Our BCR/ABL1/ASS1 fusion probe is designed to detect fusions between BCR and ABL1 (the ASS1 probe is included to differentiate random signal overlap from genuine BCR-ABL1 fusion in interphase cells). The probe comes labeled in green, red and aqua, but can be customized to meet your needs.
Gene Background: The BCR-ABL1 fusion gene, also known as the Philadelphia Chromosome, was the first genetic abnormality to be considered a biomarker for a specific cancer.1 First identified in 1960 in chronic myeloid leukemia cells, the fusion is formed via a reciprocal translation between the Abelson (ABL1) gene and the Breakpoint Cluster Region (BCR) gene.1 The fusion encodes a constitutively activated tyrosine kinase protein, which causes abnormal cell proliferation, angiogenesis, metastasis, and deregulated apoptotic response in cells, all which contribute to leukemia development.2 BCR-ABL1 is found in virtually all cases of chronic myeloid leukemia (CML), and is also the most common cytogenetic aberration in adults with acute lymphoblastic leukemia (ALL), occurring in roughly 25% of cases.3 Prevalence rises with age; approximately 50% of ALL patients over the age of 50 harbor the fusion, but it’s only found in 5% of pediatric patients.4
** This product is for in vitro and research use only. This product is not intended for diagnostic use.
Gene Summary
A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this translocation is located within the BCR gene. The translocation produces a fusion protein which is encoded by sequence from both BCR and ABL, the gene at the chromosome 9 breakpoint. Although the BCR-ABL fusion protein has been extensively studied, the function of the normal BCR gene product is not clear. The protein has serine/threonine kinase activity and is a GTPase-activating protein for p21rac. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Details
Gene Symbol: BCR
Gene Name: BCR, RhoGEF And GTPase Activating Protein
Chromosome: CHR22: 23522551-23660224
Locus: 22q11.23