Familial acute myeloid leukemia (AML) is a rare condition in which the patient inherits a genetic mutation that causes the development of leukemia, a type of cancer that affects the blood and bone marrow. Specifically, familial AML with mutated CEBPA is a subtype of AML characterized by mutations in the CEBPA gene. This gene plays a central role in the normal function of myeloid cells, which are responsible for producing blood cells in the body.

Individuals with familial AML with mutated CEBPA have a higher frequency of developing AML compared to the general population. This condition can be inherited from one or both parents, and individuals with this mutation have a lifetime risk of developing AML. The mutated CEBPA gene is a tumor suppressor gene, meaning that it normally helps to regulate the growth and division of cells. However, when mutated, it can lead to the development of leukemia.

There are several resources available to support patients and their families affected by familial AML with mutated CEBPA. The Online Mendelian Inheritance in Man (OMIM) catalog provides information about the genetic basis of diseases and includes detailed information about this condition. Additionally, scientific articles and references can be found on PubMed, a central repository for scientific literature. Genetic testing can also provide additional information about the inheritance patterns and risks associated with this condition.

Advocacy and support groups, such as the Leukemia and Lymphoma Society, can provide valuable resources and information for families affected by familial AML with mutated CEBPA. These organizations offer support services, educational materials, and research funding to help improve the lives of patients and their families. By learning more about this condition and its genetic causes, individuals can make informed decisions about their healthcare and treatment options.

Frequency

The frequency of familial acute myeloid leukemia (AML) with mutated CEBPA is relatively rare. This condition is associated with specific mutations in the CEBPA gene, which is a tumor suppressor gene that plays a central role in the development and function of myeloid cells.

In general, familial AML accounts for only a small percentage of all AML cases. The specific frequency of familial AML with mutated CEBPA is not well established. However, it is estimated to occur in a small subset of AML patients, with some studies suggesting that it may account for approximately 5-14% of familial AML cases.

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Information about the frequency of this condition can be found in scientific articles and resources such as the Online Mendelian Inheritance in Man (OMIM) database, PubMed, and other genetic testing and advocacy resources. References to these resources can provide more detailed information about the frequency of familial AML with mutated CEBPA.

Patients and families who are interested in learning more about the frequency and inheritance of familial AML with mutated CEBPA should consult these resources for additional information.

Causes

Familial acute myeloid leukemia with mutated CEBPA is a genetic condition that is caused by mutations in the CEBPA gene. This gene provides instructions for making a protein called CEBPA, which is involved in the normal development and function of myeloid cells, a type of white blood cell. Mutations in the CEBPA gene impair the function of this protein, leading to an increased risk of developing acute myeloid leukemia (AML).

In most cases of familial AML with mutated CEBPA, affected individuals inherit one mutated copy of the CEBPA gene from each parent. This is known as autosomal dominant inheritance. However, some families with this condition have been found to have only one copy of the CEBPA gene with a mutation, while the other copy is normal. In these cases, familial AML with mutated CEBPA may be caused by a new mutation in the CEBPA gene that occurs in an egg or sperm cell, or in the early stages of development.

The exact frequency of familial AML with mutated CEBPA is unknown, but it is considered to be a rare condition. It is estimated that mutations in the CEBPA gene are responsible for about 8% of all AML cases. In familial AML with mutated CEBPA, individuals have a higher risk of developing cancer at an earlier age, compared to individuals with sporadic (non-inherited) AML.

It is important for individuals with a family history of AML or AML-associated conditions to undergo genetic testing to learn more about their specific risk. Genetic testing can help identify mutations in the CEBPA gene, which can assist in confirming a diagnosis and providing appropriate cancer screening and treatment options.

For more information about familial AML with mutated CEBPA, and to learn about other genetic conditions associated with AML, the following resources may be helpful:

  • OMIM: A catalog of human genes and genetic disorders, including information on CEBPA mutations and related conditions.

  • PubMed: A database of scientific articles, including research on the CEBPA gene and familial AML.

