BCR/ABL1 Fusion Gene

Preferred Label : BCR/ABL1 Fusion Gene;

NCIt synonyms : BCR-ABL; BCR-ABL Oncogene; BCR-ABL1 Fusion Gene; BCR-ABL Fusion Gene; BCR/ABL Translocation; BCR-ABL Translocation Mutation; BCR-ABL Rearrangement; BCR-ABL1 Translocation; BCR::ABL1 Fusion Gene;

NCIt definition : A fusion gene that results from a translocation t(9;22)(q34;q11) that fuses the 5' part of the BCR gene to the 5' side of exon 2 of the ABL1 gene. There are 3 potential products that are formed depending on which BCR exon has the breakpoint. All of the protein products have constitutively active tyrosine kinase activity. This fusion is associated with both chronic myeloid leukemia and acute lymphoblastic leukemia.;

Alternative definition : NCI-GLOSS: A gene formed when pieces of chromosomes 9 and 22 break off and trade places. The ABL gene from chromosome 9 joins to the BCR gene on chromosome 22, to form the BCR-ABL fusion gene. The changed chromosome 22 with the fusion gene on it is called the Philadelphia chromosome. The BCR-ABL fusion gene is found in most patients with chronic myelogenous leukemia (CML), and in some patients with acute lymphoblastic leukemia (ALL) or acute myelogenous leukemia (AML).;

Codes from synonyms : CDR0000561237;

Details

Origin ID

C94600;

UMLS CUI

C1835417;

