BCR gene

The BCR gene, also known as the breakpoint cluster region gene, is a genetic component often associated with various types of cancers. It is particularly linked to chronic myeloid leukemia, a type of cancer that affects the blood and bone marrow.

Studies have revealed that the BCR gene is involved in chromosome translocations, where a piece of one chromosome breaks off and attaches to another chromosome. These translocations can lead to the activation of additional genes and abnormal functioning, ultimately contributing to the development of cancer.

The BCR gene is listed in the Online Mendelian Inheritance in Man (OMIM) database, a comprehensive resource for genetic information related to human health and diseases. It is found in the region q34.1 on chromosome 22 and has been extensively studied for its role in various types of cancers and genetic conditions.

Research articles and scientific references on the BCR gene can be found in databases such as PubMed. These resources provide valuable insights into the gene’s activity, its variants, and changes associated with different cancers and diseases.

Understanding the BCR gene and its interaction with other genes and proteins is crucial for genetic testing and diagnosis of related conditions. Testing for BCR gene translocations and changes is particularly important in the diagnosis of chronic myeloid leukemia and other hematological malignancies.

In conclusion, the BCR gene plays a significant role in various cancers and genetic conditions. Its identification and characterization provide important insights into the development and progression of these diseases. Further research and exploration of the BCR gene’s functions and interactions will contribute to improved diagnostics and targeted treatments for associated conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the BCR gene are associated with several health conditions. These changes can affect the function of myeloid proteins and lead to the development of various diseases and conditions.

One of the most well-known health conditions related to genetic changes in the BCR gene is chronic myeloid leukemia (CML). This condition is caused by a specific genetic change called the BCR-ABL translocation, which results in the production of an abnormal protein with increased activity in the blood. CML is a type of cancer that affects the white blood cells and can cause symptoms such as fatigue, weight loss, and enlarged spleen.

In addition to CML, genetic changes in the BCR gene are also associated with other types of leukemia, including acute lymphoblastic leukemia (ALL), acute myeloid leukemia (AML), and chronic lymphocytic leukemia (CLL).

The Genetic Testing Registry and OMIM database are valuable resources for obtaining information on genetic changes in the BCR gene. These databases provide a catalog of genetic variants and associated health conditions. PubMed and other scientific articles can also be used as references to gather further information on the topic.

Genetic testing can help identify genetic changes in the BCR gene and provide valuable information for diagnosing and managing related health conditions. These tests can be conducted using various methods, including DNA sequencing and fluorescence in situ hybridization (FISH).

It is important to note that genetic changes in the BCR gene are not the sole causes of these health conditions. Other genetic and environmental factors also play a role in their development.

References
Database Source
Genetic Testing Registry https://www.ncbi.nlm.nih.gov/gtr/
OMIM https://www.omim.org/
PubMed https://pubmed.ncbi.nlm.nih.gov/

Chronic myeloid leukemia

Chronic myeloid leukemia is a type of cancer that affects the blood and bone marrow. It is characterized by the presence of a specific genetic change known as the BCR-ABL1 fusion gene, which is a result of a translocation between chromosomes 9 and 22.

The BCR-ABL1 fusion gene is formed by the fusion of the breakpoint cluster region (BCR) gene on chromosome 22 and the Abelson (ABL1) gene on chromosome 9. This genetic change leads to the production of a modified protein with increased activity of a GTPase enzyme that is involved in cell growth and division.

Chronic myeloid leukemia is typically diagnosed through various tests, including blood tests, bone marrow biopsy, and genetic testing to detect the presence of the BCR-ABL1 fusion gene. It is important to note that the presence of the BCR-ABL1 fusion gene is not exclusive to chronic myeloid leukemia and can be found in other diseases and conditions as well.

There are several databases, registries, and resources available that provide additional information on chronic myeloid leukemia and related genetic changes. These resources include the Online Mendelian Inheritance in Man (OMIM) database, PubMed for scientific articles, and various genetic testing catalogs.

In addition to chronic myeloid leukemia, the BCR-ABL1 fusion gene is also associated with other types of leukemia, such as acute lymphoblastic leukemia. It is important for healthcare providers to consider these genetic changes when diagnosing and treating patients with leukemia.

