Overview

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

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 1.38% of all cancers with lung adenocarcinoma, colon adenocarcinoma, pancreatic adenocarcinoma, glioblastoma, and melanoma having the greatest prevalence of alterations [3].

BCR GENIE Cases - Top Diseases

The most common alterations in BCR are BCR Mutation (8.02%), BCR T1127S (22.60%), BCR M1119T (21.96%), BCR V1094fs (7.32%), and BCR-ABL1 Fusion (0.21%) [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 +

B-Cell Acute Lymphoblastic Leukemia +

Chronic Myelomonocytic Leukemia +

Acute Biphenotypic Leukemia +

Chronic Lymphocytic Leukemia +

Mantle Cell Lymphoma +

Acute Leukemia +

Burkitt Lymphoma +

Myeloproliferative Neoplasm +

Anaplastic Large Cell Lymphoma +

Follicular Lymphoma +

Marginal Zone Lymphoma +

Juvenile Myelomonocytic Leukemia +

Lymphoma +

Lymphoblastic Lymphoma +

Myelofibrosis +

Diffuse Large B-Cell Lymphoma +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Prolymphocytic Leukemia +

Refractory Anemia With Excess Blasts +

Secondary Acute Myeloid Leukemia +

T-Cell Acute Lymphoblastic Leukemia +

Mixed Phenotype Acute Leukemia +

Myelodysplastic/Myeloproliferative Neoplasm +

Lymphoplasmacytic Lymphoma +

Small Lymphocytic Lymphoma +

B-Cell Non-Hodgkin Lymphoma +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +

Acute Undifferentiated Leukemia +

Double-Hit Lymphoma +

Refractory Anemia +

Therapy-Related Myelodysplastic Syndrome +

Malignant Solid Tumor +

Myelodysplastic Syndrome With Excess Blasts-2 +

Plasma Cell Leukemia +

T-Cell Lymphoblastic Leukemia/Lymphoma +

Therapy-Related Acute Myeloid Leukemia +

Mature T-Cell And NK-Cell Neoplasm +

T-Cell Non-Hodgkin Lymphoma +

Acute Erythroid Leukemia +

Acute Megakaryoblastic Leukemia +

Acute Promyelocytic Leukemia +

Adult T-Cell Leukemia/Lymphoma +

B-Cell Prolymphocytic Leukemia +

Burkitt Leukemia +

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

Natural Killer Cell Lymphoblastic Leukemia/Lymphoma +

Peripheral T-Cell Lymphoma +

T-Cell Prolymphocytic Leukemia +

Neuroblastoma +

Melanoma +

Ewing Sarcoma +

Solid Neoplasm +

Mediastinal Large B-Cell Lymphoma +

Acute Leukemia Of Ambiguous Lineage +

Leukemia +

Indolent Non-Hodgkin Lymphoma +

Histiocytic And Dendritic Cell Neoplasm +

T-Cell And NK-Cell Neoplasm +

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

Acute Bilineal Leukemia +

Acute Myeloid Leukemia With Myelodysplasia-Related Changes +

Adult Acute Lymphoblastic Leukemia +

Aplastic Anemia +

B-Cell Lymphoblastic Lymphoma +

Desmoplastic Small Round Cell Tumor +

Mature B-Cell Lymphoma/Leukemia +

Mixed Phenotype Acute Leukemia, B/Myeloid, NOS +

Mixed Phenotype Acute Leukemia, T/Myeloid, NOS +

Myelodysplastic Syndrome With Excess Blasts-1 +

Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable +

Myeloid Sarcoma +

Plasma Cell Neoplasm +

Polycythemia Vera +

Primary Myelofibrosis +

Rhabdomyosarcoma +

Secondary Myelodysplastic Syndrome +

Small Lymphocytic Leukemia +

T-Cell Lymphoblastic Lymphoma +

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 8. 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.