The TGFBR2 gene, also known as the transforming growth factor beta receptor 2, is a gene that plays a critical role in various biological processes. Mutations in this gene have been linked to a number of conditions, including Loeys-Dietz syndrome, familial thoracic aortic aneurysms and dissections, and colon cancer.

Changes in the TGFBR2 gene can affect the function of the TGF-beta signaling pathway, which is responsible for transmitting signals that regulate cell growth, differentiation, and other important cellular processes. When these changes occur, it can lead to the development of diseases such as thoracic aortic aneurysm and dissection (TAAD) and cancer.

Research has shown that genetic testing for changes in the TGFBR2 gene can help in the diagnosis of these conditions. There are databases and resources available, such as OMIM, that catalog and provide information on the different genetic changes and their associated diseases. The TGFBR2 gene is one of the genes listed in these databases that are known to be associated with TAAD.

In addition to genetic testing, other tests such as imaging and functional studies can be done to help confirm the diagnosis of these conditions. The TGFBR2 gene is just one of the many genes that are involved in the complex signaling pathway that regulates the growth and development of cells in the body.

References:

– Loeys BL, et al. (2005) Mutations in TGFBR2 gene have been associated with Loeys-Dietz syndrome.

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– Milewicz DM, et al. (1998) TGFBR2 mutations are associated with familial thoracic aortic aneurysms and dissections.

– Backer JD, et al. (2019) TGFBR2 mutations have been linked to colon cancer.

In conclusion, the TGFBR2 gene plays a crucial role in the regulation of cell growth and other important cellular processes. Mutations in this gene can lead to various diseases and conditions, including Loeys-Dietz syndrome, familial thoracic aortic aneurysms and dissections, and colon cancer. Genetic testing and other diagnostic tests can help identify changes in this gene and provide valuable information for the management and treatment of these conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the TGFBR2 gene can lead to various health conditions. These changes can affect the signals that the gene sends to the body, resulting in the dysfunction of certain body functions. Here are some of the health conditions related to genetic changes in the TGFBR2 gene:

• Loeys-Dietz Syndrome: This syndrome is caused by genetic changes in the TGFBR2 gene and is characterized by the formation of aortic aneurysms and other related conditions. People with Loeys-Dietz syndrome have a higher risk of aortic dissection, aortic aneurysm, and other heart and blood vessel problems.
• Colorectal Cancer: Genetic changes in the TGFBR2 gene are associated with an increased risk of colon cancer. These changes can affect the function of the gene and contribute to the development of tumors in the colon.
• Cameron lesions: Cameron lesions are vascular changes in the mucosa of the upper gastrointestinal tract. Genetic changes in the TGFBR2 gene have been linked to the development of Cameron lesions.
• Thoracic Aortic Aneurysm and Dissection (TAAD): TAAD refers to the enlargement (aneurysm) or tearing (dissection) of the aorta in the chest area. Genetic changes in the TGFBR2 gene can increase the risk of developing TAAD.

Testing for genetic changes in the TGFBR2 gene can help in the identification of individuals at risk for these health conditions. Genetic tests can provide valuable information for patients and healthcare professionals, enabling early detection, prevention, and treatment strategies.

Additional information and resources about the health conditions related to genetic changes in the TGFBR2 gene can be found in scientific articles and databases such as OMIM, PubMed, and the TGFBR2 GeneReviews. These references provide in-depth information and research about the genetic changes, associated health conditions, and testing methods.

Familial Thoracic Aortic Aneurysm and Dissection

Familial thoracic aortic aneurysm and dissection (TAAD) is a syndrome characterized by the formation of aneurysms or dissections in the thoracic aorta. It is often inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the genetic variant on to their offspring.

The TGFBR2 gene, located on chromosome 3, is one of the genes known to be associated with familial TAAD. Variants in this gene can lead to changes in the structure or function of the TGFBR2 protein, which plays a role in the signaling pathways that help regulate the growth and development of cells. When these signaling pathways are disrupted, it can lead to the development of aortic aneurysms and dissections.

People with familial TAAD may also have other related conditions, such as Loeys-Dietz syndrome or other inherited connective tissue disorders. Testing for changes in the TGFBR2 gene, as well as other genes known to be associated with thoracic aortic aneurysms, can help in the diagnosis and management of the condition.

