The RET gene is a common proto-oncogene that is closely related to the development and progression of various diseases. Mutations in this gene have been found to cause several conditions, including multiple endocrine neoplasia type 2A and 2B, Hirschsprung disease, and pheochromocytomas. These diseases are characterized by the formation of tumors in hormone-producing cells, nerves, and certain organs like the lungs.

The RET gene, also known as the REarranged during Transfection gene, functions as a receptor tyrosine kinase. It plays a crucial role in various cellular processes, including cell growth, cell survival, and cell differentiation. Changes in this gene can lead to abnormal cell growth and the development of cancer.

Information about the RET gene and its associated diseases can be found in various scientific databases and resources like OMIM, the Online Mendelian Inheritance in Man catalog, and other genetic testing resources. These databases provide detailed information about the gene, its functions, and the specific genetic changes or mutations that can cause disease.

Testing for RET gene mutations is available and can be used to diagnose certain diseases and cancers associated with these mutations. These tests are often performed on blood or tissue samples and can help healthcare professionals determine the best course of treatment for patients.

In conclusion, the RET gene is an important member of the proto-oncogene family, and its mutations can cause a variety of diseases and cancers. Understanding the functions and genetic changes within this gene is crucial for the development of targeted therapies and diagnostic tests for associated diseases and conditions. Continued research and scientific articles on this gene will provide valuable insights into its role in health and disease.

Health Conditions Related to Genetic Changes

The RET gene, also known as the rearranged during transfection gene, is a proto-oncogene that plays a crucial role in the development and function of nerves. Genetic changes in the RET gene have been associated with various health conditions, including:

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• Hirschsprung disease: Certain genetic variants in the RET gene have been found to be responsible for Hirschsprung disease, a condition characterized by the absence of nerve cells in the muscles of the colon.
• Pheochromocytoma and multiple endocrine neoplasia type 2 (MEN2): Mutations in the RET gene can cause these rare hormone-producing tumors, which primarily affect the adrenal glands.
• Lung cancer: The RET gene has been implicated in the development of certain types of lung cancer, particularly in patients with a history of smoking.
• Paraganglioma: Genetic changes in the RET gene have also been associated with paragangliomas, rare tumors that occur outside of the adrenal glands.

These conditions and the genetic changes in the RET gene that cause them have been extensively studied and documented in scientific articles, databases, and other resources. Some references for further information on these health conditions related to genetic changes in the RET gene include OMIM (Online Mendelian Inheritance in Man) and PubMed, which provide comprehensive information on genetic diseases and scientific publications.

To better understand the role of genetic changes in the RET gene in these health conditions, researchers have conducted various tests, including transfection experiments and functional studies on RET gene mutations. These studies have provided valuable insights into the molecular mechanisms underlying these diseases and have paved the way for the development of targeted therapies.

It is important to note that mutations in the RET gene can cause both syndromic and nonsyndromic forms of the aforementioned health conditions. Syndromic forms are associated with additional features and symptoms, while nonsyndromic forms are characterized by the presence of the disease without any accompanying abnormalities.

In summary, genetic changes in the RET gene can lead to a variety of health conditions, including Hirschsprung disease, pheochromocytoma and multiple endocrine neoplasia type 2, lung cancer, and paraganglioma. These conditions have been extensively studied and documented in scientific literature, and resources such as OMIM and PubMed provide valuable information on them. Understanding the genetic basis of these diseases is crucial for developing effective diagnostic tests and targeted therapies.

Nonsyndromic paraganglioma

Nonsyndromic paraganglioma refers to a type of paraganglioma that occurs without any associated syndromes or genetic variants. Paragangliomas are rare tumors that arise from the cells of the paraganglia, which are clusters of neuroendocrine cells found along the nerves.

The RET gene is a proto-oncogene that is associated with multiple endocrine neoplasia types 2A and 2B, as well as Hirschsprung disease. However, RET gene mutations are not commonly associated with nonsyndromic paraganglioma.

Although nonsyndromic paraganglioma is not typically caused by genetic changes in the RET gene, there may be other genetic or environmental factors involved in the development of the disease. Some studies have identified genetic changes in other genes, such as SDHD, SDHB, and SDHC, which are associated with hereditary paraganglioma and pheochromocytomas.

Genetic testing can be performed to identify mutations in these associated genes and provide information about the risk of developing paraganglioma. Additionally, various resources and databases, such as the Online Mendelian Inheritance in Man (OMIM) database, provide scientific articles and information on genetic changes and diseases.

Paragangliomas can occur in various locations within the body, including the head, neck, and abdomen. These tumors can be hormone-producing and cause symptoms related to the excess production of certain hormones, such as adrenaline and noradrenaline.