  • The Leukemia & Lymphoma Society: A nonprofit organization that provides education, patient support, advocacy, and resources for individuals with leukemia and other blood cancers.

Further research and understanding of the causes and genetics of familial AML with mutated CEBPA can lead to more effective cancer prevention, detection, and treatment strategies.

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Learn more about the gene associated with Familial acute myeloid leukemia with mutated CEBPA

Familial acute myeloid leukemia with mutated CEBPA is a rare genetic condition that affects families. It is caused by mutations in the CEBPA gene, which is responsible for the production of the CEBPalpha protein. This protein plays a central role in the normal function of cells in the body, acting as a tumor suppressor and regulating the development and differentiation of blood cells.

Families with this condition have a higher than normal frequency of acute myeloid leukemia, a type of cancer that affects the blood and bone marrow. The CEBPA gene mutations in these families are inherited in an autosomal dominant pattern, which means that a mutation in one copy of the gene is enough to cause the condition.

For more information on the CEBPA gene and its association with familial acute myeloid leukemia, there are several resources available. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genetic basis of diseases, including familial acute myeloid leukemia. Additionally, PubMed, a scientific research database, has many articles and references on this topic.

Genetic testing can be done to identify mutations in the CEBPA gene in individuals and families with a history of familial acute myeloid leukemia. This testing can help determine the likelihood of developing the condition and guide treatment decisions. It is important for patients and their families to seek genetic counseling and support from advocacy organizations for additional resources and information.

Additional Resources:

  • Online Mendelian Inheritance in Man (OMIM): The OMIM entry for familial acute myeloid leukemia with mutated CEBPA provides comprehensive information on the condition, including inheritance patterns, clinical features, and references to scientific literature.
  • PubMed: PubMed is a database of scientific articles and references. Searching for “familial acute myeloid leukemia with mutated CEBPA” will provide a wealth of scientific literature on the topic.
  • Advocacy Organizations: There are advocacy organizations that provide support, resources, and information for individuals and families affected by familial acute myeloid leukemia. These organizations can help connect patients and their families with others who have the condition and provide additional support.

Learn more about the gene associated with familial acute myeloid leukemia with mutated CEBPA can help individuals and families better understand their condition and make informed decisions about their care and treatment.

Inheritance

Familial acute myeloid leukemia with mutated CEBPA, also called familial AML with mutated CEBPA or familial CEBPA-associated leukemia, is a rare inherited condition caused by mutations in the CEBPA gene. This condition is characterized by the development of acute myeloid leukemia (AML), a type of cancer that affects the normal function and production of certain white blood cells called myeloid cells.

The CEBPA gene provides instructions for making a protein called C/EBPalpha, which plays a central role in the development and function of myeloid cells. Mutations in the CEBPA gene can disrupt the normal activity of this protein, leading to the development of AML.

In families with familial AML with mutated CEBPA, the condition is typically inherited in an autosomal dominant pattern, which means that an affected individual inherits one mutated copy of the CEBPA gene from a parent who also has the condition. However, some cases of this condition can also occur sporadically, without a family history of the condition.

Individuals with familial AML with mutated CEBPA have a higher risk of developing AML compared to the general population. The age of onset for AML in affected individuals is generally earlier than in individuals with sporadic AML, with most cases occurring in childhood or early adulthood.

If a person is concerned about their risk of familial AML with mutated CEBPA, genetic testing can be done to look for mutations in the CEBPA gene. It is important for individuals with this condition to seek appropriate medical care and monitoring, as well as receive genetic counseling and support services.

More information about familial AML with mutated CEBPA and its inheritance can be found in scientific articles and genetic resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide valuable information about the condition, its genetic basis, associated genes, and references to further learn about the topic. Advocacy and support groups may also provide additional resources and information for affected individuals and their families.

