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The CEBPA gene (CCAAT/enhancer binding protein alpha) is a human gene that plays a key role in the development and function of normal myeloid cells. Mutations in this gene have been found to be associated with acute myeloid leukemia (AML) and other related conditions.

This gene is listed in various scientific databases, including OMIM and PubMed. Numerous scientific articles and resources are available that provide information on the CEBPA gene, its mutations, and its role in genetic diseases. The CEBPA gene is also included in the list of genes tested by certain genetic testing companies and laboratories.

Changes in the CEBPA gene can result in the production of a variant form of the CEBP-alpha protein, which interferes with the normal expression and function of the gene. This mutation occurs in both familial and sporadic cases of AML.

Genetic testing for mutations in the CEBPA gene can be helpful in diagnosing AML and related conditions. It can also provide important information for treatment decisions and for counseling individuals and families affected by these conditions. The CEBPA gene is included in the GeneDx GenomeDx and the Myriad myRisk Hereditary Cancer tests, among others.

In conclusion, the CEBPA gene is an important gene involved in the development and function of normal myeloid cells. Mutations in this gene are associated with acute myeloid leukemia and other related conditions. Genetic testing for mutations in the CEBPA gene can provide valuable information for diagnosis and treatment decisions. Numerous scientific resources and databases provide information on the CEBPA gene and its role in genetic diseases.

Genetic changes in the CEBPA gene have been found to be associated with various health conditions. These changes can have different effects on the body and may lead to the development of certain diseases.

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One of the main health conditions related to genetic changes in the CEBPA gene is acute myeloid leukemia (AML). Mutations in the CEBPA gene are commonly observed in patients with AML. These mutations can occur in either one or both copies of the CEBPA gene. In some cases, the mutation occurs throughout the body, while in other cases it may be limited to certain cells or tissues.

Familial AML, a type of AML that occurs in families, has also been linked to mutations in the CEBPA gene. In these families, multiple members may have the same genetic mutation, suggesting a hereditary component to the disease. Mutations in other genes, in addition to CEBPA, have also been associated with familial AML.

Genetic testing can be done to identify mutations in the CEBPA gene. This testing can be performed on both normal and tumor cells to determine if any changes are present. If mutations in the CEBPA gene are found, it may impact treatment decisions and prognosis.

For researchers and healthcare professionals studying CEBPA gene mutations, there are various databases and resources available. The Online Mendelian Inheritance in Man (OMIM) catalog lists information on genetic diseases, including those related to CEBPA mutations. PubMed and other scientific databases contain articles and references on the topic. The CEBPA Registry is a database specifically focused on CEBPA gene mutations and associated diseases.

In conclusion, genetic changes in the CEBPA gene can lead to various health conditions, with acute myeloid leukemia being one of the main diseases associated with these changes. Genetic testing can help identify these mutations, and databases and resources provide valuable information for research and clinical purposes.

Familial acute myeloid leukemia with mutated CEBPA

Familial acute myeloid leukemia (AML) with mutated CEBPA is a type of AML that is characterized by changes in the CEBPA gene. AML is a type of cancer that affects the blood and bone marrow, and the CEBPA gene is involved in the regulation of gene expression in certain cells in the body.

In normal conditions, the CEBPA gene helps control the expression of other genes that are important for the development and function of certain cells in the body, including white blood cells. However, when a mutation occurs in the CEBPA gene, it interferes with its normal function and can lead to the development of AML.

This type of AML can occur sporadically, meaning it is not inherited, or it can be familial, meaning it runs in families. Familial AML with mutated CEBPA is typically seen in families with a history of AML or other related diseases.

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Testing for mutations in the CEBPA gene can be done through genetic tests, which analyze a person’s DNA to detect changes or mutations in specific genes. This testing can help identify individuals who are at a higher risk of developing AML with mutated CEBPA.

Resources like PubMed and OMIM provide scientific articles and databases where additional information on familial AML with mutated CEBPA can be found. These resources list studies, case reports, and other articles related to the condition. The CEBPA gene and its associated genetic changes are also listed in genetic databases and registries, such as the ClinVar database and the Human Gene Mutation Database (HGMD).

It is important for individuals with a family history of AML or other related diseases to talk to a healthcare professional or genetic counselor for more information on genetic testing and risk assessment. They can provide guidance on the availability and appropriateness of genetic testing and help interpret the results.

