Publication
ATM mutations uniformly lead to ATM dysfunction in chronic lymphocytic leukemia: application of functional test using doxorubicin.
Authors not recorded
- Source
- PubMed
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CIVIC-20260908-000001
Abstract
Abstract (excerpt)
Only the opening of the abstract is shown; abstract text may carry publisher copyright.
Data not yet available
Linked entities
Linked entities (19)
How each link was made (MeSH, dictionary, registry reference, curation…) and whether it has been validated. Candidate links are not counted in entity statistics.
Validated 19
- cancerChronic Lymphocytic Leukemiacivic_curation1.00
- drugDoxorubicincivic_curation1.00
- geneATMcivic_curation1.00
- variantATM A2062Vcivic_curation1.00
- variantATM C2488Ycivic_curation1.00
- variantATM c.7089+1delcivic_curation1.00
- variantATM c.7515+1_2delcivic_curation1.00
- variantATM c.902-1G>Tcivic_curation1.00
- variantATM D1682Hcivic_curation1.00
- variantATM D1930Vcivic_curation1.00
- variantATM E2187*civic_curation1.00
- variantATM F1025Lcivic_curation1.00
- variantATM F2732Vcivic_curation1.00
- variantATM K293*civic_curation1.00
- variantATM K468FScivic_curation1.00
- variantATM L2427Pcivic_curation1.00
- variantATM Mutationcivic_curation1.00
- variantATM R3008Ccivic_curation1.00
- variantATM T2666Acivic_curation1.00
Curated evidence
Evidence citing this paper (24)
- Source
- CIViC — Clinical Interpretation of Variants in Cancer
- Dataset
- CIViC evidence items
- Version
- civic-2026-09-08
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- expert curation
- License
- CC0 1.0
- PMID
- 23585524
- Run
- ING-CIVIC-20260908-000001
| 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 Mutation1 | ||||||||
| 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 |
| 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 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 |