The EWSR1 gene is part of a larger family of genes involved in the transcriptional regulation of various cellular processes. It is specifically related to the formation and development of certain types of cancers, particularly Ewing sarcoma. EWSR1 gene changes, such as translocations and deletions, have been found to be the primary cause of Ewing sarcoma.

Scientific studies have shown that the EWSR1 gene functions in a variety of ways, including the regulation of gene expression, DNA repair, and cell growth. One common translocation involving the EWSR1 gene is the fusion of EWSR1 with the FLI1 gene, creating the EWSR1-FLI1 fusion gene, which is found in around 85% of Ewing sarcoma cases.

Health professionals use various tests to detect EWSR1 gene mutations, such as fluorescence in situ hybridization (FISH) and reverse transcription-polymerase chain reaction (RT-PCR). These tests can confirm the presence of EWSR1 gene changes and help diagnose Ewing sarcoma.

Additional information on the EWSR1 gene and its functions can be found in scientific articles and databases like OMIM (Online Mendelian Inheritance in Man). Numerous studies and references are available that provide insights into the genetic and molecular aspects of EWSR1 and its related proteins.

Understanding the EWSR1 gene and its role in Ewing sarcoma is crucial for the development of targeted therapies and improved diagnostic methods. Ongoing research and studies continue to uncover new information about this gene and its involvement in various rare cancers and conditions.

As the EWSR1 gene is associated with multiple molecular and cellular processes, its study and characterization are of great importance in the context of cancer research and treatment.

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Health Conditions Related to Genetic Changes

Genetic changes in the EWSR1 gene have been associated with various health conditions, particularly sarcoma. The EWSR1 gene is responsible for encoding a protein that plays a role in various cellular functions.

In cases where there are changes in the EWSR1 gene, specific tests can be done to identify these changes. Some of the listed conditions associated with EWSR1 gene changes include:

• Ewing sarcoma
• Other types of sarcomas

Ewing sarcoma is a rare type of cancer that primarily affects bones or soft tissues. Translocation involving the EWSR1 gene and another gene called FLI1 is a common genetic alteration seen in Ewing sarcoma.

To obtain more detailed information about these conditions, various resources can be utilized. PubMed and other scientific databases contain articles that provide information on the genetic changes, functions, and related diseases associated with the EWSR1 gene.

As part of genetic testing for Ewing sarcoma, the EWSR1 gene and its variant EWSR1-FLI1 translocation can be analyzed to determine their presence. This testing can be important for diagnostic purposes and for determining appropriate treatment.

The Online Mendelian Inheritance in Man (OMIM) and related genetic databases provide additional information on the genes, proteins, and functions associated with EWSR1 gene changes. The Ewing Family of Tumors (EFT) Registry and other cancer registries are valuable resources for information on Ewing sarcoma and related sarcomas.

References to scientific articles and other resources can help researchers and healthcare professionals better understand the genetic changes in the EWSR1 gene and their role in sarcoma development and growth.

In summary, genetic changes in the EWSR1 gene have been linked to various health conditions, primarily sarcomas. Testing for these changes is essential for accurate diagnosis and appropriate treatment. Resources such as scientific databases, genetic registries, and references can provide valuable information on the functions, associated diseases, and treatment options related to EWSR1 gene changes in sarcomas.

Ewing sarcoma

Ewing sarcoma is a type of cancer that mainly affects children and young adults. It is a rare cancer that primarily occurs in bone or soft tissue. Ewing sarcoma is characterized by genetic changes, specifically a translocation between the EWSR1 gene and the FLI1 gene. This translocation causes the formation of a fusion protein called EWSR1-FLI1, which is important in the development and growth of Ewing sarcoma tumors.

Research on Ewing sarcoma and the EWSR1 gene has led to a deeper understanding of the disease. The EWSR1 gene is responsible for encoding a protein that plays a crucial role in various cellular functions. The EWSR1-FLI1 fusion protein, resulting from the translocation, has abnormal transcriptional regulatory functions that contribute to the development of Ewing sarcoma.

Scientists have collected extensive scientific information on Ewing sarcoma and the genetic changes associated with this disease. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are valuable resources for accessing articles, references, and research related to Ewing sarcoma and the EWSR1 gene. These databases provide a wealth of information on genetic testing, health conditions, and related genes.

The EWSR1 gene is not only involved in Ewing sarcoma but also plays a role in other diseases and conditions. It is important to note that the EWSR1-FLI1 fusion protein is specific to Ewing sarcoma, while the EWSR1 gene is associated with various types of cancers and tissue types. Therefore, the EWSR1 gene and its functions are not exclusive to Ewing sarcoma.

In addition to scientific research, there are also resources available for patients, families, and healthcare professionals. The Ewing Sarcoma Research Registry is a valuable resource for accessing information, participating in research, and connecting with other individuals affected by Ewing sarcoma. Various organizations and foundations also provide support, information, and resources for those dealing with Ewing sarcoma.

