Overview

Location [1]
22q11.23
Pathway
Kinase fusions
Protein [2]
Breakpoint cluster region protein
Synonyms [1]
D22S11, D22S662, CML, ALL, PHL, BCR1

Breakpoint cluster region (BCR) is a gene that functions as a fusion partner with ABL1 to encode a fusion protein that is a result of the reciprocal translocation between chromosomes 22 and 9. The translocation produces the Philadelphia chromosome - a hallmark feature of chronic myelogenous leukemia (CML). Fusions, rearrangements, missense mutations, nonsense mutations, silent mutations, and frameshift deletions and insertions are observed in cancers such as hematopoietic and lymphoid cancers, intestinal cancer, and skin cancer.

BCR is altered in 0.37% of all cancers.

The most common alterations in BCR are BCR Mutation (0.02%), BCR E497K (0.00%), BCR G104V (0.00%), BCR K257N (0.00%), and BCR K628R (0.00%) [3].

BCR GENIE Cases - Top Alterations

Biomarker-Directed Therapies

Significance of BCR in Diseases

Chronic Myeloid Leukemia +

Acute Lymphoblastic Leukemia +

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Hodgkin Lymphoma +

Multiple Myeloma +

Non-Hodgkin Lymphoma +

Acute Biphenotypic Leukemia +

Chronic Lymphocytic Leukemia +

B-Cell Acute Lymphoblastic Leukemia +

Chronic Myelomonocytic Leukemia +

Mantle Cell Lymphoma +

Acute Leukemia +

Burkitt Lymphoma +

Anaplastic Large Cell Lymphoma +

Myeloproliferative Neoplasm +

Follicular Lymphoma +

Juvenile Myelomonocytic Leukemia +

Marginal Zone Lymphoma +

Lymphoma +

Myelofibrosis +

Secondary Acute Myeloid Leukemia +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Diffuse Large B-Cell Lymphoma +

Lymphoblastic Lymphoma +

Prolymphocytic Leukemia +

Refractory Anemia With Excess Blasts +

Lymphoplasmacytic Lymphoma +

Small Lymphocytic Lymphoma +

T-Cell Acute Lymphoblastic Leukemia +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +

Acute Undifferentiated Leukemia +

B-Cell Non-Hodgkin Lymphoma +

Double-Hit Lymphoma +

Mixed Phenotype Acute Leukemia +

Myelodysplastic/Myeloproliferative Neoplasm +

Refractory Anemia +

T-Cell Lymphoblastic Leukemia/Lymphoma +

Therapy-Related Myelodysplastic Syndrome +

Myelodysplastic Syndrome With Excess Blasts-2 +

Plasma Cell Leukemia +

Therapy-Related Acute Myeloid Leukemia +

Malignant Solid Tumor +

Acute Erythroid Leukemia +

Acute Megakaryoblastic Leukemia +

Adult T-Cell Leukemia/Lymphoma +

B-Cell Prolymphocytic Leukemia +

Burkitt Leukemia +

Mature T-Cell And NK-Cell Lymphoma/Leukemia +

Mature T-Cell And NK-Cell Neoplasm +

Natural Killer Cell Lymphoblastic Leukemia/Lymphoma +

Peripheral T-Cell Lymphoma +

T-Cell Non-Hodgkin Lymphoma +

T-Cell Prolymphocytic Leukemia +

Solid Neoplasm +

Acute Bilineal Leukemia +

Acute Leukemia Of Ambiguous Lineage +

Acute Myeloid Leukemia With Myelodysplasia-Related Changes +

Acute Promyelocytic Leukemia +

Adult Acute Lymphoblastic Leukemia +

Aplastic Anemia +

B-Cell Lymphoblastic Leukemia/Lymphoma +

Desmoplastic Small Round Cell Tumor +

Ewing Sarcoma +

Histiocytic And Dendritic Cell Neoplasm +

Indolent Non-Hodgkin Lymphoma +

Leukemia +

Mature B-Cell Lymphoma/Leukemia +

Mature T-Cell And NK-Cell Non-Hodgkin Lymphoma +

Mediastinal Large B-Cell Lymphoma +

Melanoma +

Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable +

Myeloid Sarcoma +

Neuroblastoma +

Plasma Cell Neoplasm +

Polycythemia Vera +

Primary Myelofibrosis +

Refractory Anemia With Excess Blasts-1 +

Rhabdomyosarcoma +

Secondary Myelodysplastic Syndrome +

Small Lymphocytic Leukemia +

T-Cell And NK-Cell Neoplasm +

Therapy-Related Chronic Myelomonocytic Leukemia +

Therapy-Related Myeloid Neoplasm +

Waldenstrom Macroglobulinemia +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 6. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.