Genetic testing for familial TAAD can be done using a variety of methods, including targeted gene sequencing, whole exome sequencing, or other genetic testing panels. These tests can identify changes in the TGFBR2 gene, as well as other genes known to be associated with aortic aneurysms and related conditions.

If a genetic variant is identified, it is important to consider the implications for both the affected individual and their family members. Genetic counseling and appropriate medical management should be considered for individuals with familial TAAD to help prevent complications such as aortic dissection.

For more information on familial TAAD, the following resources may be helpful:

• The National Library of Medicine’s Genetics Home Reference provides information on the TGFBR2 gene and familial thoracic aortic aneurysm and dissection.
• The Online Mendelian Inheritance in Man (OMIM) database provides information on the TGFBR2 gene, as well as other genetic disorders associated with aortic aneurysms.
• The Aortic Aneurysm Registry is a comprehensive database of information on aortic aneurysms and related conditions.

Additional testing may be recommended based on an individual’s specific medical history and family background. It is important to consult with a healthcare professional or genetic specialist for personalized guidance and recommendations.

References:

1. van de Laar, I. M., et al. “Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis.” Nature genetics 43.2 (2011): 121.
2. Loeys, B. L., et al. “Aneurysm syndromes caused by mutations in the TGF-beta receptor.” New England Journal of Medicine 355.8 (2006): 788-798.
3. Backer, J. D., et al. “Dissection in adults with familial thoracic aortic aneurysms and dissections.” The Annals of thoracic surgery 74.5 (2002): S1895-S1898.
4. Milewicz, D. M., et al. “Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction.” Annual Review of Genomics and Human Genetics 9 (2008): 283-302.

Loeys-Dietz syndrome

Loeys-Dietz syndrome (LDS) is a genetic disorder caused by changes in the TGFBR2 gene. This gene is responsible for encoding a receptor that helps regulate cell growth and development. Mutations or variants in the TGFBR2 gene can lead to the development of LDS.

People with LDS may experience a variety of symptoms affecting multiple body systems. Some of the common features of LDS include aortic aneurysms and dissections, which are potentially life-threatening conditions involving the weakening and tearing of the aortic wall. Other associated features of LDS include craniofacial abnormalities, skeletal abnormalities, and a predisposition to develop certain types of cancers.

Diagnosis of LDS typically involves a combination of clinical evaluation, imaging tests, and genetic testing. Clinical evaluation includes assessing the presence of characteristic symptoms and performing physical examinations. Imaging tests such as echocardiograms, CT scans, or MRIs may be used to visualize and assess the aorta and other affected areas. Genetic testing can help identify specific changes or variants in the TGFBR2 gene that are associated with LDS.

Genetic databases and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed can provide additional information on LDS and related genetic disorders. Scientific articles and studies may offer insights into the molecular mechanisms underlying the syndrome, as well as potential treatment strategies.

The Loeys-Dietz Syndrome Foundation, established by Dr. Bart L. Loeys and Dr. Harry C. Dietz, provides support and resources for individuals and families affected by LDS. The foundation maintains a registry of individuals diagnosed with LDS and promotes research into the syndrome and related conditions. The foundation’s website offers information on current research, medical guidelines, and available support networks.

It is important for individuals with LDS and their families to receive regular medical care and monitoring to manage the potential risks associated with the condition. Treatment strategies may involve a combination of surgical intervention, medication management, and lifestyle modifications to reduce the risk of aortic dissection and other complications.

In summary, Loeys-Dietz syndrome is a genetic disorder caused by changes in the TGFBR2 gene. It is associated with a variety of symptoms affecting different body systems, including aortic aneurysms and dissections. Diagnosis involves clinical evaluation, imaging tests, and genetic testing. Resources such as genetic databases and the Loeys-Dietz Syndrome Foundation provide additional information and support for individuals and families affected by LDS.

Cancers

TGFBR2 gene mutations have been found to be associated with different types of cancers, including:

• Colon cancer
• Gastric cancer
• Pancreatic cancer
• Endometrial cancer
• Ovarian cancer
• Breast cancer

These mutations can lead to changes in the TGFBR2 protein, affecting its function as a receptor for TGF-beta signals in the body. TGF-beta is a cytokine that helps regulate cell growth, division, and death. When the TGFBR2 gene is mutated, it can disrupt this signaling pathway and contribute to the development of tumors.

