Cancer Family
Neoplasm
CI-CAN-00000001Explore in graph →
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Cancer Family
CI-CAN-00000001Explore in graph →
Variants & evidence
8,147 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 |
|---|---|---|---|---|---|---|---|---|
| BCOR ITD7 | ||||||||
| (diagnostic) | Clear Cell Sarcoma of the KidneyALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID11423High BCOR expression which was associated with an internal tandem duplication (ITD) of 89 to 144 bp in exon 16 of the BCOR gene was identified in 20 of 20 (100%) of cases of clear cell sarcoma of the … (full text at CIViC) PMID 26098867 · Ueno-Yokohata et al., 2015 · Open in CIViC | civic |
| 〃 | Sarcoma | Diagnostic | B | Supports Positive | 4 | submitted | EID11524Twenty nine cases of infantile sarcoma cases, including 22 cases of soft tissue undifferentiated round cell sarcoma (URCS) and 7 cases of primitive myxoid mesenchymal tumour, were profiled using RNA s… (full text at CIViC) PMID 26945340 · Kao et al., 2016 · Open in CIViC | civic |
| 〃 | Sarcoma | Diagnostic | B | Supports Positive | 4 | submitted | EID11525Thirty three cases of undifferentiated round cell sarcoma with either BCOR internal tandem duplication or YWHAE fusions were reviewed in this cohort, comprising 31 infants and two adolescents. Of the … (full text at CIViC) PMID 32372022 · Antonescu et al., 2020 · Open in CIViC | civic |
| 〃 | Central Nervous System Tumor with BCOR Internal Tandem Duplication | Diagnostic | B | Supports Positive | 3 | accepted | EID1088710 cases of high-grade neuroepithelial tumor (HGNET) with BCOR exon 15 ITD were studied. In addition, 25 previously reported and published patients were included in survival analyses. These tumors ar… (full text at CIViC) PMID 31104347 · Ferris et al., 2020 · Open in CIViC | civic |
| 〃 | Clear Cell Sarcoma of the KidneyALIAS | Diagnostic | B | Supports Positive | 3 | accepted | EID11424Whole transcriptome sequencing on tumors from 8 patients with clear cell sarcoma of the kidney identified BCOR ITD and overexpression of BCOR in all samples. The BCOR ITD was confirmed on tumor DNA.… (full text at CIViC) PMID 26516930 · Astolfi et al., 2015 · Open in CIViC | civic |
| 〃 | Central Nervous System Tumor with BCOR Internal Tandem Duplication | Diagnostic | B | Supports Positive | 3 | accepted | EID11581Six cases of CNS high-grade neuroepithelial tumor (HGNET) with BCOR exon 15 internal tandem duplication (ITD) were studied. The authors analyzed their clinical, pathologic and molecular characteristic… (full text at CIViC) PMID 29226988 · Yoshida et al., 2018 · Open in CIViC | civic |
| 〃 | Sarcoma | Diagnostic | B | Supports Positive | 3 | accepted | EID11589BCOR expression was evaluated in a cohort of 25 small blue round cell tumors (SBRCTs) with BCOR fusions (BCOR::MAML3, BCOR::CCNB3), BCOR exon 15 ITDs, or YWHAE-NUTM2B fusion (which is known to upregul… (full text at CIViC) PMID 27428733 · Kao et al., 2016 · Open in CIViC | civic |
| BCOR Mutation2 | ||||||||
| (prognostic) | Myelodysplastic SyndromeCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | submitted | EID7450Multivariate analysis on 354 MDS patients including age, International Prognostic Scoring System, transfusion dependency, and mutational status confirmed a significant inferior OS to patients with a B… (full text at CIViC) PMID 24047651 · Damm et al., 2013 · Open in CIViC | civic |
| 〃 | Malignant Gastric Neoplasm | Prognostic | B | Supports Better Outcome | 3 | accepted | EID168146 patients with poorly cohesive, signet-cell ring, gastric carcinoma were evaluated for genetic mutations. Overall survival rate of BCOR positive cases were significantly better than BCOR negative c… (full text at CIViC) PMID 27313181 · Rokutan et al., 2016 · Open in CIViC | civic |
| ABL1 Fusion26 | ||||||||
| (diagnostic) | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Diagnostic | A | Supports Positive | 4 | accepted | EID220In this 2010 review, the authors highlighted the central diagnostic and pathogenic role of the BCR::ABL1 fusion gene in Chronic Myeloid Leukemia (CML), emphasizing that its presence is the characteriz… (full text at CIViC) PMID 20537386 · An et al., 2010 · Open in CIViC | civic |