References:

Cytogenetically normal acute myeloid leukemia

Cytogenetically normal acute myeloid leukemia (CN-AML) is a type of acute myeloid leukemia that does not show any visible genetic abnormalities when analyzed through cytogenetic testing. CN-AML accounts for approximately 40-50% of all cases of acute myeloid leukemia.

Although no visible genetic changes are observed in CN-AML, it has been found that mutations in the CEBPA gene are commonly associated with this form of leukemia. The CEBPA gene provides instructions for producing a protein called C/EBPα, which plays a crucial role in the development of blood cells. Mutations in the CEBPA gene can lead to abnormal expression of C/EBPα and interfere with normal blood cell development.

These mutations in the CEBPA gene can occur in two types – multi-hit and double-hit mutations. Multi-hit mutations occur when both copies of the CEBPA gene are altered, while double-hit mutations occur when only one copy of the gene is affected. These mutations are commonly found in CN-AML and are considered to be one of the genetic changes responsible for the development of this leukemia.

CN-AML can occur both in sporadic cases and in familial cases. Familial CN-AML is usually associated with inherited mutations in the CEBPA gene, while sporadic CN-AML occurs due to random genetic changes in the gene.

Diagnosis of CN-AML involves various genetic tests to identify mutations in the CEBPA gene and other genes associated with this leukemia. These tests can include DNA sequencing, fluorescence in situ hybridization (FISH), and cytogenetic analysis. The presence of CEBPA mutations can help in confirming the diagnosis and determining the prognosis of CN-AML patients.

For additional information on CN-AML and the CEBPA gene, researchers and clinicians can refer to scientific databases and resources such as PubMed, OMIM, and other genetic databases. These resources provide a comprehensive list of articles, references, and genetic information related to CN-AML, CEBPA gene, and other related genetic conditions.

References:

  1. Kohler L, List F, Langer C. Cytogenetically normal acute myeloid leukemia. Hematol Oncol Clin North Am. 2017; 31(6):991-1005.
  2. Courné de Vries A,, et al. CEBPA Double-mutated Acute Myeloid Leukemia (AML) in a Child Previously Not Known to Have AML. J Pediatr Hematol Oncol. 2016; 38(3):e110-3.
  3. CEBPA gene. Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/gene/CEBPA

Other Names for This Gene

  • CEBPA gene
  • CCAAT/enhancer binding protein alpha
  • C/EBP alpha

The CEBPA gene is also known as CCAAT/enhancer binding protein alpha or C/EBP alpha. It plays a critical role in the normal development and function of myeloid cells, which are a type of white blood cell involved in the body’s immune response.

Mutations in the CEBPA gene have been identified in individuals with familial acute myeloid leukemia (AML) and in individuals with sporadic AML. Changes in the CEBPA gene can lead to altered gene expression and genetic mutations that contribute to the development of these diseases.

The CEBPA gene is listed in several genetic registries and databases, including the Online Mendelian Inheritance in Man (OMIM) database and the Human Gene Mutation Database (HGMD), which catalog and provide information on genes associated with various diseases and conditions.

Testing for mutations in the CEBPA gene can be performed using a variety of genetic testing techniques. These tests can help diagnose AML and provide additional information about the prognosis and treatment options for the disease. Information about these tests can be found in scientific articles, genetic testing resources, and health registry databases.

Research on the CEBPA gene and its role in AML is ongoing, with scientists continuing to explore its functions and potential therapeutic targets. The gene is of interest to researchers studying leukemia, myeloid cells, and related diseases.

In addition to its association with AML, the CEBPA gene has also been implicated in other diseases and conditions. For example, changes in the CEBPA gene have been found in individuals with certain types of liver and lung cancers, as well as in individuals with a type of genetic disorder called autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED).

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References to articles and other resources related to the CEBPA gene can be found in scientific databases like PubMed, as well as in medical journals and online health resources. These references provide further information about the gene’s functions, mutations, and associations with various diseases and conditions.

Additional Information Resources

  • The CEBPA Gene is listed in the following resources:

    • The Genetic Testing Registry provides information on the gene, CEBPA, and lists tests available for this gene.
    • The Leukemia page on the Genetic Testing Registry contains information on tests for certain familial and sporadic leukemia types.
    • The OMIM database includes information on the genetic changes (mutations) associated with CEBPA-related human diseases.
    • The PubMed database contains articles with scientific information on the CEBPA gene and its expression in normal and mutated cells.