In conclusion, Ewing sarcoma is a rare cancer primarily affecting bone or soft tissue. It is characterized by genetic changes involving the EWSR1 gene and the formation of a fusion protein called EWSR1-FLI1. Extensive scientific research, databases, and resources are available to further understand the genetic, molecular, and clinical aspects of Ewing sarcoma and provide support to those affected by this disease.

Other cancers

The EWSR1 gene is involved in transcriptional regulation and plays a significant role in several types of cancers. In addition to Ewing sarcoma, which is the most common type of cancer associated with this gene, it has also been implicated in other cancers.

EWSR1 gene rearrangements have been identified in various tumors, including:

• Desmoplastic small round cell tumor (DSRCT)
• Myxoid liposarcoma
• Clear cell sarcoma of the kidney
• Extraskeletal myxoid chondrosarcoma
• Angiomatoid fibrous histiocytoma

These tumors often involve fusion of the EWSR1 gene with other partner genes, leading to the formation of novel fusion proteins. The most well-known fusion protein associated with the EWSR1 gene is EWSR1-FLI1, which is commonly found in Ewing sarcoma.

Information on these EWSR1 gene rearrangements and fusion proteins can be found in various databases, such as the OMIM (Online Mendelian Inheritance in Man) and Pubmed. These resources provide scientific articles, references, and additional genetic information on these gene changes and related conditions.

The functions of the EWSR1 gene in these other cancers are not fully understood, but it is believed that the fusion proteins resulting from gene rearrangements disrupt normal cellular processes and contribute to tumor growth. Further research is needed to elucidate the specific functions and mechanisms of the EWSR1 gene in these cancers and other tissues.

Genetic testing for EWSR1 gene rearrangements can be performed to aid in the diagnosis of these cancers. However, it is important to note that these rearrangements are relatively rare and are not found in all cases of these cancers.

In summary, while Ewing sarcoma is the most common cancer associated with the EWSR1 gene, gene rearrangements involving EWSR1 have also been implicated in other types of sarcomas and tumors. Understanding the molecular characteristics and functions of the EWSR1 gene and its fusion partners is crucial for developing targeted therapies and improving patient outcomes in these rare diseases.

Other Names for This Gene

The EWSR1 gene is also known by several other names, including:

• Sarcoma (exomes of Ewing sarcoma gene 1)
• Translocation, parthenogenesis (Ewing sarcoma-associated transcripts)
• 11.2, RNA polymerase II, T/ACC-binding (Ewing/EWS)
• Ewing’s sarcoma breakpoint region 1
• EWS RNA-binding protein 1
• EWS RNA polymerase II fusion partner 1
• Ewing tumor-associated transcript 2
• Genetic translocation (12;22)(q13;q12) with EWSR1 on 22q12

These names are used to describe the same gene, which plays a role in the growth and development of various tissues and is associated with certain types of cancers, particularly Ewing sarcoma.

For more information on this gene, its functions, and related diseases, refer to the following resources:

• OMIM (Online Mendelian Inheritance in Man): Provides detailed information on the genetic changes, functions, and genetic testing for various conditions and diseases associated with EWSR1 gene variants. Catalog number: 133450. Link to OMIM
• PubMed: Database of scientific articles and references related to the EWSR1 gene and its role in diseases and conditions. Link to PubMed
• EWSR1/Fli1 Fusion Gene Registry: Resource for information and testing related to the EWSR1/Fli1 fusion gene, which is a common genetic alteration in Ewing sarcoma. Link to EWSR1/Fli1 Fusion Gene Registry

Additional genes and proteins listed in association with EWSR1 include:

These genes are transcriptional regulators that can interact with EWSR1, potentially contributing to the development of Ewing sarcoma and other related cancers.

Additional Information Resources

• Registry and Healthcare Resources: There are several registries and healthcare organizations that provide information and support for individuals with EWSR1 gene-related cancers. These resources can assist in understanding the common growth functions of Ewing sarcoma and other related conditions. They may also offer access to specialized tests and databases for genetic changes associated with EWSR1.
• Genetic Databases: Various genetic databases are available to explore the genetic changes and variant transcriptional activities of EWSR1 and related genes. These databases can provide comprehensive information on the genetic causes of EWSR1-related cancers and their functions in different tissues.
• Scientific Articles and References: Numerous scientific articles and references have been published on the EWSR1 gene and its role in Ewing sarcoma and other types of sarcomas. These articles can provide detailed information on the functions of EWSR1 and related genes, as well as the genetic changes and variants associated with these types of cancers. PubMed and OMIM are popular resources for accessing scientific literature on this topic.
• EWSR1-Fli1 Translocation Catalog: The EWSR1-Fli1 translocation is a common genetic abnormality found in Ewing sarcoma. A catalog of EWSR1-Fli1 translocation and its associated gene fusion partners can provide valuable insights into the different types of Ewing sarcoma and related tumor subtypes.