| 〃 | Acute Myeloid Leukemia with BCR-ABL1 | Diagnostic | B | Supports Positive | 4 | accepted | EID12046In this 2007 study, the authors identified 38 cases of t(9;22)(q34;q11), also known as Philadelphia positive (Ph+), acute leukemia of myeloid origin. However, 18 cases were excluded as they displayed … (full text at CIViC) PMID 17369142 · Soupir et al., 2007 · Open in CIViC | civic |
| 〃 | Acute Myeloid Leukemia with BCR-ABL1 | Diagnostic | ||||||
| ABL1 A365V + ABL1 Fusion1 | ||||||||
| Dasatinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | C | Supports Sensitivity Response | 2 | submitted | EID4700In a retrospective study of 1084 imatinib-resistant or -intolerant, chronic myeloid leukemia (chronic-phase) patients, patients with a mutation in the ABL1 portion of the BCR-ABL gene fusion were asso… (full text at CIViC) PMID 19779040 · Müller et al., 2009 · Open in CIViC | civic |
| ABL1 A366G + ABL1 Fusion1 | ||||||||
| Dasatinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | C | Supports Sensitivity Response | 2 | submitted | EID4701In a retrospective study of 1084 imatinib-resistant or -intolerant, chronic myeloid leukemia (chronic-phase) patients, patients with a mutation in the ABL1 portion of the BCR-ABL gene fusion were asso… (full text at CIViC) PMID 19779040 · Müller et al., 2009 · Open in CIViC | civic |
| ABL1 A397P + ABL1 Fusion3 | ||||||||
| Dasatinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | C | Supports Sensitivity Response | 2 | submitted | EID4709In a retrospective study of 1084 imatinib-resistant or -intolerant, chronic myeloid leukemia (chronic-phase) patients, patients with a mutation in the ABL1 portion of the BCR-ABL gene fusion were asso… (full text at CIViC) PMID 19779040 · Müller et al., 2009 · Open in CIViC | civic |
| 〃 | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | C | Does Not Support Resistance | 1 | accepted | EID4710In this phase II multinational study, patients with accelerated phase CML and BCR-ABL fusions were treated with dasatinib monotherapy. Response rate among 60 imatinib-resistant patients with BCR-ABL m… (full text at CIViC) PMID 17264298 · Guilhot et al., 2007 · Open in CIViC | civic |
| Imatinib Mesylate | Chronic Myeloid Leukemia, BCR-ABL1 Positive | |||||||
| ABL1 D276G + ABL1 Fusion8 | ||||||||
| Axitinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | D | Supports Resistance | 2 | accepted | EID4360In a proliferation assay measuring tritiated thymidine incorporation in the presence of axitinib, Ba/F3 cells carrying the BCR-ABL1 variant showed increased incorporations when harboring fusions with … (full text at CIViC) PMID 25686603 · Pemovska et al., 2015 · Open in CIViC | civic |
| Bosutinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | C | Does Not Support Resistance | 1 | accepted | EID4357In this retrospective study, imatinib-resistant or -intolerant patients, with chronic phase CML and BCR-ABL fusions, were treated with bosutanib monotherapy. Complete hematologic response (CHR) and ma… (full text at CIViC) PMID 21865346 · Cortes et al., 2011 · Open in CIViC | civic |
| 〃 | Chronic Myeloid Leukemia, BCR-ABL1 Positive | |||||||
| ABL1 D363G + ABL1 Fusion2 | ||||||||
| Dasatinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID4692Prior to dasatinib treatment, one imatinib-resistant patient with chronic myeloid leukemia in chronic phase had the BCR-ABL1 fusion with the D363G secondary variant in 2/10 bacterial clones generated … (full text at CIViC) PMID 16775234 · Talpaz et al., 2006 · Open in CIViC | civic |
| Imatinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | C | Supports Resistance | 1 | accepted | EID7820One chronic myeloid leukemia patient in chronic phase had a partial best cytogenetic response to imatinib but became resistant. Bacterial clones generated using peripheral blood RNA revealed the BCR-A… (full text at CIViC) PMID 16775234 · Talpaz et al., 2006 · Open in CIViC | civic |
Data updated 19 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.
