance | 4 | submitted | EID8306This study is a follow-up report after the original publication (PMID 30514704). V156D mutation was identified in combination with other BCL2 mutations including G101V in 6 CLL patients with venetocla… (full text at CIViC) PMID 31951646 · Blombery et al., 2020 · Open in CIViC | civic |
| BIRC3 TRUNCATING MUTATION1 | ||||||||
| (prognostic) | Chronic Lymphocytic Leukemia | Prognostic | B | Supports Poor Outcome | 2 | accepted | EID1488BIRC3 mutations were identified in 23 of 919 screened CLLs. They are strongly linked to non-mutated IGHV genes (18/23, P = 0.0001), a widely recognized prognostic signature for poor outcome. PMID 24943832 · Baliakas et al., 2015 · Open in CIViC | civic |
| BRAF V600E6 | ||||||||
| (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 |
| 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… (full text at CIViC) PMID 26352686 · Tiacci et al., 2015 · Open in CIViC | civic |
| 〃 | 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/… | |
Data updated 8 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.
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 |
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EID8305This study is a follow-up report after the original publication (PMID 30514704). The authors described multiple acquired resistance mutations including G101V in BCL-2 that occur in different CLL cells… (full text at CIViC) PMID 31951646 · Blombery et al., 2020 · Open in CIViC |
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| 〃 | Chronic Lymphocytic Leukemia | Predictive | C | Does Not Support Resistance | 3 | submitted | EID8303Previous work by this group used WES and was unable to identify BCL2 G101V mutation in 9 CLL patients with resistance to venetoclax (PMID 29463802). Based on Tausch et al work (PMID 31004028), this gr… (full text at CIViC) PMID 31666345 · Weiss et al., 2019 · Open in CIViC | civic |
| 〃 | Chronic Lymphocytic Leukemia | Predictive | D | Supports Resistance | 3 | submitted | EID8334This study demonstrated that the G101V mutation impairs binding of venetoclax to BCL2, confers resistance to venetoclax in both patient leukemia cells and engineered cell lines, thus provides a select… (full text at CIViC) PMID 30514704 · Blombery et al., 2019 · Open in CIViC | civic |
| 〃 | Chronic Lymphocytic Leukemia | Predictive | D | Supports Resistance | 3 | accepted | EID8841This study described the similar crystal structures of BCL-2 wild-type and G101V when bound to venetoclax. Steady state competition surface plasmon resonance experiments demonstrated a ~177 fold decre… (full text at CIViC) PMID 31160589 · Birkinshaw et al., 2019 · Open in CIViC | civic |
PMID 26352686 · Tiacci et al., 2015 · Open in CIViC
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| 〃 | 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 |