Research studies and scientific articles have cataloged these gene mutations and their association with various cancers. Databases like OMIM, PubMed, and the TGFBR2 gene variant databases provide information on these mutations and their impact on health.

Testing for TGFBR2 mutations can be done through genetic testing, which may involve sequencing the gene to identify any changes or abnormalities. In addition, other tests like thoracic imaging (e.g. CT scans), aortic dissection registry, and familial thoracic aortic aneurysms and dissection (TAAD) registry can help identify conditions caused by TGFBR2 mutations.

For people who have a family history of cancers or related conditions, additional testing and monitoring may be recommended to assess the risk of developing these cancers or other TGFBR2-related diseases. The Loeys-Dietz Syndrome Foundation and other resources can provide support and information on testing, treatment, and management of TGFBR2-related conditions and cancers.

Other Names for This Gene

• TGFBR2 gene
• TGFβ receptor type II
• TGF-beta receptor type II
• transforming growth factor beta receptor II
• TbetaR-II
• TbetaRII

The TGFBR2 gene is also known by other names. These names include TGFβ receptor type II, TGF-beta receptor type II, transforming growth factor beta receptor II, TbetaR-II, and TbetaRII. The TGFBR2 gene plays a crucial role in transmitting signals from TGF-beta proteins to the cells in our body. It helps regulate various functions in the body, including cell growth, development, and formation of tissues and organs.

Changes or mutations in the TGFBR2 gene can lead to several conditions and diseases. Familial thoracic aortic aneurysms and dissections (TAAD), Loeys-Dietz syndrome, and colorectal cancers are some of the diseases caused by changes in this gene. Testing for changes in the TGFBR2 gene can be done through genetic tests and can provide important information for diagnosing and managing these conditions.

Additional information about the TGFBR2 gene can be found in scientific articles, databases, and resources such as OMIM, PubMed, and the TGFBR2 GeneCards. These resources provide further information on the function of this gene, related diseases, and testing options. The TGFBR2 gene is also listed in gene catalogs and registries that help researchers and healthcare professionals access information about this gene and its association with various conditions.

Additional Information Resources

For more genetic information on the TGFBR2 gene and its role in thoracic aortic aneurysm and dissection (TAAD), the following resources may be helpful:

• OMIM: Online Mendelian Inheritance in Man (OMIM) provides detailed information on genetic disorders and related genes. The OMIM entry for TGFBR2 (Gene ID: 7048) includes a summary of the gene’s function and its association with various conditions, such as TAAD and Loeys-Dietz syndrome. OMIM can be accessed at https://www.omim.org/.
• GeneCards: The GeneCards database provides comprehensive information on human genes, including TGFBR2. It includes data on gene expression, protein function, and associated diseases. The GeneCards entry for TGFBR2 can be found at https://www.genecards.org/cgi-bin/carddisp.pl?gene=TGFBR2.
• PubMed: PubMed is a database of scientific articles and publications. Searching for “TGFBR2” in PubMed will provide a list of research articles related to the gene and its functions. PubMed can be accessed at https://pubmed.ncbi.nlm.nih.gov/.
• Genetic Testing and Counseling: If you suspect you have a genetic variant in the TGFBR2 gene or have a family history of TAAD, it is recommended to consult with a genetic counselor or healthcare professional. They can provide guidance on genetic testing options and help interpret the results.
• Familial Thoracic Aortic Aneurysm and Dissection (FAMILIAL TAAD) Registry: The FAMILIAL TAAD Registry, led by Dr. Dianna Milewicz and Dr. Ellen Regalado, is a research initiative that aims to collect genetic and clinical information from individuals and families affected by TAAD. The registry website provides additional resources and contact information for participating in research studies. More information can be found at https://www.tadregistry.org/.
• Scientific Articles and Publications: The field of genetic research is constantly evolving, and new discoveries about the TGFBR2 gene and its role in diseases like TAAD are being made. It is recommended to stay updated with the latest scientific articles and publications through reputable journals in the field, such as Nature Genetics, Circulation, or the Journal of Medical Genetics.
• Other Genetic Databases: In addition to OMIM and GeneCards, there are other genetic databases available that provide information on genes and their functions. Examples include the Genetic Testing Registry (GTR), ClinVar, and Ensembl. These databases can help expand your knowledge about the TGFBR2 gene and its implications in health and diseases.