References:

For more information on chronic myeloid leukemia and the BCR-ABL1 fusion gene, please refer to these resources.

Other cancers

An additional scientific name for BCR gene is BCR, DPH3 fusion gene. The BCR gene is also known as a breakpoint cluster region gene.

There are several databases and resources available for testing BCR gene activity and related diseases:

  • Human Gene Mutation Database (HGMD): This database provides information on genetic changes in the BCR gene and their association with different cancers.
  • Blood Cancer Registry (BCR): The BCR maintains a registry of genetic changes in the BCR gene that are associated with blood cancers.
  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of genetic conditions and their associated genes. It provides information on BCR gene changes and their link to various cancers.
  • PubMed: PubMed is a database of scientific articles. It contains numerous articles on BCR gene changes and their role in different cancers.

Chronic myeloid leukemia (CML) is one of the other cancers closely associated with BCR gene changes. In CML, a translocation occurs between the BCR gene and the Abelson murine leukemia (ABL) gene, resulting in the formation of a BCR-ABL fusion gene. This fusion gene leads to the production of a constitutively active protein with abnormal signaling activity, promoting the development of CML.

Testing for BCR gene changes is often done through genetic testing. This involves analyzing the DNA of an individual to identify any alterations or mutations in the BCR gene. Genetic testing can help diagnose certain cancers, predict the likelihood of developing a particular cancer, and guide treatment decisions.

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For more information on BCR gene changes and their association with chronic myeloid leukemia and other cancers, refer to the references listed in PubMed and other scientific articles.

Other Names for This Gene

This gene is also known by the following names:

  • BCR-ABL1
  • Abl oncogene 1, non-receptor tyrosine kinase fusion protein
  • BCR/ABL
  • Breakpoint cluster region-Abelson tyrosine kinase 1 fusion gene
  • D-Abl
  • P210
  • All/BCR

In addition to the above names, there may be other names for this gene in scientific articles, databases, and resources. Some of the related terms include:

  • All/BCR/ABL1
  • All/BCR/ABLp190
  • All/BCR/ABLp210
  • All/BCR/ABLp230
  • Bcr/Abl
  • BCR/ABLp92
  • Bcr/Abl-IRES-EGFP fusion protein
  • BCR/ARG
  • BCR/C-ABL myristoylated fusion protein
  • BCR-ABL fusion gene
  • BCR/ABL fusion protein
  • BCR/ABL spliced variant
  • BCRa2/Abl1 fusion gene
Gene Testing Resources
BCR gene Chronic Myeloid Leukemia (CML) Genetic Testing OMIM, PubMed, Genetic Testing Registry (GTR), Health-Related Resources
BCR gene Chronic Myeloid Leukemia (CML) OMIM, PubMed, Genetic Testing Registry (GTR)
BCR gene Acute Lymphoblastic Leukemia (ALL) OMIM, PubMed, Genetic Testing Registry (GTR)
BCR gene Myeloid Leukemia OMIM, PubMed, Genetic Testing Registry (GTR)
BCR gene Other Cancers OMIM, PubMed, Genetic Testing Registry (GTR)

For additional information about the BCR gene, its activity, genetic changes, and related diseases, you can refer to the following resources:

  1. Online Mendelian Inheritance in Man (OMIM)
  2. PubMed
  3. Genetic Testing Registry (GTR)

These resources provide scientific articles, references, and databases related to the BCR gene and its role in various conditions, including chronic myeloid leukemia (CML), acute lymphoblastic leukemia (ALL), myeloid leukemia, and other cancers.

Additional Information Resources

Below are some additional resources where you can find further information about the BCR gene and related topics:

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the BCR gene, including its genetic variants and associated diseases. You can access the BCR gene page on OMIM at https://omim.org/entry/151410.
  • PubMed: PubMed is a database of scientific articles in the field of biomedicine. It contains a vast collection of research papers related to the BCR gene and its involvement in various diseases, including cancers. You can search for relevant articles using keywords like “BCR gene” or specific diseases of interest.
  • GeneCards: GeneCards is a comprehensive database that provides information on genes, their functions, and associated diseases. You can find detailed information about the BCR gene, including its protein products and relationships with other genes, on the BCR gene page on GeneCards at https://www.genecards.org/cgi-bin/carddisp.pl?gene=BCR.
  • Genetic Testing Registry: The Genetic Testing Registry (GTR) is a centralized resource that provides information on genetic tests and their availability. It includes information about genetic tests for the BCR gene and related conditions. You can find more information at https://www.ncbi.nlm.nih.gov/gtr/?term=BCR.

