Overview

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

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 0.41% of all cancers with non-small cell lung carcinoma, adenocarcinoma of unknown primary, bladder carcinoma, cervical neoplasm, and colorectal adenocarcinoma having the greatest prevalence of alterations [3].

BCR GENIE Cases - Top Diseases

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 +

Acute Leukemia +

Burkitt Lymphoma +

Chronic Lymphocytic Leukemia +

Mantle Cell Lymphoma +

Chronic Myelomonocytic Leukemia +

Follicular Lymphoma +

Marginal Zone Lymphoma +

Anaplastic Large Cell Lymphoma +

B-Cell Acute Lymphoblastic Leukemia +

Lymphoma +

Myeloproliferative Neoplasm +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Prolymphocytic Leukemia +

Juvenile Myelomonocytic Leukemia +

Lymphoplasmacytic Lymphoma +

Myelodysplastic/Myeloproliferative Neoplasm +

Myelofibrosis +

Diffuse Large B-Cell Lymphoma +

Lymphoblastic Lymphoma +

Small Lymphocytic Lymphoma +

B-Cell Non-Hodgkin Lymphoma +

Double-Hit Lymphoma +

Malignant Solid Tumor +

Plasma Cell Leukemia +

Refractory Anemia With Excess Blasts +

T-Cell Lymphoblastic Leukemia/Lymphoma +

T-Cell Non-Hodgkin Lymphoma +

Acute Leukemia Of Ambiguous Lineage +

Acute Undifferentiated Leukemia +

Adult T-Cell Leukemia/Lymphoma +

Burkitt Leukemia +

Hematopoietic And Lymphoid Malignancy +

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

Mature T-Cell And NK-Cell Neoplasm +

Mixed Phenotype Acute Leukemia +

Myeloid Sarcoma +

Natural Killer Cell Lymphoblastic Leukemia/Lymphoma +

Peripheral T-Cell Lymphoma +

Primary Myelofibrosis +

Refractory Anemia +

Refractory Anemia With Excess Blasts-2 +

T-Cell Acute Lymphoblastic Leukemia +

Acute Erythroid Leukemia +

Acute Megakaryoblastic Leukemia +

Acute Myeloid Leukemia With Myelodysplasia-Related Changes +

Acute Promyelocytic Leukemia +

Adult Acute Lymphoblastic Leukemia +

Aggressive Non-Hodgkin Lymphoma +

B-Cell Prolymphocytic Leukemia +

Blastic Plasmacytoid Dendritic Cell Neoplasm +

Desmoplastic Small Round Cell Tumor +

Ewing Sarcoma +

Mature B-Cell Lymphoma/Leukemia +

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

Mediastinal Large B-Cell Lymphoma +

Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable +

Myeloma +

Neuroblastoma +

Plasma Cell Neoplasm +

Polycythemia Vera +

Rhabdomyosarcoma +

Secondary Acute Myeloid Leukemia +

Secondary Myelodysplastic Syndrome +

Small Lymphocytic Leukemia +

T-Cell Prolymphocytic Leukemia +

T-Cell And NK-Cell Neoplasm +

Therapy-Related Acute Myeloid Leukemia +

Therapy-Related Myeloid Neoplasm +

Waldenstrom Macroglobulinemia +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20170629. 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 4. 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.