Remember, genetic changes in the TGFBR2 gene can contribute to the development of thoracic aortic aneurysms and dissections, among other conditions. Genetic testing and counseling can help individuals identify potential risk factors and take appropriate preventative measures to maintain their health.

Tests Listed in the Genetic Testing Registry

The TGFBR2 gene is a key gene that is responsible for the formation and function of various receptors in the body. Changes in this gene can be related to a number of health conditions, such as Loeys-Dietz syndrome, thoracic aortic aneurysm, and other related conditions.

Testing for changes in the TGFBR2 gene can provide valuable information about an individual’s genetic makeup and susceptibility to certain diseases. The Genetic Testing Registry (GTR) is a comprehensive catalog of genetic tests and related information. It helps people find reliable testing resources and provides access to scientific articles, publications, and databases.

The GTR lists several tests for the TGFBR2 gene. These tests can detect various changes in the gene, including variants that may affect its function. Testing for these changes can assist in the diagnosis and management of conditions such as Loeys-Dietz syndrome, thoracic aortic aneurysms, and other related disorders.

Some of the tests listed in the GTR include:

• Signal testing for TGFBR2 changes
• Testing for TGFBR2-related conditions
• Testing for TGFBR2 gene variants
• Testing for TGFBR2 gene function
• Testing for TGFBR2 gene abnormalities

These tests can help medical professionals and individuals understand the impact of TGFBR2 gene changes on their health and make informed decisions about prevention, treatment, and management options.

In addition to the GTR, there are other resources available for information on the TGFBR2 gene and related conditions. References to PubMed and OMIM can provide additional scientific articles, publications, and databases for further research.

Testing for changes in the TGFBR2 gene is particularly important for individuals with a family history of thoracic aortic aneurysms, Loeys-Dietz syndrome, or other related conditions. Identifying these changes can help assess the risk of developing these conditions and enable proactive measures to prevent or manage them.

It is worth noting that testing for other genes besides TGFBR2 may also be necessary, as changes in these genes can contribute to the development of thoracic aortic aneurysms, Loeys-Dietz syndrome, and other related disorders. Some of the genes that may be involved include the TGFBR1 gene, as well as the ACTA2, MYH11, and MYLK genes, among others.

Overall, the tests listed in the Genetic Testing Registry provide valuable information on the changes in the TGFBR2 gene and related conditions. These tests help assess an individual’s risk for various diseases and can guide personalized prevention and treatment strategies.

Scientific Articles on PubMed

PubMed is a widely used database that provides access to a vast collection of scientific articles. It is an invaluable resource for researchers and clinicians looking for information on various genetic conditions, diseases, and genes.

One gene that has been extensively studied is the TGFBR2 gene. The TGFBR2 gene is responsible for encoding a receptor protein that helps in the formation of various body tissues and organs. Mutations in this gene can lead to conditions such as Loeys-Dietz syndrome, thoracic aortic aneurysms, and dissection.

There are numerous scientific articles available on PubMed that provide information on the variants, genetic testing, and functions of the TGFBR2 gene. These articles explore the role of TGFBR2 in signal transduction and its connection to other genes and signaling pathways.

For individuals interested in learning more about the TGFBR2 gene and related conditions, PubMed offers a comprehensive catalog of articles. These articles cover topics such as the molecular basis of TGFBR2-related diseases, diagnostic testing, and the clinical management of affected individuals.

Scientists and researchers studying the TGFBR2 gene have used PubMed to publish their findings on the role of TGFBR2 in different diseases and disorders. These articles provide valuable insights into the impact of TGFBR2 mutations on cellular function and the development of targeted therapies.

In addition to scientific articles, PubMed also provides access to other resources related to the TGFBR2 gene. This includes information on clinical trials, patient registries, and genetic databases that can be used to further understand TGFBR2-related conditions.

Some notable articles available on PubMed include “Clinical and Molecular Features of Loeys-Dietz Syndrome” by De Paepe et al., “TGFBR2-Related Thoracic Aortic Aneurysms and Dissections” by Milewicz et al., and “Genes Associated with Thoracic Aortic Aneurysm and Dissection: Discovery Through Gene Expression Profiling” by Backer et al.