Currated CISMeF NLP mapping
- BCR-ABL [OBSOLETE LOINC component]
- BCR/ABL [OBSOLETE LOINC component]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CPTAC Acute Myeloid Leukemia Baseline Form [NCIt concept]
- CPTAC Baseline Medical Forms Terminology [NCIt concept]
- CPTAC Terminology [NCIt concept]
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- BCR/ABL1 Fusion Protein [NCIt concept]
- BCR/ABL1 Fusion Protein p190 [NCIt concept]
- BCR/ABL1 Fusion Protein p210 [NCIt concept]
- BCR/ABL1 Fusion Protein p230 [NCIt concept]
- BCR/ABL1 Fusion Protein with ABL1 NP_005148.2:p.D276G [NCIt concept]
- BCR/ABL1 Fusion Protein with ABL1 NP_005148.2:p.E255K [NCIt concept]
- BCR/ABL1 Fusion Protein with ABL1 NP_005148.2:p.E255V [NCIt concept]
- BCR/ABL1 Fusion Protein with ABL1 NP_005148.2:p.E279K [NCIt concept]
- BCR/ABL1 Fusion Protein with ABL1 NP_005148.2:p.F317L [NCIt concept]
- BCR/ABL1 Fusion Protein with ABL1 NP_005148.2:p.F359V [NCIt concept]
- BCR/ABL1 Fusion Protein with ABL1 NP_005148.2:p.F486S [NCIt concept]
- BCR/ABL1 Fusion Protein with ABL1 NP_005148.2:p.G250E [NCIt concept]
- BCR/ABL1 Fusion Protein with ABL1 NP_005148.2:p.G398R [NCIt concept]
- BCR/ABL1 Fusion Protein with ABL1 NP_005148.2:p.H396P [NCIt concept]
- BCR/ABL1 Fusion Protein with ABL1 NP_005148.2:p.H396R [NCIt concept]
- BCR/ABL1 Fusion Protein with ABL1 NP_005148.2:p.L248V [NCIt concept]
- BCR/ABL1 Fusion Protein with ABL1 NP_005148.2:p.L384M [NCIt concept]
- BCR/ABL1 Fusion Protein with ABL1 NP_005148.2:p.M351T [NCIt concept]
- BCR/ABL1 Fusion Protein with ABL1 NP_005148.2:p.Q252H [NCIt concept]
- BCR/ABL1 Fusion Protein with ABL1 NP_005148.2:p.T315A [NCIt concept]
- BCR/ABL1 Fusion Protein with ABL1 NP_005148.2:p.T315I [NCIt concept]
- BCR/ABL1 Fusion Protein with ABL1 NP_005148.2:p.V299L [NCIt concept]
- BCR/ABL1 Fusion Protein with ABL1 NP_005148.2:p.Y253F [NCIt concept]
gene_has_abnormality
- t(9;22)(q34.1;q11.2) [NCIt concept]
gene_involved_in_molecular_abnormality
- BCR-ABL TKI-Resistant Mutation [NCIt concept]
- BCR-ABL1 Fusion Protein Expression [NCIt concept]
- Philadelphia Chromosome [NCIt concept]
- p190 Fusion Protein Expression [NCIt concept]
- p210 Fusion Protein Expression [NCIt concept]
- p230 Fusion Protein Expression [NCIt concept]
- t(9;22)(q34.1;q11.2) [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Acute Myeloid Leukemia with BCR-ABL1 [NCIt concept]
- B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1 [NCIt concept]
- Chronic Myeloid Leukemia, BCR-ABL1 Positive [NCIt concept]
- Mixed Phenotype Acute Leukemia with BCR-ABL1 Fusion [NCIt concept]
gene_mapped_to_disease
- Accelerated Phase Chronic Myeloid Leukemia, BCR-ABL1 Positive [NCIt concept]
- Acute Myeloid Leukemia with BCR-ABL1 [NCIt concept]
- Adult B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 [NCIt concept]
- B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 [NCIt concept]
- B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 with Lymphoid Only Involvement [NCIt concept]
- B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 with Multilineage Involvement [NCIt concept]
- B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1 [NCIt concept]
- Blast Phase Chronic Myeloid Leukemia, BCR-ABL1 Positive [NCIt concept]
- Childhood B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 [NCIt concept]
- Childhood Chronic Myeloid Leukemia, BCR-ABL1 Positive [NCIt concept]
- Chronic Myeloid Leukemia, BCR-ABL1 Positive [NCIt concept]
- Chronic Myeloid Leukemia, Philadelphia Chromosome Negative, BCR-ABL1 Positive [NCIt concept]
- Chronic Myeloid Leukemia, Philadelphia Chromosome Positive, BCR-ABL1 Positive [NCIt concept]
- Chronic Phase Chronic Myeloid Leukemia, BCR-ABL1 Positive [NCIt concept]
- Chronic Phase Chronic Myeloid Leukemia, Philadelphia Chromosome Positive, BCR-ABL1 Positive [NCIt concept]
- Meningeal Chronic Myeloid Leukemia, BCR-ABL1 Positive [NCIt concept]
- Mixed Phenotype Acute Leukemia with BCR-ABL1 Fusion [NCIt concept]
- Recurrent Accelerated Phase Chronic Myeloid Leukemia, BCR-ABL1 Positive [NCIt concept]
- Recurrent B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 [NCIt concept]
- Recurrent Chronic Myeloid Leukemia, BCR-ABL1 Positive [NCIt concept]
- Refractory Accelerated Phase Chronic Myeloid Leukemia, BCR-ABL1 Positive [NCIt concept]
- Refractory B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 [NCIt concept]
- Refractory Chronic Myeloid Leukemia, BCR-ABL1 Positive [NCIt concept]
- Splenic Manifestation of Chronic Myeloid Leukemia, BCR-ABL1 Positive [NCIt concept]
gene_plays_role_in_process
- Signal Transduction [NCIt concept]
- Tyrosine Phosphorylation [NCIt concept]
genetic_biomarker_related_to
- BCR/ABL1 Fusion Negative [NCIt concept]
- BCR/ABL1 Fusion Protein Negative [NCIt concept]
- BCR/ABL1 b2a2 Type Fusion Protein [Presence] in Blood or Tissue by Molecular Genetics Method [NCIt concept]
- t(9;22)(q34.1;q11)(ABL1/BCR) Fusion Transcript in Blood or Tissue by FISH [NCIt concept]
related_to_genetic_biomarker
- ABL1 Gene [NCIt concept]
- BCR Gene [NCIt concept]

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