BCR

Primary Author(s)*

Brian Davis, PhD

Synonyms

BCR, RhoGEF and GTPase activating protein; Breakpoint Cluster Region; BCR1; ALL; CML; PHL; D22S11; D22S662

Genomic Location

Cytoband: 22q11.23

Genomic Coordinates:

GRCh38.p12 23180365..23318037

Cancer Category/Type

Chronic Myeloid Leukemia (also referred as (Chronic Myelogenous Leukemia)

More than 90% of patients diagnosed with Chronic Myeloid Leukemia bear a Philadelphia chromosome t(9;22)(q34.1;q11.2), which is a reciprocal translocation between chromosome 22 (BCR locus) and chromosome 9 (ABL1 locus (1, also see OMIM). The Drug Imatinib mesylate, also known as Gleevec, was the one of the first molecularly developed drugs, and has a remarkably high success rate in treatment of patients with Chronic Myeloid Leukemia (5)

Acute Lymphoblastic Leukemia

Approximately 20% of patients (25 - 30% of adult and 2 - 10% of children) diagnosed with Acute Lymphoblastic Leukemia bear a Philadelphia chromosome t(9;22)(q34.1;q11.2), which is a reciprocal translocation between chromosome 22 (BCR locus) and chromosome 9 (ABL1 locus) (1, also see OMIM). Treatment of Acute Lymphoblastic Leukemia patients with Gleevec do not have the same success as Chronic Myeloid Leukemia patients treated with Gleevec, as the genomic instability of ALL cells contribute to point mutations arising in the BRC-ABL kinase domain, leading to resistance to Gleevec (4).

Gene Overview

The function of the normal BCR gene product is as a GTPase-activating protein for RAC1 and CDC42. Promotes the exchange of RAC or CDC42-bound GDP by GTP, thereby activating them. The protein has serine/threonine kinase activity. (1)

Mention that is haas coiled coil domain and prob. aggregates as Fusion BRC-ABL1.

Common Alteration Types

BCR-ABL1

BCR-JAK2

BCR-FGFR1

BCR-PDCFRA

Copy Number Loss	Copy Number Gain	LOH	Loss-of-Function Mutation	Gain-of-Function Mutation	Translocation/Fusion
EXAMPLE: X	EXAMPLE: X	EXAMPLE: X	EXAMPLE: X	EXAMPLE: X	EXAMPLE: X

Internal Pages

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EXAMPLE Germline Cancer Predisposition Genes

External Links

Put your text here - Include as applicable links to: 1) Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2) COSMIC, 3) CIViC, 4) St. Jude ProteinPaint, 5) Precision Medicine Knnowledgebase (Weill Cornell), 6) Cancer Index, 7) OncoKB, 8) My Cancer Genome, 9) UniProt, 10) Pfam, 11) GeneCards, 12) GeneReviews, and 13) Any gene-specific databases.

EXAMPLES

BCR by Atlas of Genetics and Cytogenetics in Oncology and Haematology - detailed gene information

BCR by COSMIC - sequence information, expression, catalogue of mutations

BCR-ABL1 by CIViC - general knowledge and evidence-based variant specific information

BCR by St. Jude ProteinPaint mutational landscape and matched expression data.

BCR by Precision Medicine Knowledgebase (Weill Cornell) - manually vetted interpretations of variants and CNVs

BCR by Cancer Index - gene, pathway, publication information matched to cancer type

BCR-ABL1 by OncoKB - mutational landscape, mutation effect, variant classification

BCR by My Cancer Genome - brief gene overview

BCR by UniProt - protein and molecular structure and function

BCR by Pfam - gene and protein structure and function information

BCR by GeneCards - general gene information and summaries

BCR by OMIM - compendium of human genes and genetic phenotypes

References

1. Diekmann D. et al. (1991). Bcr encodes a GTPase-activating protein for p21rac. Nature 35: 400-2. PMID 1903516 DOI: 10.1038/351400a0

Notes

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