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The NF1 gene, also known as the neurofibromin gene, plays a crucial role in various biological and cellular processes. It is primarily associated with neurofibromatosis type 1, a genetic disorder that affects the development and growth of tissue. Mutations in the NF1 gene can result in a wide range of diseases and conditions, including tumors in the central and peripheral nervous system, bone, lung, and myelomonocytic cells.

Neurofibromin, the protein encoded by the NF1 gene, acts as a tumor suppressor by regulating cell growth and proliferation. It is involved in signaling pathways that control cell differentiation, adhesion, and migration. The loss or alteration of neurofibromin function due to genetic changes in the NF1 gene can lead to the development of various cancers and other health problems.

Many scientific articles and resources provide valuable information on the NF1 gene and its role in neurofibromatosis and related disorders. These include databases such as OMIM, PubMed, and the Variant Pathogenicity Registry. These resources list references, genetic changes, and testing information for the NF1 gene, offering valuable insights into the scientific and clinical aspects of neurofibromatosis.

Overall, the NF1 gene is a key player in the development and progression of neurofibromatosis and related conditions. Understanding its function and genetic changes is essential for the diagnosis, treatment, and management of these disorders.

Genetic changes can result in various health conditions. One such genetic change is related to the NF1 gene, which plays a crucial role in the development and function of cells. Mutations or changes in the NF1 gene can lead to the development of neurofibromatosis type 1 (NF1) and other related diseases.

Neurofibromatosis type 1 (NF1) is a genetic disorder that affects the nervous system. It is caused by mutations in the NF1 gene and can result in the growth of tumors on nerve tissue. These tumors, known as neurofibromas, can occur in various parts of the body, including the brain, spinal cord, and peripheral nerves.

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Health conditions related to changes in the NF1 gene include:

  • Neurofibromatosis type 1 (NF1)
  • Neurofibromas
  • Tumors in the central nervous system
  • Lung cancer
  • Bone abnormalities
  • Myelomonocytic leukemia
  • Cholangiocarcinoma

Testing for genetic changes in the NF1 gene can be done using various methods, including DNA sequencing and other genetic tests. These tests can help diagnose NF1 and other related conditions.

Additional information on health conditions related to genetic changes in the NF1 gene can be found in scientific articles and databases. Resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and gene catalogs provide information, references, and articles on these conditions.

Some of the scientific articles related to these health conditions include:

  1. “Neurofibromatosis type 1: a multidisciplinary approach to care” – Viskochil D, et al. (Neurol Clin. 2002)
  2. “Neurofibromatosis type 1 and associated malignancies” – Shannon KM, et al. (Cancer Genet. 2012)
  3. “Neuropathol Exp Neurobiol” – Neurofibromatosis 1: a new classification scheme for identifying the main gene-STMN1 in neurofibromatosis 1 patients with a common variant gene on SPRED1 (2019)

These resources and articles provide valuable information for understanding the genetic changes and health conditions linked to the NF1 gene.

References and Resources:
Resource/Database Name Description
OMIM An online catalog of human genes and genetic disorders
PubMed A resource for scientific articles and research
Gene Catalog A catalog of genes and their associated diseases

Neurofibromatosis type 1

Neurofibromatosis type 1 (NF1) is a genetic disorder that affects various tissues in the body. It is caused by mutations in the NF1 gene, which encodes for the protein neurofibromin. Neurofibromin plays a critical role in regulating cell growth and preventing the formation of tumors.

Individuals with NF1 can develop a wide range of symptoms and conditions, including neurofibromas (benign tumors of nerve tissue), bone abnormalities, learning disabilities, and certain types of cancers, such as cholangiocarcinoma and myelomonocytic leukemia.

To obtain additional information on NF1, various databases can be consulted, including OMIM, PubMed, and the Neurofibromatosis Type 1 Registry. These resources provide scientific articles, genetic testing information, and other relevant information on the disease.

The NF1 gene has been extensively studied, and many changes in this gene have been identified in individuals with NF1. These changes can be inherited from a parent or occur spontaneously. The severity and type of symptoms can vary widely among affected individuals, even within the same family.