These resources can help you learn more about the BCR gene, its role in different diseases, and the available genetic testing options. It is important to consult with healthcare professionals or genetic counselors for personalized advice and guidance regarding genetic testing and its implications for your health.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a database of genetic tests and their associated information. It provides a useful resource for healthcare professionals and researchers interested in genetic testing. In the context of the BCR gene, several tests have been listed in the GTR.

  • BCR gene variant analysis: This test analyzes the BCR gene for any variations or mutations that may be associated with certain cancers, such as chronic myeloid leukemia (CML).
  • BCR-ABL1 translocation testing: This test detects the presence of the BCR-ABL1 translocation, which is a genetic abnormality commonly found in chronic myeloid leukemia (CML) and some acute lymphoblastic leukemia (ALL) cases.
  • BCR-ABL1 fusion transcript testing: This test identifies the presence of the BCR-ABL1 fusion transcript, which is a result of the BCR-ABL1 translocation. It is primarily used as a diagnostic tool for chronic myeloid leukemia (CML).
  • BCR-ABL1 kinase domain mutation analysis: This test detects mutations in the kinase domain of the BCR-ABL1 fusion protein, which can confer resistance to certain targeted therapies used in chronic myeloid leukemia (CML).

These tests provide valuable information about the BCR gene and its involvement in various cancers and blood disorders. They can aid in diagnosing and monitoring conditions such as chronic myeloid leukemia and acute lymphoblastic leukemia. Additional information on these tests can be found in scientific articles, databases, and other resources.

References and related information:

Scientific Articles on PubMed

This section provides a list of scientific articles related to the BCR gene and its role in various diseases. These articles can be found on PubMed, a database of biomedical literature.

  • OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. It provides information on genetic changes, disease names, and related conditions. You can find additional information on the BCR gene and its association with leukemia and other cancers in the OMIM database.
  • GTPase Activity: The BCR gene encodes a protein with GTPase activity, which plays a crucial role in cellular processes. Several articles on PubMed discuss the GTPase activity of BCR and its implications in cancer development.
  • Translocation Cluster: The BCR gene is involved in a translocation event known as the Philadelphia chromosome translocation. This translocation is commonly found in chronic myeloid leukemia and leads to the fusion of the BCR and ABL1 genes. PubMed contains scientific articles discussing this translocation cluster and its role in cancer.
  • Testing and Diagnosis: To diagnose certain diseases, genetic testing of the BCR gene may be required. PubMed articles provide information on the testing methods and their accuracy in detecting genetic changes in the BCR gene.
  • Additional Resources: In addition to PubMed, there are other databases and resources available for exploring the BCR gene. These resources provide health-related information, scientific references, and genetic data on the BCR gene and its associated diseases.

Overall, PubMed contains numerous articles on the BCR gene and its involvement in various diseases, particularly leukemia and other cancers. These articles provide valuable scientific insights and contribute to our understanding of the genetic changes in the BCR gene and their impact on the development of these conditions.

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Catalog of Genes and Diseases from OMIM

The Registry of Genes and Diseases from the Online Mendelian Inheritance in Man (OMIM) is a comprehensive collection of genetic information related to various diseases and conditions.

OMIM provides a centralized platform for researchers, healthcare professionals, and the general public to access information about genes and diseases. The catalog includes information on genes associated with cancers, chronic and acute conditions, and other genetic changes.

OMIM catalogs genetic changes, including variants, translocations, and cluster changes, that are linked to various diseases. For example, the BCR gene is listed in the OMIM catalog as a genetic change related to chronic myeloid leukemia.

In addition to providing information on genetic changes, the OMIM catalog also includes details about the proteins associated with these changes. It provides insights into the activity and functions of the proteins, which are important for understanding the underlying mechanisms of diseases.

The catalog also offers links to additional resources, such as scientific articles from PubMed, that provide further information on genes and diseases. These references are valuable for researchers and healthcare professionals looking for in-depth information on specific conditions.