The characteristic features and functions of the RET gene, as well as its role in other diseases like lung cancer, are listed in scientific articles and databases. The RET gene is involved in cell growth, cell division, and cell differentiation, among other important cellular processes.

In conclusion, while RET gene mutations are not commonly associated with nonsyndromic paraganglioma, other genetic changes in genes such as SDHD, SDHB, and SDHC have been found to be associated with this disease. Genetic testing and additional research are necessary to further understand the causes and mechanisms of nonsyndromic paraganglioma.

Hirschsprung Disease

Hirschsprung disease, also known as congenital aganglionic megacolon, is a genetic disorder that primarily affects the large intestine (colon) and causes problems with the movement of stool through the colon. This condition is caused by mutations in the RET gene.

The RET gene provides instructions for making a protein that is essential for the development of nerve cells in the intestines. Nerve cells in the intestines control the movement of stool through the digestive tract. Mutations in the RET gene disrupt the normal development of these nerve cells, leading to the absence of nerve cells in certain parts of the intestine. This results in a segment of the intestine without the usual nerve functions, which affects the normal movement of stool.

Hirschsprung disease is typically diagnosed in infancy or early childhood. Symptoms may vary, but common signs include difficulty passing stool, constipation, abdominal bloating, and a swollen belly. In some cases, Hirschsprung disease can be associated with other genetic conditions or syndromes.

The diagnosis of Hirschsprung disease is usually based on clinical presentation, radiological studies, and rectal biopsy. Genetic testing for mutations in the RET gene can provide additional information to support the diagnosis.

Treatment for Hirschsprung disease usually involves surgery to remove the affected segment of the intestine. In some cases, additional surgeries may be needed to reconstruct the intestine and restore normal bowel function.

Research on Hirschsprung disease is ongoing, and scientists continue to investigate the genetic and molecular basis of the condition. The RET gene is just one of several genes associated with Hirschsprung disease, and further research is needed to fully understand the complex genetic factors involved.

References:

• National Library of Medicine. (2021). Hirschsprung Disease. Retrieved from https://pubmed.ncbi.nlm.nih.gov/32053714/
• OMIM. (2021). Hirschsprung Disease. Retrieved from https://omim.org/entry/142623

Multiple endocrine neoplasia

Multiple endocrine neoplasia (MEN) is a group of inherited genetic disorders that affect the endocrine system. These disorders are caused by changes in specific genes, including the RET gene, which is a proto-oncogene.

MEN can lead to the development of tumors in multiple glands, including the thyroid, parathyroid, and adrenal glands. Pheochromocytomas, which are tumors that arise from the adrenal medulla, can also be associated with MEN. These tumors are hormone-producing and can cause various symptoms and reactions in the body.

The RET gene, located on chromosome 10, codes for a receptor tyrosine kinase that is involved in multiple functions within cells. Mutations in this gene can cause MEN, as well as other related conditions such as Hirschsprung disease, which affects the enteric nervous system.

To diagnose MEN, genetic testing can be performed to look for changes or mutations in the RET gene. Other tests, such as hormone-producing tumor markers or imaging tests, may also be done to identify specific tumors or assess their activity.

Scientific articles and resources, such as PubMed, OMIM, and gene mutation databases, provide additional information on the genetic changes associated with MEN and related conditions. These resources can be used to further understand the disease and provide insights into potential treatment options.

Overall, multiple endocrine neoplasia is a group of genetic disorders that can lead to the development of various endocrine-related cancers and diseases. Understanding the genetic and molecular basis of these conditions is crucial for improved diagnosis, treatment, and management of affected individuals.

Lung cancer

Lung cancer is a type of cancer that is listed among the common cancers. It is related to changes in the RET gene, which is a proto-oncogene. The RET gene is responsible for the production of proteins that are involved in various functions within the body.

Mutations in the RET gene can lead to the development of lung cancer, as well as other related cancers such as Hirschsprung disease, paraganglioma, and multiple endocrine neoplasia. Testing for genetic mutations in the RET gene can be useful in diagnosing these conditions.

Scientific articles and studies have provided additional information on the role of the RET gene in lung cancer. The PubMed database and other scientific databases can be used to find relevant articles and references related to this topic.

Within the context of lung cancer, the RET gene is known to be involved in the development of certain types of lung cancers, such as hormone-producing lung cancers and adenocarcinomas.

It is important to note that the RET gene is just one of many genes that can cause lung cancer. Other genetic mutations and environmental factors can also play a role in the development of this disease.

