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BCR gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

BCR gene

The BCR gene produces a protein that acts as a molecular switch regulator and kinase, playing a significant role in cell signaling and movement.

Normal Function

The BCR protein functions as a GTPase activating protein (GAP). It helps regulate GTPases, which are "molecular switches" that control chemical signaling within cells. By stimulating the conversion of GTP to GDP, the BCR protein inactivates a specific GTPase called Rac1, thereby helping to regulate cell migration and function.

Additionally, the BCR protein acts as a kinase, an enzyme that adds phosphate groups to other proteins to alter their activity. While its exact role is not fully understood, this kinase activity is believed to be involved in regulating intracellular signaling.

Health Conditions Related to Genetic Changes

Chronic myeloid leukemia

Chronic myeloid leukemia is a slow-growing cancer of blood-forming cells caused by a genetic rearrangement known as a translocation, written as t(9;22). This fuses part of the ABL1 gene with the BCR gene, creating the BCR-ABL1 fusion gene.

  • Philadelphia Chromosome: The abnormal chromosome 22 containing this fusion gene is known as the Philadelphia chromosome. This is a somatic mutation, meaning it is acquired during a person's lifetime and is not inherited.
  • Mechanism: The resulting BCR-ABL1 protein is constantly "turned on," signaling cells to grow and divide uncontrollably while blocking the self-destruction of abnormal cells. This leads to an overproduction of abnormal white blood cells.

Other cancers

The BCR-ABL1 fusion gene is also implicated in fast-growing blood cell cancers, including acute leukemias. It is found in approximately 5 percent of children and up to 30 percent of adults with B-cell acute lymphoblastic leukemia, and rarely in acute myeloid leukemia.

Other Names for This Gene

  • ALL
  • BCR/FGFR1 chimera protein
  • BCR1
  • breakpoint cluster region
  • breakpoint cluster region protein isoform 1
  • breakpoint cluster region protein isoform 2
  • CML
  • D22S11
  • D22S662
  • FGFR1/BCR chimera protein
  • PHL
  • renal carcinoma antigen NY-REN-26

Frequently Asked Questions

No. The BCR-ABL1 fusion gene is a somatic mutation, meaning it is an acquired genetic alteration that develops in a single blood-forming stem cell during a person's lifetime. It is not present in germ cells (sperm or egg), so it cannot be inherited from parents nor passed on to biological children.
Initial diagnosis typically involves bone marrow or peripheral blood testing using fluorescence in situ hybridization (FISH) and conventional cytogenetics to identify the Philadelphia chromosome. Ongoing disease monitoring is conducted using quantitative reverse transcription polymerase chain reaction (RT-PCR) on peripheral blood. This test measures BCR-ABL1 transcript levels against a standardized International Scale to confirm whether a patient has achieved major molecular response or deep molecular response.
Treatment relies on tyrosine kinase inhibitors (TKIs), such as imatinib, dasatinib, nilotinib, and bosutinib. The BCR-ABL1 fusion gene produces an abnormal protein kinase that remains locked in the active position, driving uncontrolled cell division. TKIs specifically bind to the ATP-binding pocket of this fusion protein, shutting down abnormal signaling and allowing normal blood cell production to recover.
Resistance often arises when secondary point mutations develop within the kinase domain of the BCR-ABL1 fusion gene, altering its shape so that standard TKIs can no longer bind effectively. The most notable mutation is T315I, which confers resistance to most first- and second-generation TKIs. Clinicians evaluate resistance through BCR-ABL1 kinase domain mutation analysis and adjust therapy by switching to specialized inhibitors like ponatinib or asciminib, or by considering allogeneic stem cell transplantation.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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