Overview

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

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 +

Non-Hodgkin Lymphoma +

Multiple Myeloma +

Acute Biphenotypic Leukemia +

Chronic Lymphocytic Leukemia +

Chronic Myelomonocytic Leukemia +

Acute Leukemia +

Burkitt Lymphoma +

Mantle Cell Lymphoma +

B-Cell Acute Lymphoblastic Leukemia +

Follicular Lymphoma +

Marginal Zone Lymphoma +

Myeloproliferative Neoplasm +

Anaplastic Large Cell Lymphoma +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Juvenile Myelomonocytic Leukemia +

Lymphoma +

Prolymphocytic Leukemia +

Diffuse Large B-Cell Lymphoma +

Lymphoblastic Lymphoma +

Lymphoplasmacytic Lymphoma +

Myelodysplastic/Myeloproliferative Neoplasm +

Myelofibrosis +

B-Cell Non-Hodgkin Lymphoma +

Refractory Anemia With Excess Blasts +

Small Lymphocytic Lymphoma +

Double-Hit Lymphoma +

Mixed Phenotype Acute Leukemia +

Plasma Cell Leukemia +

Secondary Acute Myeloid Leukemia +

T-Cell Acute Lymphoblastic Leukemia +

T-Cell Lymphoblastic Leukemia/Lymphoma +

Acute Undifferentiated Leukemia +

Mature T-Cell And NK-Cell Neoplasm +

Primary Myelofibrosis +

Refractory Anemia +

T-Cell Non-Hodgkin Lymphoma +

Malignant Solid Tumor +

Acute Erythroid Leukemia +

Acute Leukemia Of Ambiguous Lineage +

Acute Megakaryoblastic Leukemia +

Adult T-Cell Leukemia/Lymphoma +

B-Cell Prolymphocytic Leukemia +

Burkitt Leukemia +

Hematopoietic And Lymphoid Malignancy +

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

Myeloid Sarcoma +

Natural Killer Cell Lymphoblastic Leukemia/Lymphoma +

Peripheral T-Cell Lymphoma +

Refractory Anemia With Excess Blasts-2 +

T-Cell Prolymphocytic Leukemia +

Therapy-Related Acute Myeloid Leukemia +

Therapy-Related Myelodysplastic Syndrome +

Solid Neoplasm +

Acute Bilineal Leukemia +

Acute Myeloid Leukemia With Myelodysplasia-Related Changes +

Acute Promyelocytic Leukemia +

Adult Acute Lymphoblastic Leukemia +

Aggressive Non-Hodgkin Lymphoma +

Aplastic Anemia +

B-Cell Lymphoblastic Leukemia/Lymphoma +

Blastic Plasmacytoid Dendritic Cell Neoplasm +

Desmoplastic Small Round Cell Tumor +

Ewing Sarcoma +

Histiocytic And Dendritic Cell Neoplasm +

Mature B-Cell Lymphoma/Leukemia +

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

Mediastinal Large B-Cell Lymphoma +

Melanoma +

Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable +

Myeloma +

Neuroblastoma +

Plasma Cell Neoplasm +

Polycythemia Vera +

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.