Other Names for This Condition

Familial acute myeloid leukemia with mutated CEBPA is also known by several other names, including:

  • Familial AML with mutated CEBPA
  • Familial acute myelogenous leukemia with mutated CEBPA
  • Familial AML with mutated CEBPA, autosomal dominant
  • Familial acute myeloid leukemia with CEBPA mutation
  • Familial AML with CEBPA mutation
  • AML-associated mutation in CEBPA
  • CEBPA-related acute myeloid leukemia

These names are used to describe the same condition, providing additional information about the familial and genetic aspects of the disease. In scientific literature, you may find different names used, but they all refer to the same condition.

Understanding and using these other names can help you find more information, articles, and resources related to familial acute myeloid leukemia with mutated CEBPA. It can also help you learn about other diseases associated with mutated CEBPA and their inheritance patterns.

Testing for CEBPA mutations is often recommended for individuals with a familial history of acute myeloid leukemia or those who develop leukemia at a younger age than normal. Identifying a mutated CEBPA gene can provide important information about the causes of the disease and help guide treatment options.

For more information about familial acute myeloid leukemia with mutated CEBPA, you can visit resources such as OMIM (Online Mendelian Inheritance in Man) or PubMed. These platforms provide scientific catalogues, articles, and references that delve deeper into the condition’s genetic frequency, family inheritance patterns, and the function of the CEBPA gene in normal body cells.

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Support and advocacy groups for familial acute myeloid leukemia can also provide additional information and resources for patients and their families. Obtaining accurate and up-to-date information about this rare condition can help improve understanding and quality of life for those affected.

Additional Information Resources

For more information about familial acute myeloid leukemia with mutated CEBPA and other related diseases, the following resources can be helpful:

  • PubMed: A scientific database where you can find articles and information about various medical conditions. Searching for “familial acute myeloid leukemia with mutated CEBPA” will provide you with up-to-date research and studies on this condition.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information about the genes and genetic conditions associated with familial acute myeloid leukemia. It includes information about the CEBPA gene, its mutation, and its role as a tumor suppressor in acute myeloid leukemia.
  • Genetic Testing: Families with a history of familial acute myeloid leukemia with mutated CEBPA can consider genetic testing to identify the presence of the CEBPA gene mutation. This can help in early diagnosis and management of the condition.
  • Support and Advocacy: Various support groups and advocacy organizations exist for patients and families affected by familial acute myeloid leukemia. These groups can provide emotional support, share information, and connect you with other individuals facing similar challenges.
  • Scientific Articles and References: The scientific literature contains a wealth of information on familial acute myeloid leukemia with mutated CEBPA. By exploring scientific articles and references, you can gain a deeper understanding of the condition and its underlying mechanisms.

It is important to note that familial acute myeloid leukemia with mutated CEBPA is a rare condition. Hence, finding information and resources specific to this condition may be more challenging compared to more central and commonly known diseases. However, the above-mentioned resources should provide you with the information and support you need to learn more about this condition and support affected families.

Genetic Testing Information

Familial acute myeloid leukemia with mutated CEBPA is a rare genetic condition that affects the normal function of CEBPA genes. Mutations in these genes are associated with the development of acute myeloid leukemia. This condition is generally called familial AML with CEBPA mutations.

Genetic testing provides important information about the specific mutation in the CEBPA gene that has been identified in a patient. This information can help healthcare professionals better understand the causes and associated risks of the condition. It can also provide valuable insights into the inheritance pattern and frequency of this genetic mutation within families.

There are resources available for families and patients to learn more about the genetic testing process, the central gene involved (CEBPA), and the associated scientific research. The following are some recommended resources for obtaining more information:

  1. PubMed: This is a central repository of scientific articles and research. Searching for “familial AML with CEBPA mutations” on PubMed will yield a wealth of information on the topic.
  2. OMIM (Online Mendelian Inheritance in Man): OMIM provides comprehensive information on genetic conditions, including familial AML. It includes gene names, inheritance patterns, genetic testing information, and more.
  3. Cancer Advocacy Organizations: Many cancer advocacy organizations provide support, information, and resources for families affected by familial AML with CEBPA mutations. These organizations often have websites with helpful information.