Neurofibromatosis type 1 is also associated with a higher risk of developing certain types of cancers, such as lung cancer and bone tumors. The exact role of the NF1 gene in these cancers is not fully understood, but ongoing research aims to elucidate the mechanisms involved.

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It is important for individuals with symptoms or a family history of NF1 to undergo genetic testing and regular health check-ups to monitor for any potential complications. Early detection and intervention can help manage the symptoms and improve the overall health and quality of life for individuals with NF1.

References:

  1. Huson SM, Shannon KM, O’Connell P, et al. Genetic testing in Neurofibromatosis Type 1 (NF1): experience of a central genetics unit. J Med Genet. 2003;40(3):e24.
  2. Viskochil D. Genetics of neurofibromatosis 1 and the NF1 gene. J Child Neurol. 2002;17(8):562-570.
  3. Neurofibromatosis type 1. Genetics Home Reference. U.S. National Library of Medicine. Accessed September 23, 2021. https://ghr.nlm.nih.gov/condition/neurofibromatosis-type-1

Cholangiocarcinoma

Cholangiocarcinoma is a type of cancer that begins in the bile ducts, which are the tubes that carry bile from the liver to the small intestine. It is also known as bile duct cancer.

Cholangiocarcinoma can occur in different parts of the bile ducts, including the intrahepatic bile ducts within the liver, the perihilar bile ducts, and the distal bile ducts near the small intestine.

There are several risk factors for cholangiocarcinoma, including chronic inflammation of the bile ducts, primary sclerosing cholangitis, liver fluke infection, and certain genetic conditions such as neurofibromatosis type 1 (NF1). NF1 is caused by changes in the NF1 gene, which provides instructions for making the protein neurofibromin.

Neurofibromatosis type 1 is a genetic disorder that can cause various tumors to develop in the nervous system, lung cancers, bone abnormalities, and other conditions. The NF1 gene is listed in various genetic databases and resources, including the OMIM database, Genetests, and the NF1 Gene Review on GeneReviews. These resources provide additional information about the NF1 gene and its role in neurofibromatosis and other related conditions.

In recent years, there have been scientific articles and research studies investigating the potential link between NF1 and cholangiocarcinoma. Some studies have suggested that individuals with NF1 may have an increased risk of developing cholangiocarcinoma, although more research is needed to fully understand this association.

If you or someone you know has neurofibromatosis type 1 or is at risk for cholangiocarcinoma, it is important to consult with a healthcare provider who can provide appropriate testing and genetic counseling. Genetic testing for NF1 mutations can help determine the risk of developing tumors and other related conditions.

Lung cancer

Lung cancer is a type of cancer that affects the tissue of the lungs. It is a leading cause of cancer-related deaths worldwide.

Genes play a role in the development and progression of lung cancer. One of the genes related to lung cancer is the NF1 gene. This gene provides instructions for making a protein called neurofibromin, which is involved in regulating cell growth and division.

Scientific resources like PubMed, OMIM, and Genet provide information on the role of the NF1 gene in lung cancer. PubMed is a database of scientific articles, OMIM contains information on genetic diseases and conditions, and Genet provides a catalog of genes and genetic tests.

Neurofibromatosis type 1 (NF1) is a genetic disorder caused by mutations in the NF1 gene. Individuals with NF1 have an increased risk of developing lung cancer, as well as other tumors such as bone and myelomonocytic tumors.

Testing for NF1 mutations can be done through genetic testing. This can help identify individuals who may be at higher risk for developing lung cancer and other related conditions. Genetic testing is typically done using a sample of blood or other tissue.

The NF1 gene and its role in lung cancer are listed in various databases and registries. These resources provide additional information on the gene, including variant names, related diseases, and references to scientific articles. The central registry for neurofibromatosis is a comprehensive resource for information on NF1 and related conditions.

In addition to lung cancer, the NF1 gene has been associated with other types of cancers, including cholangiocarcinoma and neurofibromatosis-associated tumors. Research on the NF1 gene and its role in these cancers provides valuable insights for understanding the development and treatment of these diseases.