For more information on lung cancer and the role of the RET gene, additional research and testing may be necessary. Genetic testing can help identify the presence of specific genetic mutations in the RET gene, which can be helpful for determining the appropriate treatment and management options.

In conclusion, the RET gene is an important member of the genetic catalog related to lung cancer. Mutations in this gene can be a cause of certain types of lung cancer, as well as other related diseases. The RET gene and its variants have been extensively studied and documented in scientific articles and databases like PubMed. Further research and testing are necessary to fully understand the role of the RET gene in lung cancer and to develop effective treatments for this disease.

Other cancers

The RET gene is involved in the development and progression of various types of cancers outside of the endocrine system. These cancers include:

• Lung cancer: Mutations in the RET gene have been found in a subset of lung cancer cases. These mutations can cause abnormal cell growth and division, leading to the formation of tumors.
• Enteric neoplasia: Certain changes in the RET gene have been associated with the development of enteric neoplasia, a type of cancer that affects the cells lining the gastrointestinal tract.
• Pheochromocytomas and paragangliomas: Pheochromocytomas and paragangliomas are hormone-producing tumors that can occur in various parts of the body, such as the adrenal glands and the head and neck region. Mutations in the RET gene have been identified in some cases of these tumors.

In addition to the cancers listed above, the RET gene has also been implicated in other genetic diseases and conditions, such as Hirschsprung disease. Hirschsprung disease is a disorder that affects the nerves in the colon and causes problems with bowel movements.

Scientific research and databases, such as PubMed and OMIM, provide additional information and references for the association of the RET gene with these cancers and associated diseases. Genetic testing and mutation analysis of the RET gene can be used as diagnostic tools for individuals suspected to have these conditions.

Further studies and resources are available for those interested in learning more about the role of the RET gene in cancer and other diseases.

Other Names for This Gene

• Proto-oncogene RET: The RET gene is a proto-oncogene. Proto-oncogenes are genes that can cause cancer when mutated.
• Hirschsprung disease 1: Mutations in the RET gene can cause Hirschsprung disease, a condition that affects the colon and results in intestinal blockage.
• Multiple endocrine neoplasia 2A: Some mutations in the RET gene are associated with multiple endocrine neoplasia type 2A, a disorder characterized by the development of tumors in hormone-producing cells.
• Multiple endocrine neoplasia 2B: Mutations in the RET gene can also cause multiple endocrine neoplasia type 2B, a condition similar to type 2A but with additional features including tumors of the nerves and mucous membranes.
• Medullary thyroid carcinoma: Changes in the RET gene can lead to medullary thyroid carcinoma, a type of thyroid cancer that originates from the C cells of the thyroid gland.
• Paraganglioma and gastric stromal sarcoma: In some cases, mutations in the RET gene are associated with the development of paragangliomas and gastric stromal sarcomas.
• Shepherd variant of Hirschsprung disease: The Shepherd variant of Hirschsprung disease is caused by certain mutations in the RET gene.

In scientific literature, the RET gene may also be referred to by other names, including:

These names and their associated conditions or diseases documented in scientific literature and databases can be referenced for further information and research on the RET gene.

Additional Information Resources

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the RET gene and its associated diseases, including Hirschsprung disease and multiple endocrine neoplasia type 2 (MEN2). It also includes references to relevant articles and genetic changes associated with these conditions. You can access the RET gene entry in the OMIM database by searching for the gene name or its associated diseases.
• PubMed: PubMed is a database of biomedical literature, including scientific articles related to the RET gene and its associated diseases. Searching for key terms such as “RET gene,” “Hirschsprung disease,” or “multiple endocrine neoplasia” will yield relevant articles and research studies.
• GeneReviews: GeneReviews is an online resource that provides expert-authored, peer-reviewed articles on genetic conditions. The RET gene and its associated diseases, such as Hirschsprung disease and multiple endocrine neoplasia, are covered extensively in GeneReviews. These articles provide comprehensive information on clinical characteristics, diagnosis, management, and genetic testing options for these conditions.
• Human Gene Mutation Database (HGMD): HGMD is a comprehensive catalog of inherited human gene mutations and their associated diseases. It contains information on mutations in the RET gene that cause Hirschsprung disease and other related conditions. Searching for the RET gene in the HGMD database will provide a list of reported mutations and their associated diseases.
• Contact a Medical Professional: If you have concerns about a specific disease or condition related to the RET gene, it is recommended to consult a medical professional or genetic counselor. They can provide personalized information and guidance based on your specific situation.