It is important for families and patients to have access to accurate and up-to-date genetic testing information. This can help individuals make more informed decisions about their healthcare and understand the potential impact that familial AML with CEBPA mutations can have on their lives.

Further research into this condition and the specific CEBPA gene mutations is ongoing. New discoveries and advancements in genetic testing technology can provide additional insight into the causes, effects, and potential treatments for familial AML with CEBPA mutations.

References:

  • Article name 1 – Journal source, pubmed link
  • Article name 2 – Journal source, pubmed link
  • Article name 3 – Journal source, pubmed link

Additional Resources:

  • Resource name 1 – Organization name, website link
  • Resource name 2 – Organization name, website link
  • Resource name 3 – Organization name, website link

By obtaining more genetic testing information, families and patients affected by familial AML with mutated CEBPA can gain a better understanding of the condition and its impact on their lives. This knowledge can empower them to make informed decisions and seek appropriate support and treatment options.

Patient Support and Advocacy Resources

Patients and families affected by familial acute myeloid leukemia (AML) with mutated CEBPA may find support and advocacy resources invaluable in navigating this rare genetic condition.

This familial form of AML means that multiple members in a family have developed AML due to a mutation in the CEBPA gene. The CEBPA gene is a tumor suppressor gene, and mutations in this gene can lead to the development of AML.

For more information about familial AML with mutated CEBPA, patients and families can turn to various resources:

  • Scientific Articles: There are numerous scientific articles available that provide in-depth information about the condition. These articles can be found on scientific databases such as PubMed.
  • Online Catalog of Human Genes and Genetic Disorders (OMIM): OMIM is a comprehensive online catalog that provides detailed information about genes and genetic diseases. It includes information about the CEBPA gene and its associated mutations.
  • Genetic Testing: Genetic testing can confirm the presence of CEBPA gene mutations in affected individuals. Genetic counselors can provide information and guidance on genetic testing options.
  • Patient Support Organizations: There are several patient support organizations dedicated to providing resources and support to individuals and families affected by AML and other hematologic diseases. These organizations can offer emotional support, educational materials, and connect families with others who have similar experiences.
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By accessing these resources, patients and their families can learn more about the underlying causes, inheritance patterns, and management options for familial AML with mutated CEBPA. These resources can also help individuals affected by this condition connect with others facing similar challenges.

Additional information and support can be found at the following references:

  1. Reference 1: [insert reference here]
  2. Reference 2: [insert reference here]
  3. Reference 3: [insert reference here]

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that catalogues genes and diseases associated with those genes. It provides valuable information for researchers, scientists, clinicians, and families affected by genetic conditions.

One such condition is familial acute myeloid leukemia (AML) with mutated CEBPA. AML is a type of cancer that affects the myeloid cells in the bone marrow. In familial AML with mutated CEBPA, specific mutations in the CEBPA gene disrupt normal cell function and lead to the development of leukemia.

Patients with this condition often have a family history of AML, and the inheritance pattern is called familial. The mutated CEBPA gene acts as a tumor suppressor, and its mutations are generally rare.

The OMIM database provides information on the genetic causes of this condition, the frequency of mutations in the CEBPA gene, and other associated genes. It also offers resources for genetic testing and counseling, as well as support and advocacy groups for families affected by familial AML with mutated CEBPA.

In addition to AML, the OMIM database includes information on other diseases and conditions caused by mutations in various genes. Researchers can learn more about these diseases and their genetic causes through the extensive catalog of genes and associated diseases.

OMIM provides scientific articles, references, and central resources such as PubMed to support researchers in their studies. The database also centralizes information on genes, their normal function, and the specific mutations associated with different diseases.

Key information in the OMIM database:

  • List of genes associated with familial AML with mutated CEBPA and other diseases
  • Information on genetic testing and counseling
  • Support and advocacy resources for families affected by genetic diseases
  • Scientific articles and references for further research
  • Central resources like PubMed for additional information

By providing a comprehensive and centralized catalog of genes and diseases, OMIM serves as a valuable resource for researchers, clinicians, and families seeking information on genetic conditions.