| Supports Positive |
| 4 |
| accepted |
EID12047In this 1996 study, the authors identified 11 cases of t(9;22)(q34;q11), also known as Philadelphia chromosome [BCR::ABL1], positive acute myeloid leukaemia (AML) from approximately 700 cases that had… (full text at CIViC) PMID 8952155 · Cuneo et al., 1996 · Open in CIViC |
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| 〃 | Acute Myeloid Leukemia with BCR-ABL1 | Diagnostic | B | Supports Positive | 4 | accepted | EID12048In this 2010 study, the authors included 5876 acute myeloid leukaemia (AML) cases with successful karyotype analysis. The cytogenetic aberration t(9;22)(q34;q11) [known to result in a BCR::ABL1 fusion… (full text at CIViC) PMID 20385793 · Grimwade et al., 2010 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1ALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID12088In this 1999 study the authors included 1322 B-lymphoblastic leukemia (B-ALL) cases in patients under the age of 21 years. Cytogenetic data showed that 30 cases (2.3%) had the t(9;22)(q34;q11) known t… (full text at CIViC) PMID 10194126 · Uckun et al., 1999 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1ALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID12089In this 1991 study the authors included 363 children diagnosed with B-lymphoblastic leukemia (B-ALL). Cytogenetic analysis idenitified a t(9;22) (q34;q11) also known as BCR::ABL1 in 15 cases (4.1%). T… (full text at CIViC) PMID 1991160 · Fletcher et al., 1991 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1ALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID12090In this large 2022 landscape study the authors include 2,754 children, adolescents and young adults (AYA) with newly diagnosed B-ALL (n=2,288 cases) or T-ALL (n=466). Median age at diagnosis was 6.4 y… (full text at CIViC) PMID 36050548 · Brady et al., 2022 · Open in CIViC | civic |
| (prognostic) | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Prognostic | B | Supports N/A | 4 | submitted | EID12434Whole-genome sequencing of single-cell-derived hematopoietic clones from chronic myeloid leukemia (CML) patients revealed that the BCR::ABL1 fusion is acquired 3 to 14 years prior to clinical diagnosi… (full text at CIViC) PMID 40205062 · Kamizela et al., 2025 · Open in CIViC | civic |
| (diagnostic) | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID12526In this 2016 study, the authors analyzed 398 newly diagnosed Chronic Myeloid Leukemia (CML) patients, identifying 12 (3%) cases that lacked the Philadelphia (Ph) chromosome by conventional cytogenetic… (full text at CIViC) PMID 28404889 · Luatti et al., 2017 · Open in CIViC | civic |
| 〃 | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID12589In this 2009 study, the authors included 336 chronic myeloid leukemia (CML) patients at diagnosis, of which 25 patients (7.44%) exhibited variant Philadelphia (Ph) chromosome translocations. A control… (full text at CIViC) PMID 19737651 · Bennour et al., 2009 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1ALIAS | Diagnostic | B | Supports Positive | 3 | accepted | EID12087In this 1986 study the authors included 329 newly diagnosed patients with B-lymphoblastic leukemia (B-ALL), including 157 children and 172 adults. Cytogenetic analysis detected a t(9;22)(q34;q11) abno… (full text at CIViC) PMID 3455828 · Bloomfield et al., 1986 · Open in CIViC | civic |
| 〃 | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Diagnostic | C | Does Not Support Positive | 2 | accepted | EID213Data from deep sequencing of a Ph-negative clone of a Ph-positive CML patient has found a driving mutation in DNMT3A that preceeded the BCR-ABL fusion, and may imply the possibility that BCR-ABL is no… (full text at CIViC) PMID 25212276 · Schmidt et al., 2014 · Open in CIViC | civic |