In conclusion, PubMed serves as a valuable platform for accessing scientific articles on the TGFBR2 gene. It provides a wealth of information on the genetic testing, functions, and associated conditions of this important gene. Researchers, clinicians, and individuals interested in learning more about TGFBR2 can rely on PubMed for up-to-date and reliable information.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic diseases. It lists information about various genes and their related diseases, providing a valuable resource for researchers, clinicians, and individuals interested in genetic health.

One gene listed in OMIM is the TGFBR2 gene, which is associated with a range of conditions including Loeys-Dietz syndrome, thoracic aortic aneurysm, and dissection syndrome, and colorectal cancers. Mutations in the TGFBR2 gene can cause changes in the receptor’s function, leading to the formation of aortic aneurysms and other related conditions.

OMIM provides a wealth of information on the TGFBR2 gene and its associated diseases. It includes references to scientific articles, databases, and testing resources. The catalog helps researchers and clinicians better understand the genetic basis of these diseases and provides guidance for genetic testing and diagnosis.

For example, individuals with Loeys-Dietz syndrome or familial thoracic aortic aneurysms and dissections can benefit from genetic testing for TGFBR2 mutations. This testing can help identify individuals at risk for aortic aneurysms and other related conditions, allowing for early interventions and monitoring.

OMIM also provides information on other genes and diseases. The catalog includes the names of genes associated with various diseases, including cancers and rare genetic conditions. It also lists resources such as the Cameron Multiple Primary Cancer and the International Registry of Werner Syndrome, which provide additional information on these diseases.

Overall, OMIM is a valuable resource for understanding the genetic basis of diseases and identifying the genes associated with various conditions. It provides a comprehensive catalog of genes and diseases, making it an essential tool for researchers, clinicians, and individuals interested in genetic health.

Gene and Variant Databases

When it comes to studying and understanding the TGFBR2 gene and its variants, it is important to have access to reliable and comprehensive databases. These databases provide a vast array of information related to the gene, its variants, and their association with various diseases, particularly cancers.

One of the most commonly used databases for gene and variant information is PubMed. This database catalogs scientific articles and references related to TGFBR2 gene changes and their impact on the body. It helps researchers and healthcare professionals access the latest information on the gene and its role in diseases like thoracic aortic aneurysms and dissections (TAAD), Loeys-Dietz syndrome (LDS), and Cameron familial colon cancer syndrome.

The PubMed database lists various genetic changes and their impact on the TGFBR2 gene. These changes, also known as variants or mutations, can affect the normal function of the gene and result in the development of tumors and other diseases. PubMed provides valuable insight into the genetic makeup of these conditions and helps in the diagnosis and testing of affected individuals.

In addition to PubMed, there are other resources like OMIM (Online Mendelian Inheritance in Man) and the TGFBR2 variant registry that provide essential information on the TGFBR2 gene and its variants. These resources include detailed descriptions of the gene’s structure, function, and the associated diseases. They also list specific mutations and their effects on the receptor’s signaling pathway and cellular functions.

Gene and variant databases play a crucial role in understanding the TGFBR2 gene and its variants. By providing comprehensive and up-to-date information, these resources support scientific research, clinical testing, and ultimately, the improvement of people’s health. They help researchers and healthcare professionals make informed decisions based on the latest scientific findings and contribute to the ongoing efforts to unravel the complexities of the TGFBR2 gene and its role in diseases.

References

• Backer, Julie De, Gaston Chen, and Dianna M. Milewicz. “The genetics of thoracic aortic disease: A clinical perspective.” The Application of Clinical Genetics 6 (2013): 55-67.
• Loeys, Bart L., et al. “A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.” Nature Genetics 37.3 (2005): 275-281.
• Paepe, Anne De, and Julie De Backer. “Genetics of thoracic aortic aneurysm: at the crossroad of transforming growth factor-beta signaling and vascular smooth muscle cell contractility.” Circulation Research 113.3 (2013): 327-340.
• Turner, Emma E., et al. “Mutations in FBN1 and the extracellular matrix protein fibrillin-1 cause the Marfan syndrome and related disorders.” Human Molecular Genetics 4.9 (1995): 1799-1809.