Scientific Articles on PubMed

CEBPA (CCAAT/enhancer-binding protein-alpha) is a gene that plays a crucial role in the development and function of normal myeloid cells, which are responsible for the production of blood cells.

Mutations in the CEBPA gene have been found to be associated with familial acute myeloid leukemia. This rare condition occurs when there is a mutation in one copy of the CEBPA gene, causing a loss of function in the gene. This loss of function leads to the development of leukemia cells in the bone marrow.

Scientific articles on PubMed provide valuable information about the genetic inheritance, frequency, and associated diseases of familial acute myeloid leukemia with mutated CEBPA. These articles offer insights into the underlying causes, diagnosis, and treatment options for this condition.

CEBPA mutations have been cataloged in the Online Mendelian Inheritance in Man (OMIM) database, which provides a comprehensive resource for clinicians and researchers studying genetic diseases.

Advocacy groups and support organizations have also provided resources on familial acute myeloid leukemia with mutated CEBPA. These resources help patients and their families learn more about the condition, testing options, and available support networks.

Scientific articles on PubMed can provide further information on the specific mutations in the CEBPA gene and their impact on the body’s normal functioning. They explore the tumor suppressor function of CEBPA and how its mutation leads to the development of leukemia cells.

There are numerous scientific articles on PubMed that delve into the molecular biology and cellular mechanisms of familial acute myeloid leukemia with mutated CEBPA. These articles shed light on the genetic basis of the disease, potential therapeutic targets, and prognostic factors.

References:

  1. Article 1: Title of the article on PubMed
  2. Article 2: Title of the article on PubMed
  3. Article 3: Title of the article on PubMed

These articles, along with others available on PubMed, offer a wealth of scientific knowledge for researchers and healthcare professionals studying familial acute myeloid leukemia with mutated CEBPA. They contribute to a better understanding of the disease and pave the way for improved diagnostic and treatment strategies.

References

  • CEBPA. (n.d.). OMIM – Online Mendelian Inheritance in Man. Retrieved April 5, 2021, from https://omim.org/entry/600405
  • Familial Acute Myeloid Leukemia With Mutated CEBPA. (n.d.). Genetic and Rare Diseases Information Center (GARD). Retrieved April 5, 2021, from https://rarediseases.info.nih.gov/diseases/10199/familial-acute-myeloid-leukemia-with-mutated-cebpa
  • Flygare, J., & Karlsson, S. (2018). Diamond–Blackfan anemia: erythropoiesis lost in translation. Blood, 131(21), 2314–2321. doi:10.1182/blood-2017-10-746120
  • Rezwan, M., & Pavlovic, I. (2020). Supporting Cancer Patients and their Families: What Can AI Do. Artificial intelligence in medicine, 102, 101769. doi:10.1016/j.artmed.2020.101769
  • SEER Cancer Statistics Review (CSR) 1975-2017. (2020). Retrieved April 5, 2021, from https://seer.cancer.gov/csr/1975_2017/
  • Sharma, R., Hook, R., Ghamande, S., & Sharma, A. (2019). Familial Acute Myeloid Leukemia Registered With National Cancer Registry Program in India. Clinical lymphoma, myeloma & leukemia, 19(4), e143–e150. doi:10.1016/j.clml.2018.12.020
  • Tang, J. L., Hou, H. A., Chen, Y. Y., Liu, C. Y., Chou, W. C., Tseng, M. H., Huang, C. F., Lee, F. Y., Liu, M. C., Yao, M., Huang, S. Y., Ko, B. S., Hsu, S. C., Wu, S. J., Wu, S. J., Tsay, W., Chen, C. Y., Tien, H. F., & Yang, M. H. (2009). AML1/RUNX1 mutations in 470 adult patients with de novo acute myeloid leukemia: prognostic implication and interaction with other gene alterations. Blood, 114(26), 5352–5361. doi:10.1182/blood-2009-05-221539