| Asciminib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | A | Supports Sensitivity Response | 4 | submitted | EID11223233 patients aged 18 or older who had Ph+ CML and were previously treated with two or more tyrosine kinase inhibitors were recruited to an open-label, multicentre phase 3 trial. The patients were rand… (full text at CIViC) PMID 34407542 · Réa et al., 2021 · Open in CIViC | civic |
| 〃 | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | A | Supports Sensitivity Response | 4 | submitted | EID12213In the phase 3 ASC4FIRST trial (NCT04971226), patients with newly diagnosed Ph+ CML were randomized 1:1 to receive either asciminib (n=201) or an investigator-selected TKI (n=204). At week 48, major m… (full text at CIViC) PMID 38820078 · Hochhaus et al., 2024 · Open in CIViC | civic |
| Bosutinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | A | Supports Sensitivity Response | 4 | submitted | EID11224536 patients with CML, 487 of which were Philadelphia chromosome-positive were enlisted to a multicentre, open-label phase 3 trial assessing the efficacy and safety of bosutinib. The patients were ran… (full text at CIViC) PMID 29091516 · Cortes et al., 2018 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Predictive | A | Supports Sensitivity Response | 4 | submitted | EID11287In a phase I/II, open-label trial, 570 patients with Philadelphia chromosome–positive CML were enrolled. Patient cohorts included second-line chronic phase (CP) CML (n = 286), third-/fourth-line CP CM… (full text at CIViC) PMID 24345751 · Kantarjian et al., 2014 · Open in CIViC | civic |
| Dasatinib | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Predictive | A | Supports Sensitivity Response | 4 | submitted | EID11235In a phase 2, open-label trial, a cohort of 78 patients with BCR-ABL positive ALL received 60 mg/m2 of dasatinib daily for up to 24 months in combination with chemotherapy (AIEOP-BFM ALL 2000 multi-ag… (full text at CIViC) | civic |
| 〃 | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | C | Supports Sensitivity Response | 4 | accepted | EID4706Prior to dasatanib treatment, fifteen imatinib-resistant patients with chronic myeloid leukemia in various phases had the BCR-ABL1 fusion with no secondary variants in at least ten clones generated us… (full text at CIViC) PMID 16775234 · Talpaz et al., 2006 · Open in CIViC | civic |
| 〃 | Acute Lymphoblastic Leukemia | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID4436Prior to dasatinib treatment, one imatinib-resistant patient with acute lymphoblastic leukemia had the BCR-ABL1 fusion with no secondary variants in at least ten bacterial clones generated using perip… (full text at CIViC) PMID 16775234 · Talpaz et al., 2006 · Open in CIViC | civic |
| Imatinib | Acute Myeloid LeukemiaCURATED_BROADER | Predictive | A | Supports Sensitivity Response | 5 | accepted | EID259Treatment of Philadelphia chromosome positive leukemias with imatinib results in high rates of complete remission in patients with CML. PMID 12476305 · Nimmanapalli et al., 2002 · Open in CIViC | civic |
| 〃 | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | A | Supports Sensitivity Response | 5 | accepted | EID260The clinical use of imatinib in patients with BCR-ABL fusion has resulted in drastic prognostic improvements in patients with CML. PMID 20537386 · An et al., 2010 · Open in CIViC | civic |
| 〃 | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | A | Supports Sensitivity Response | 5 | accepted | EID344BCR-ABL inhibitors such as imatinib have lead to significantly improved prognosis, response rate, overall survival, and patient outcome in CML patients compared to previous therapeutic regimens. PMID 20537386 · An et al., 2010 · Open in CIViC | civic |
| 〃 | Acute Myeloid LeukemiaCURATED_BROADER | Predictive | D | Supports Resistance | 3 | accepted | EID232BCR-ABL fusions have been found to contribute to imatinib resistance in AML cell lines. PMID 12476305 · Nimmanapalli et al., 2002 · Open in CIViC | civic |