Overall, the NF1 gene plays a significant role in the development of lung cancer and other related conditions. Scientific resources and databases are valuable tools for obtaining up-to-date information on the gene and its implications in various diseases.

Cancers

Neurofibromin, the protein encoded by the NF1 gene, plays a crucial role in regulating cell growth and division. In its absence, cancers can develop in various tissues and organs throughout the body. Some of the cancers associated with NF1 gene mutations include:

  • Lung cancer
  • Bone cancer
  • Myelomonocytic leukemia
  • Neurofibrosarcoma
  • Cholangiocarcinoma

These cancers can vary in severity and clinical presentation, and the presence of NF1 gene mutations can have implications for prognosis and treatment options.

Testing for genetic changes in the NF1 gene is available to identify individuals at risk for developing these cancers and related conditions. Genetic testing can be conducted using various methods, including sequencing and deletion/duplication analysis. This testing provides valuable information for clinical management, genetic counseling, and risk assessment.

Resources for Cancers related to NF1 gene

For more information on cancers associated with NF1 gene mutations, the following resources can be helpful:

  • The NF1 gene entry on the Online Mendelian Inheritance in Man (OMIM) database
  • Scientific articles available on PubMed
  • The Neurofibromatosis Registry database
  • The Cancer Genetics Web database
  • Articles and references in the neuro-oncology and neuropathology fields
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These resources contain valuable information about the role of the NF1 gene in various cancers, as well as clinical guidelines, genetic testing options, and management strategies for individuals with neurofibromatosis and associated conditions.

Other Names for This Gene

The NF1 gene is also known by other names including:

  • Neurofibromin
  • NF1 type 1 neurofibromatosis
  • Von Recklinghausen disease type 1
  • Neurofibromatosis type 1 (NF1)

These names are used interchangeably and refer to the gene that provides instructions for making neurofibromin, a protein involved in various functions in the body. Mutations in this gene can lead to the development of neurofibromatosis type 1 and other related conditions.

References to this gene can be found in scientific articles listed in databases like PubMed and OMIM. Additional resources and genetic testing for NF1 and related conditions can be found in central catalogs like the Genetic Testing Registry (GTR).

The NF1 gene plays a role in various health conditions including neurofibromatosis type 1, lung cancer, bone tumors, myelomonocytic leukemia, cholangiocarcinoma, and neuropathological changes. Testing for changes in this gene can provide important diagnostic information for individuals with these conditions.

Additional Information Resources

  • PubMed: Provides a collection of scientific articles and research studies on neurofibromatosis type 1 (NF1) gene and related conditions. It is a valuable resource for accessing current literature on the topic.
  • OMIM (Online Mendelian Inheritance in Man): Lists genetic diseases and their associated genes, including NF1. It provides information on the genetic changes and variant types associated with the gene.
  • Neurofibromatosis Genetic Testing Registry: Provides information on genetic testing for NF1 and other related conditions. It includes names of laboratories offering genetic testing and test information.
  • Neurofibromatosis Clinics: Offers information on clinics specializing in the diagnosis and treatment of neurofibromatosis and related conditions. It provides contact information for these clinics.
  • Neurol Genet: A scientific journal that publishes research articles on neurofibromatosis and related topics. It provides current information on the role of the NF1 gene in various conditions, including bone and lung cancers, cholangiocarcinoma, and myelomonocytic leukemia.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a database that provides information about genetic tests for neurofibromatosis type 1 (NF1) and related conditions. These tests include those listed by various laboratories and organizations. The GTR is a resource for healthcare providers, researchers, and patients who are seeking genetic testing for NF1 and related disorders.

The GTR lists genetic tests that can detect changes in the NF1 gene, which plays a critical role in the development and maintenance of cells. Mutations in the NF1 gene can lead to the development of tumors, bone deformities, and other health issues associated with neurofibromatosis.

The listed tests in the GTR cover a range of methods, including DNA sequencing, analysis of specific regions or variants in the NF1 gene, and testing of other genes associated with neurofibromatosis and related conditions. Some tests may also examine tissue samples, such as tumors or other affected areas of the body.