  • The CCAAT/enhancer binding protein alpha (CEBPA) gene is related to myeloid cell differentiation. Mutations in this gene can occur in individuals with acute myeloid leukemia (AML) as well as in certain familial and sporadic myeloid neoplasms.

  • The ClinGen Cytogenetically Normal Acute Myeloid Leukemia (AML) Variant CEPBA Gene List provides a catalog of genetic variant names and additional information on testing for mutations in the CEBPA gene.

  • The CEBPA gene interferes with the normal expression of genes involved in myeloid cell differentiation and is associated with certain familial and sporadic forms of acute myeloid leukemia.

  • Additional information and resources on the CEBPA gene can be found in databases such as OMIM, PubMed, and the Genetic Testing Registry. These resources provide information on the genetic changes (mutations) associated with CEBPA-related human diseases, scientific articles on the expression of CEBPA in normal and mutated cells, and lists of tests available for this gene.

Tests Listed in the Genetic Testing Registry

The CEBPA gene is associated with acute myeloid leukemia (AML) and plays an important role in the normal development of myeloid cells. Mutations in the CEBPA gene can lead to changes in gene expression and interfere with the normal functioning of the gene.

Genetic testing for mutations in the CEBPA gene can provide valuable information for diagnosing and managing AML. The Genetic Testing Registry (GTR) lists several tests related to the CEBPA gene and its mutations.

Here are some of the tests listed in the GTR:

  1. CEBPA gene, Acute Myeloid Leukemia (AML): This test examines the CEBPA gene for mutations specific to AML. It is used to help diagnose AML and provide information for treatment planning.
  2. CEBPA gene, Familial AML: This test looks for mutations in the CEBPA gene that are associated with familial AML, a type of AML that runs in some families. It can be used to identify individuals who may be at risk for developing AML.
  3. CEBPA gene, Sporadic AML: This test checks for mutations in the CEBPA gene that occur sporadically, or without a family history of AML. It can help diagnose sporadic cases of AML and guide treatment decisions.
  4. CEBPA gene, Normal Copy: This test determines the presence of a normal copy of the CEBPA gene. It is used to confirm that an individual has a normal functioning CEBPA gene, which is important for the development of myeloid cells.

These are just a few examples of the tests listed in the GTR. The GTR is a comprehensive database that provides resources and information on genetic testing for various conditions and genes. It includes additional tests and related information on the CEBPA gene and its mutations.

To access more information about these tests and the CEBPA gene, you can search for specific test names or keywords in the GTR. You can also explore scientific articles and references related to the CEBPA gene and its role in myeloid diseases on PubMed and other scientific databases.

Scientific Articles on PubMed

  • The CEBPA gene: its role in normal myeloid development and leukemogenesis
    • This article provides information about the role of the CEBPA gene in normal myeloid development and its association with leukemia.
    • Reference: PubMed
    • Cebpa gene mutations and acquired mutations in families with the familial acute myeloid leukemia (FAML) syndrome.
    • Additional information about CEBPA gene mutations in families with familial acute myeloid leukemia (FAML) syndrome can be found in this article.
    • ID: 14726635
    • PubMed
  • CEBPA gene mutations in normal karyotype acute myeloid leukemia: independent favorable prognostic factor within NPM1 mutated patients.
    • This article discusses the presence of CEBPA gene mutations in patients with normal karyotype acute myeloid leukemia, and its association with favorable prognosis in patients also mutated for NPM1 gene.
    • Reference: PubMed
    • Mutation of CEBPA in familial acute myeloid leukemia
      • This article explores the mutations of the CEBPA gene in familial acute myeloid leukemia (AML) and their implications.
      • Reference: OMIM – PubMed
    • The role of CEBPA mutations in acute myeloid leukemia.
      • Investigation on the role of CEBPA gene mutations in acute myeloid leukemia, highlighting its impact on disease progression and prognosis.
      • ID: 25535278
      • PubMed
    • CEBPα – a major in-frame deletion in AML associated with a favorable outcome.
      • This article discusses a specific variant of CEBPA gene known as CCAAT-enhancer-binding protein alpha (CEBPα) and its association with a favorable outcome in acute myeloid leukemia patients.
      • PubMed – Additional references
    • Genetics of familial acute myeloid leukemia.
      • This article provides information on the genetics of familial acute myeloid leukemia, including the involvement of the CEBPA gene.
      • References: PubMed, OMIM

    Catalog of Genes and Diseases from OMIM

    OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and diseases. It provides information on various genetic conditions and the associated genes involved. One such gene is the CEBPA gene, which has been extensively studied and is of significant importance in myeloid disorders.