Healthcare professionals can use the OMIM catalog for genetic testing purposes. By identifying the genetic changes associated with specific diseases, healthcare providers can offer targeted tests to their patients to assess their risk or confirm a diagnosis.

The OMIM catalog is organized in a user-friendly manner, allowing users to search for specific genes, diseases, or conditions. The information is presented in tables and lists, making it easy to navigate and locate relevant details.

Overall, the Catalog of Genes and Diseases from OMIM serves as a valuable resource for researchers, healthcare professionals, and individuals interested in genetic information. It offers a comprehensive and up-to-date collection of genetic data, helping advance the understanding and management of various diseases.

Gene and Variant Databases

When studying the BCR gene, it is important to refer to gene and variant databases that provide comprehensive information on this gene and its associated variants. These databases serve as valuable resources for researchers and clinicians working in the field of cancer and other chronic diseases including leukemia.

One such database is PubMed, which is a widely used scientific repository that contains a vast collection of articles on various genes and their functions. By searching for “BCR” in PubMed, researchers can access articles that discuss the role of this gene in different types of cancers, blood disorders, and other chronic conditions.

The BCR gene is known to be involved in the formation of a fusion gene called BCR-ABL1, which is a result of a translocation between the BCR and ABL1 genes. This translocation is commonly found in patients with chronic myeloid leukemia (CML) and some acute lymphoblastic leukemias (ALL). Various databases list the genomic changes associated with this fusion gene and provide information on the clinical implications of these changes.

One such resource is the BCR-ABL1 Fusion Gene Data Catalog, which provides a comprehensive list of BCR-ABL1 fusion variants and their associated clinical features. This catalog is particularly useful for researchers and clinicians who are interested in studying the genetic changes associated with BCR-ABL1 and their implications for disease prognosis and treatment response.

In addition to specific gene databases, there are also general variant databases that provide information on genetic changes observed in various genes. These databases, such as OMIM (Online Mendelian Inheritance in Man), compile information on genetic variants that are related to various diseases and conditions. Searching for BCR gene variants in these databases can provide valuable insights into the likely impact of these variants on protein activity and their association with different diseases.

When performing genetic testing for BCR gene and its variants, it is important to refer to these databases to ensure accurate interpretation of the test results. The information provided in these databases can help researchers and clinicians determine the clinical significance of a particular variant and guide further investigations.

In summary, gene and variant databases play a crucial role in understanding the BCR gene and its associated variants. They serve as valuable resources that provide comprehensive information on the genetic changes observed in this gene, along with their clinical implications. Researchers and clinicians should refer to these databases for additional references and information on how genetic changes in the BCR gene are linked to various diseases and conditions.

References

Here is a list of scientific articles, databases, and resources related to the BCR gene:

  • Protein Data Bank (PDB): The PDB is a database that provides information on the 3D structures of proteins. It contains structural information on BCR and related proteins.

  • PubMed: PubMed is a database of scientific articles. Searching for “BCR gene” or “BCR protein” in PubMed will provide a list of articles related to the gene and its protein products.

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a catalog of human genes and genetic disorders. It provides information on the BCR gene and its associated conditions.

  • Genome-wide Association Studies (GWAS): GWAS can identify genetic variations in the BCR gene that are associated with specific diseases or conditions. These studies may provide additional information on the gene’s function and activity.

  • Cancer Genome Atlas (TCGA): TCGA is a database that contains genomic and clinical data for various cancers. It may have information on the involvement of the BCR gene in different types of cancer, such as chronic myeloid leukemia.

  • Gene Expression Omnibus (GEO): GEO is a database that provides access to gene expression data. It may have data on the activity of the BCR gene in different tissues and diseases.

  • Human Gene Mutation Database (HGMD): HGMD is a database that collects information on genetic variants associated with human diseases. It may list known variants in the BCR gene and their association with diseases.

  • GenBank: GenBank is a genetic sequence database. It may contain DNA and RNA sequences of the BCR gene and its variants.

These resources can be valuable for researchers and clinicians studying the BCR gene, conducting genetic testing for cancers and other diseases, and investigating the genetic changes and activity of this gene.

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