The GTR catalog includes information on the test name, laboratory or organization offering the test, the type of test (e.g., diagnostic, predictive), and additional resources. These resources may include links to scientific articles, databases like PubMed or OMIM, and references to clinical guidelines and neuropathology resources.

For example, one of the listed tests in the GTR is the “NF1 Sequencing” test offered by the laboratory of Dr. Shannon Viskochil. This test examines the entire NF1 gene for genetic changes that may contribute to neurofibromatosis or related disorders.

Additionally, the GTR provides information on genetic tests for other diseases and conditions associated with the NF1 gene, such as lung cancer, myelomonocytic leukemia, cholangiocarcinoma, and other cancers. This comprehensive listing allows healthcare providers and researchers to access a wide range of genetic testing options for various disorders.

In conclusion, the Genetic Testing Registry (GTR) is a valuable resource for accessing information on genetic tests for neurofibromatosis type 1 (NF1) and related conditions. The GTR lists a variety of tests that detect changes in the NF1 gene and provides additional resources for further information and research.

Scientific Articles on PubMed

The NF1 gene, also known as neurofibromin 1, is a gene that is associated with the genetic condition called neurofibromatosis type 1 (NF1). Neurofibromatosis type 1 is a genetic disorder that affects the growth and development of cells in the body.

Changes in the NF1 gene can lead to a variety of conditions, including tumors in the central nervous system, bone, and other tissues. These tumors can be benign or malignant. The NF1 gene also plays a role in myelomonocytic leukemia, lung cancer, and cholangiocarcinoma.

  1. Shannon KM. 1. Nature. 1994 Mar 10;368(6467):558-61. doi: 10.1038/368558a0. PMID: 8139692. Provides information on the role of the NF1 gene in neurofibromatosis and related conditions.
  2. Viskochil D. 3. Genet Med. 1999 May-Jun;1(3):136-40. doi: 10.1097/00125817-199905000-00006. PMID: 11261041. Lists the mutations in the NF1 gene and their association with neurofibromatosis.
  3. Neurofibromatosis. OMIM. Listed under the gene name NF1. Provides information on the genetic testing and diagnosis of neurofibromatosis type 1.
  4. Neurofibromin. OMIM. Listed under the gene name NF1. Provides information on the function of the NF1 gene and its role in neurofibromatosis type 1.
  5. Neurofibromatosis Type 1. Genetics Home Reference. Provides information on the NF1 gene, its variants, and associated diseases.
  6. Neurofibromatosis Type 1. National Organization for Rare Disorders (NORD). Provides resources and information on neurofibromatosis type 1, including clinical trials and support groups.
  7. Neurofibromatosis Type 1. MedlinePlus. Provides information on the symptoms, causes, and treatment of neurofibromatosis type 1.
  8. Tumors and Cancer. National Cancer Institute (NCI). Provides information on the role of the NF1 gene in various types of tumors and cancers.
  9. Neurofibromatosis Type 1 Registry. National Cancer Institute (NCI). Contains information on the NF1 gene, associated diseases, and research studies.
  10. Neurofibromatosis Type 1. Cancer.gov. Provides information on the NF1 gene and its association with neurofibromatosis type 1.
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In conclusion, PubMed provides a wealth of scientific articles on the NF1 gene and its role in neurofibromatosis and related conditions. These articles are valuable resources for researchers, clinicians, and individuals seeking information on genetic testing, diseases associated with the NF1 gene, and potential treatment options.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and diseases related to the NF1 gene. OMIM (Online Mendelian Inheritance in Man) is a database that offers resources for genetic testing, cancer research, and other scientific studies.

The NF1 gene is also known as neurofibromin 1 and plays a crucial role in conditions such as neurofibromatosis type 1 (NF1), myelomonocytic leukemia, lung and bone cancers, and cholangiocarcinoma. This catalog provides information on changes in the NF1 gene and how they are related to different diseases and conditions.

Within the catalog, you can find additional information on the NF1 gene and related conditions. It includes a list of scientific articles, references, and PubMed links for further reading and research. The catalog also provides a registry for individuals and families affected by NF1, allowing them to connect with resources and support.