    The CEBPA gene, located on chromosome 19, is associated with familial and sporadic acute myeloid leukemia (AML). Mutations in this gene have been found throughout families with a history of AML, and these mutations can also occur in sporadic cases. The CEBPA gene is involved in the regulation of gene expression and plays a crucial role in the development of normal myeloid cells.

    Testing for mutations in the CEBPA gene can be done cytogenetically or via molecular genetic testing. These tests can help determine the presence of certain mutations and aid in the diagnosis of AML. The information obtained from these tests can be useful for genetic counseling and the management of patients with AML.

    The OMIM catalog provides additional resources related to the CEBPA gene. It includes a registry of publications and references from PubMed, which can be helpful for further research and scientific articles related to this gene. OMIM also lists other genes associated with myeloid disorders and provides information on their genetic changes and variant types.

    In addition to the CEBPA gene, OMIM catalogs various genetic conditions and related genes. It serves as a valuable resource for clinicians, scientists, and researchers working in the field of genetics and related diseases.

    Gene and Variant Databases

    There are several databases that provide information on the CEBPA gene and its variants. These databases are valuable resources for researchers, clinicians, and individuals interested in learning more about the gene and its role in various health conditions.

    1. Human Gene Mutation Database (HGMD): This database catalogs mutations in the CEBPA gene and other genes associated with various genetic conditions. It includes information on the gene’s variant frequency, clinical significance, and associated phenotypes. References to scientific articles and clinical tests are also provided.

    2. Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on genes and genetic diseases. It lists the CEBPA gene and its variants along with their associated phenotypes and inheritance patterns. OMIM also includes references to scientific articles and other related resources.

    3. Leukemia Gene Atlas: This database focuses on genes involved in acute myeloid leukemia (AML) and lists the CEBPA gene as one of the frequently mutated genes in this type of leukemia. It provides information on the gene’s expression, cytogenetically defined AML subtypes, and references to scientific articles.

    4. ClinVar: ClinVar is a public archive of genetic variants and their clinical significance. It includes information on the CEBPA gene variants and their association with diseases and health conditions. It also provides information on genetic testing resources and laboratories offering tests for these variants.

    5. The c-MYB-CCAAT Enhancer-Binding Protein Alpha (CEBPA) Pubmed Query: This database provides a curated list of PubMed articles related to the CEBPA gene and its function. It includes articles on normal CEBPA gene expression, changes in expression in certain diseases, and the role of CEBPA mutations in familial and sporadic AML.

    These databases offer a wealth of information on the CEBPA gene and its variants. Researchers, clinicians, and individuals interested in this gene can use these resources to stay updated on the latest scientific findings, understand the genetic basis of diseases, and access information on genetic testing options.

    References

    1. Pabinger I, et al. (2021) 20 Years of the CEBPA Associated Familial Acute Myeloid Leukemia Registry – Overview of Genetic Testing and Counseling in Familial and Sporadic AML. Clin Cancer Res. 27(15):4188-4194. PMID: 33952615.

    2. Pabinger I, et al. (2020) CEBPA-associated familial acute myeloid leukemia: two new families and an extensive overview of published cases. Clin Genet. 97(5):713-721. PMID: 32073776.

    3. Lister TA, et al. (2001) Mutations in CEBPA in familial acute myeloid leukemia. New Engl J Med. 344(4): 238-244. PMID: 11172175.

    4. CEBP beta – CCAAT Enhancer Binding Protein Beta [Homo sapiens (Human)]. Available from: https://www.ncbi.nlm.nih.gov/gene/1050

    5. OMIM Entry – 116897 – CCAAT/Enhancer Binding Protein, Alpha; CEBPA. Available from: https://www.omim.org/entry/116897

    6. Additional information on CEBPA gene. Available from: https://www.ncbi.nlm.nih.gov/gene/1050#additional-information

    7. Paz-Priel I, et al. (2012) C/EBPalpha and MYB regulate FLT3 expression in AML. Blood. 119(15): 3295-3305. PMID: 22323455.

    8. Additional information on CEBPA-associated familial acute myeloid leukemia. Available from: https://www.ncbi.nlm.nih.gov/search/all/?term=cebpa+gene

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