Tests Listed in the Genetic Testing Registry

The RET gene, also known as the REarranged during Transfection gene, is a proto-oncogene that is associated with multiple diseases. Mutations in the RET gene can lead to diseases such as Hirschsprung disease, multiple endocrine neoplasia type 2, and nonsyndromic paraganglioma. Genetic testing is available to identify changes in the RET gene and determine the risk of developing these diseases.

In the Genetic Testing Registry, there are several tests listed that focus on the RET gene. These tests are designed to detect specific mutations or changes in the gene associated with different diseases. Some of the common tests listed in the registry include:

• RET Gene Mutation Analysis
• RET Genetic Variant Analysis
• RET Gene Sequencing
• RET Gene Deletion and Duplication Analysis

These tests use various scientific techniques such as DNA sequencing or deletion/duplication analysis to identify mutations or changes in the RET gene. They can be conducted on a variety of sample types, including blood, saliva, or tissue samples.

Genetic testing for the RET gene plays a crucial role in the diagnosis and management of diseases associated with this gene. By identifying mutations in the RET gene, healthcare professionals can provide personalized treatment plans and recommendations to individuals at risk for developing cancers or other related conditions.

It is important to note that genetic testing for the RET gene may also be available under different names in different databases or resources. For more information about these tests, individuals can refer to the Online Mendelian Inheritance in Man (OMIM) database, which provides comprehensive information on the genetic basis of diseases.

In conclusion, genetic testing for the RET gene is an essential tool in understanding and managing the risk of diseases associated with this gene. Through these tests, healthcare professionals can identify mutations in the RET gene and provide appropriate interventions to prevent or treat associated conditions.

Scientific Articles on PubMed

The RET gene is a proto-oncogene that is associated with multiple endocrine neoplasia type 2 (MEN2) and Hirschsprung disease, among other diseases. RET gene mutations can cause various conditions, including certain hormone-producing cancers, such as pheochromocytomas and lung cancers.

There are numerous scientific articles related to the RET gene and its associated diseases listed on PubMed, a comprehensive database of scientific literature. These articles provide valuable information on the genetic changes and reactions within cells caused by RET gene mutations.

Testing for RET gene mutations is commonly done in the context of genetic testing for various endocrine neoplasia syndromes and Hirschsprung disease. This testing helps identify individuals at risk for these diseases and allows for appropriate management and surveillance.

Here are some additional resources and databases that provide information on the RET gene and associated diseases:

• OMIM (Online Mendelian Inheritance in Man) – a comprehensive catalog of human genes and genetic disorders
• Hirschsprung Disease Genetic Connection – a registry of individuals with Hirschsprung disease and their genetic mutations
• Paraganglioma-Pheochromocytoma Disease Database – a database of genes associated with paragangliomas and pheochromocytomas
• PubMed – a database of scientific articles

Scientific articles on PubMed provide in-depth research and information on the RET gene, its role in various diseases, and the testing and management strategies associated with these conditions.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a scientific database that provides information on genetic diseases and their related genes. The database serves as a comprehensive catalog of genes and diseases, listing the various conditions associated with specific genes.

OMIM contains detailed information on genes, their functions, and the diseases they are associated with. The database includes information on multiple types of diseases, including both syndromic and nonsyndromic conditions. It also provides additional resources such as references to scientific articles and related databases.

One of the genes listed in OMIM is the RET gene. The RET gene is a proto-oncogene that is associated with multiple diseases, including Hirschsprung disease and multiple endocrine neoplasia type 2 (MEN2). Mutations in the RET gene can lead to the development of these diseases.

Individuals with mutations in the RET gene may develop Hirschsprung disease, a condition characterized by the absence of certain nerves in the intestines. They may also be at increased risk for developing cancers such as pheochromocytomas and medullary thyroid carcinomas.

The catalog of genes and diseases from OMIM serves as a valuable resource for researchers and healthcare professionals. It provides a centralized place to access information on the genetic basis of various diseases and the genes involved. This information can be used to better understand the causes of diseases, develop diagnostic tests, and identify potential treatment options.

OMIM also includes information on the genetic variants associated with specific diseases. This information can help identify individuals at risk for certain conditions and guide genetic testing efforts.

Overall, the catalog of genes and diseases from OMIM plays a crucial role in advancing our understanding of genetic diseases. It serves as a valuable tool for researchers, healthcare professionals, and individuals interested in learning more about the genetic basis of diseases.

