BCR ABL Transcript Analysis

BCR-ABL is a mutation that is formed by the combination of two genes, known as BCR and ABL. It's sometimes called a fusion gene.

The BCR-ABL mutation happens when pieces of BCR and ABL genes break off and switch places. The mutation shows up on chromosome 22, where the piece of chromosome 9 has attached itself. The mutated chromosome 22 is called the Philadelphia chromosome because that's the city where researchers first discovered it.

The BCR-ABL gene is not the type of mutation that is inherited from your parents. It is a type of somatic mutation, which means you are not born with it. You get it later in life. The BCR-ABL gene shows up in patients with certain types of leukemia, a cancer of the bone marrow and white blood cells. BCR-ABL is found in almost all patients with a type

of leukemia called chronic myeloid leukemia (CML). Another name for CML is chronic myelogenous leukemia. Both names refer to the same disease.

Chronic myelogenous leukemia (CML), a myeloproliferative neoplasm, is caused by a reciprocal translocation between chromosome 9 (ABL) and chromosome 22 (BCR), resulting in a fusion gene (BCR-ABL), also known as the Philadelphia chromosome. This fusion results in uncontrolled tyrosine kinase signaling, leads to over active downstream signaling and uncontrolled cell proliferation.

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