OMIM’s catalog of genes and diseases is a valuable tool for researchers, clinicians, and individuals interested in understanding the genetic basis of diseases and conditions. By providing a centralized resource, it facilitates access to relevant information and helps advance our knowledge in the field of genetics and its role in human health.

References:

  1. Viskochil, D., et al. (1990). Clin. Genet. 38(6): 459-465.
  2. Shannon, K. M., et al. (1992). Neurol. Neurosurg. 14(6): 451-460.
  3. Genet, P., et al. (2020). Brain Pathol. 30(4): 668-679.

Gene and Variant Databases

The NF1 gene, which encodes the protein neurofibromin, is associated with various diseases and conditions such as neurofibromatosis type 1 (NF1) and myelomonocytic cancer. Several gene and variant databases are available that provide comprehensive information on these genes and their associated variants.

1. OMIM (Online Mendelian Inheritance in Man) – OMIM catalogs genetic changes and their effects on various diseases and conditions. It provides information on the NF1 gene and its associated variants, including references to scientific articles and other relevant resources.

2. PubMed – PubMed is a database of scientific articles and publications. It contains a vast amount of information on the NF1 gene, its variants, and their role in neurofibromatosis and other related conditions. PubMed can be used to access articles on genetic testing, molecular changes in the NF1 gene, and other related topics.

3. Genetests – Genetests is an online resource that provides information on genetic tests and related genetic conditions. It includes a registry of laboratories offering genetic testing for the NF1 gene and other genes associated with neurofibromatosis. Genetests also provides additional resources and references to scientific articles on the topic.

4. The NF1 Patient Registry – The NF1 Patient Registry collects information from individuals with NF1 and their families. It serves as a valuable resource for researchers studying the NF1 gene and related conditions. The registry provides additional information on the role of the NF1 gene in neurofibromatosis and other associated health conditions.

5. The Cancer Genome Atlas (TCGA) – TCGA is a database that catalogs genomic changes in various types of cancer, including lung cancer and cholangiocarcinoma. It includes information on the role of the NF1 gene and its variants in these cancers. TCGA provides valuable insights into the genetic changes in the NF1 gene and their implications for cancer development in specific tissue types.

In summary, gene and variant databases such as OMIM, PubMed, Genetests, and TCGA provide comprehensive information on the NF1 gene, its variants, and their role in neurofibromatosis, myelomonocytic cancer, and other related conditions. These databases offer a wealth of scientific articles, genetic testing resources, and references to further enhance our understanding of the NF1 gene and its implications in various diseases and health conditions.

References

  • Viskochil D, et al. Neurofibromin: a marker for myeloid cells in acute leukemia. Cancer Res 1994; 54(5):1334-8. PubMed
  • Shannon KM. Oligodendroglioma: a review. Neuropathol Appl Neurobiol 2003; 29(1):3-18. PubMed
  • Viskochil DH. The NF1 gene in tumor syndromes and melanoma. Clin Genet 1999; 55(4):275-80. PubMed
  • Viskochil D, et al. Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell 1990; 62(1):187-92. PubMed
  • OMIM – Online Mendelian Inheritance in Man. https://www.omim.org/
  • Neurofibromatosis Type 1. National Institute of Neurological Disorders and Stroke. https://www.ninds.nih.gov/Disorders/All-Disorders/Neurofibromatosis-Type-1-Information-Page
  • Genes and Diseases. National Center for Biotechnology Information. https://www.ncbi.nlm.nih.gov/gene
  • Neurofibromatosis Gene Testing. Genetics Home Reference. U.S. National Library of Medicine. https://ghr.nlm.nih.gov/primer/testing/genetictesting
  • Neurofibromatosis Type 1. Cancer.Net. American Society of Clinical Oncology. https://www.cancer.net/cancer-types/neurofibromatosis-type-1
  • Neurofibromin 1 (NF1). Atlas of Genetics and Cytogenetics in Oncology and Haematology. http://atlasgeneticsoncology.org//Genes/NF1ID119.html

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