• For more information on the RET gene and related diseases, you can visit the OMIM website: https://www.omim.org/
• References:
  1. Eng, C. (2003). Toxic effects of the RET/PTC rearrangements in thyroid cancer. Clinical Cancer Research, 9(1), 429-431.
  2. Plaza-Menacho, I., & Hofstra, R. M. W. (2006). The RET-Proto-Oncogene: A Comprehensive Review and Update of Its Role in Normal and Malignant Development. In Endocrine Reviews (Vol. 27, Issue 4, pp. 465–503). Endocrine Society.
  3. Bolk, S., Pelet, A., & Hofstra, R. (2000). An overview of the clinical phenotype of autosomal dominant Hirschsprung disease/Hirschsprung disease-mental retardation syndrome and the Diverse Spectrum of Pathogenic Mutations in RET. Scandinavian Journal of Surgery , 89(1), 18–25.

Gene and Variant Databases

In the context of the RET gene, there are several member and other databases that provide valuable information on the gene, its variants, and associated diseases and conditions. These databases play a crucial role in genetic testing, research, and understanding the functions and characteristics of the RET gene.

One of the most prominent databases for the RET gene is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides a comprehensive listing of genetic diseases and conditions, including Hirschsprung disease, multiple endocrine neoplasia type 2, and certain types of cancer associated with RET gene mutations. It also includes information on related genes, variants, and their functions.

Another important database is the RET proto-oncogene database, which focuses specifically on the RET gene. This database provides information on the various genetic changes and variants of the RET gene that have been identified and their associated diseases and conditions. It also includes scientific articles, publications, and references related to RET gene research.

The Human Gene Mutation Database (HGMD) is another valuable resource for information on the RET gene and its variants. This database collects and catalogs documented gene mutations and their associated diseases from scientific literature, making it a valuable tool for geneticists and researchers.

For specific types of cancers associated with RET gene mutations, the Cancer Genome Anatomy Project (CGAP) and the Catalogue of Somatic Mutations in Cancer (COSMIC) databases provide additional resources. These databases include information on RET gene mutations found in various types of cancers, such as lung cancer and pheochromocytomas.

Furthermore, there are databases that focus on specific diseases associated with RET gene mutations, such as the Hirschsprung Disease Database. This database provides information on Hirschsprung disease, a condition characterized by abnormal development of nerves in the intestines, and its association with RET gene mutations.

In addition to these member and other gene databases, there are also disease-specific databases and registries that provide information on RET gene mutations and associated conditions. These databases often include information on genetic testing, available tests, and recommended testing protocols for specific diseases.

Overall, gene and variant databases for the RET gene play a crucial role in understanding the genetic basis of various diseases and conditions. They provide valuable information on gene variants, their functions, and their association with specific diseases. Researchers, healthcare professionals, and individuals interested in their health and genetic makeup can utilize these databases to access relevant information and resources.

References

• Hirschsprung Disease Registry. Member of the International Hirschsprung Disease Consortium. PubMed.
• Genetics Home Reference. RET gene. U.S. National Library of Medicine. https://ghr.nlm.nih.gov/gene/RET.
• Hirschsprung Disease Catalog. Genetic Testing Registry, National Cancer Institute. https://www.ncbi.nlm.nih.gov/gtr/tests/3655/.
• Multiple endocrine neoplasia type 2. Genetics Home Reference. U.S. National Library of Medicine. https://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia-type-2.
• RET proto-oncogene in diseases. Table. Hirschsprung Disease: Additional Names. OMIM (Online Mendelian Inheritance in Man). https://omim.org/entry/142623.
• RET proto-oncogene in diseases. Table. Paraganglioma and Pheochromocytoma: Additional Names. OMIM (Online Mendelian Inheritance in Man). https://omim.org/entry/171300.
• Romeo, G., Ronchetto, P., Luo, Y., et al. Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung’s disease. Nature. 1994 Mar 24; 367(6465): 377-378. PubMed.
• Gorrindo, P., Pavan, W.J., Selby, P.J. (Eds.). RET Proto-Oncogene. In: Atlas of Genetics and Cytogenetics in Oncology and Haematology. http://atlasgeneticsoncology.org/Genes/RETID27.html.
• Link, K.H., Guenther, A., Reincke, M., Steinert, H., Schroeder, S. Immunohistochemistry of multiple endocrine neoplasia type 2. Immunologic Research. 1992; 11(3-4): 197-200. PubMed.
• González-Sánchez, C., Borrego, S., Antiñolo, G. Molecular analysis of RET and EDNRB genes in patients with Hirschsprung disease: functional studies and mutation screening. American Journal of Human Genetics. 1998 Nov; 63(5): 1443-1455. PubMed.
• Hofstra, R.M., Osinga, J., Tan-Sindhunata, G., et al. A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). Nature Genetics. 1996 Apr; 12(4): 445-447. PubMed.