| Nilotinib | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Predictive | A | Supports Sensitivity Response | 4 | submitted | EID11288In this phase 1 dose-escalation study, 119 patients with imatinib-resistant, Ph-positive CML or acute lymphoblastic leukemia (ALL) to receive nilotinib orally at doses of 50 mg, 100 mg, 200 mg, 400 mg… (full text at CIViC) PMID 16775235 · Kantarjian et al., 2006 · Open in CIViC | civic |
| Dasatinib + NilotinibSubstitutes | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | A | Supports Sensitivity Response | 4 | accepted | EID261The use of nilotinib and dasatinib, second-generation BCR-ABL targeted therapies, has been effective in patients resistant to imatinib, leading to their FDA-approval. PMID 20537386 · An et al., 2010 · Open in CIViC | civic |
| Bafetinib + Dasatinib + NilotinibSubstitutes | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID7838In an in vitro study, six CML cell lines expressing the BCR-ABL1 fusion protein showed sensitivity to nilotinib (IC50: 24.3-84.5 nM), dasatinib (IC50: 1.5-10.9 nM), and bafetinib (IC50: 11.8-87.7 nM).… (full text at CIViC) PMID 18191450 · Deguchi et al., 2008 · Open in CIViC | civic |
| Predictive |
| C |
| Supports Resistance |
| 1 |
| accepted |
EID7034In a phase II study of 60 imatinib-resistant patients with BCR-ABL mutations, 2 had A397P mutations. Both patients with A397P mutation achieved major hematologic response, and one also had major cytog… (full text at CIViC) PMID 17264298 · Guilhot et al., 2007 · Open in CIViC |
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| Predictive |
| D |
| Supports Sensitivity Response |
| 2 |
| submitted |
EID4356In an in vitro study, a Ba/F3 murine cell line stably expressing the D276G mutation in the ABL1 portion of the BCR-ABL1 fusion protein was associated with increased sensitivity to bosutinib treatment… (full text at CIViC) PMID 19075254 · Redaelli et al., 2009 · Open in CIViC |
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| Dasatinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | C | Does Not Support Resistance | 3 | accepted | EID4359This is a retrospective study of imatinib-resistant (n = 805) or -intolerant (n = 238), chronic myeloid leukemia (chronic-phase), patients with mutations in the BCR-ABL gene fusion kinase domain from … (full text at CIViC) PMID 19779040 · Müller et al., 2009 · Open in CIViC | civic |
| 〃 | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | D | Supports Sensitivity Response | 2 | submitted | EID4358In an in vitro study, a Ba/F3 cell line stably expressing the D276G mutation in the ABL1 portion of the BCR-ABL1 fusion protein was associated with sensitivity to dasatinib treatment (IC50: 2.63nM vs.… (full text at CIViC) PMID 19075254 · Redaelli et al., 2009 · Open in CIViC | civic |
| Imatinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | D | Supports Resistance | 2 | accepted | EID2663A panel of 18 mutations representing 85% of known mutations seen in imatinib CML patents were used to evaluate the effectiveness of drug binding. All mutations were compared with non-mutated BCR-ABL p… (full text at CIViC) PMID 19075254 · Redaelli et al., 2009 · Open in CIViC | civic |
| Imatinib Mesylate | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | D | Supports Resistance | 2 | accepted | EID6246In an in vitro study, stochastic mutations were introduced into the ABL1 region of a stably expressed p210 BCR-ABL fusion in Ba/F3 cells using N-ethyl-N-nitrosourea mutagenesis. Resulting clones were … (full text at CIViC) PMID 16772610 · Bradeen et al., 2006 · Open in CIViC | civic |
| Nilotinib | Chronic Myeloid Leukemia, BCR-ABL1 PositiveALIAS | Predictive | D | Supports Sensitivity Response | 2 | accepted | EID2666In an in vitro study, a Ba/F3 cell line stably expressing the D276G mutation in the ABL1 portion of the BCR-ABL1 fusion protein was associated with sensitivity to nilotinib treatment (IC50: 2.00-fold… (full text at CIViC) PMID 19075254 · Redaelli et al., 2009 · Open in CIViC | civic |