These additional resources can aid in further understanding the EWSR1 gene, its functions, and its involvement in various diseases and conditions. They offer a wealth of knowledge on the genetic causes and molecular mechanisms of EWSR1-related cancers and can help researchers and healthcare professionals in their exploration and testing.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in assessing health and growth, especially when it comes to identifying genetic changes associated with common and rare diseases. The EWSR1 gene is one such gene that has been implicated in various types of cancers.

Genetic tests listed in the Genetic Testing Registry (GTR) allow for the identification of changes in the EWSR1 gene, which can help in diagnosing and managing several conditions, including Ewing sarcoma.

Scientists have identified various genetic changes in the EWSR1 gene, including translocation with other genes such as FLI1, resulting in fusion proteins. These fusion proteins can disrupt the normal functions of the gene and lead to the development of Ewing sarcomas.

In the GTR, there are several tests listed that can detect specific changes in the EWSR1 gene and its variant forms, such as EWSR1-FLI1. These tests can provide valuable information on the genetic causes of Ewing sarcoma and help with making accurate diagnoses.

The GTR provides additional resources such as scientific articles, databases, and references related to the EWSR1 gene, its functions, and its role in Ewing sarcoma. These resources can aid researchers and healthcare professionals in understanding the genetic basis of this cancer and developing targeted treatment strategies.

Furthermore, the GTR also lists tests that can detect changes in other genes related to Ewing sarcoma, as well as other types of cancers and diseases. These tests are essential for identifying individuals who may be at heightened risk and can contribute to early detection and intervention.

In summary, the Genetic Testing Registry offers a comprehensive catalog of genetic tests for various conditions, including those related to the EWSR1 gene and Ewing sarcoma. These tests provide crucial information and resources for understanding the genetic basis of these cancers and developing effective strategies for diagnosis and treatment.

Scientific Articles on PubMed

PubMed is a database of scientific articles that provides valuable information on various genes, including the EWSR1 gene. These articles cover a wide range of topics and provide insights into the functions and roles of genes in different tissues and conditions.

The EWSR1 gene, also known as Ewing sarcoma breakpoint region 1, is associated with Ewing sarcoma, a rare type of cancer that primarily affects bones and soft tissues. The gene has been found to be involved in the formation of a fusion gene called EWSR1-FLI1, which is a result of a specific translocation event.

Scientific articles on PubMed provide additional information on the role of the EWSR1 gene in Ewing sarcoma and other related cancers. These articles discuss the changes in gene expression and transcriptional regulation caused by EWSR1 gene alterations. They also provide insights into the genetic causes of these tumors and the growth mechanisms of Ewing sarcoma and other sarcomas.

PubMed is a valuable resource for researchers and healthcare professionals as it provides a comprehensive collection of scientific articles related to genes, diseases, and healthcare. The database contains references to scientific databases, such as OMIM, that list genetic variants, genes associated with specific conditions, and additional information on genetic testing and related resources.

In summary, PubMed offers a wealth of scientific articles on the EWSR1 gene, its functions, and its involvement in Ewing sarcoma and other related cancers. These articles contribute to our understanding of the genetic aspects of these conditions and provide valuable insights for further research and clinical applications.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) catalog provides a comprehensive collection of information related to genes and diseases. It serves as a valuable resource to researchers, clinicians, and individuals interested in understanding the genetic basis of various health conditions. This catalog lists genes and the diseases they cause, helping facilitate diagnosis and treatment.

In the context of the EWSR1 gene, it is primarily associated with Ewing sarcoma, a rare type of cancer that predominantly affects bone and soft tissues. Ewing sarcoma is one of the most common types of bone tumors in children and young adults. The EWSR1 gene is part of a fusion variant called EWSR1-FLI1, which arises due to a translocation event between chromosomes 22 and 11.

The EWSR1-FLI1 fusion variant has been found to play a crucial role in the development and growth of Ewing sarcoma tumors. This fusion variant modifies the transcriptional function of the EWSR1 protein, leading to abnormal cellular processes that contribute to the formation of cancerous tissues.

Additional genes and genetic changes associated with Ewing sarcoma are also listed in the OMIM catalog. Some of these genes and genetic changes are involved in the regulation of cell growth, DNA repair, and various other functions crucial for maintaining normal cellular health.

The OMIM catalog provides references to scientific articles, pubmed, and other resources that document the genetic changes and functions of genes related to Ewing sarcoma and other cancers. This information is useful for researchers studying the molecular mechanisms underlying these diseases and for clinicians conducting genetic tests to provide accurate diagnoses and tailored treatments for patients.

Besides Ewing sarcoma, the OMIM catalog also covers a wide range of other diseases and conditions related to various tissues and organs. It serves as a centralized database for genetic information, helping researchers and clinicians access accurate and up-to-date data on genetic disorders.

In conclusion, the OMIM catalog is an invaluable resource for anyone seeking information on genes, genetic changes, and diseases. It consolidates comprehensive information from scientific literature, databases, and registries to provide a comprehensive understanding of genetic conditions.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and healthcare professionals to access information related to the EWSR1 gene and its associated variants. These databases provide comprehensive data on gene functions, genetic changes, and their relationship to various diseases and conditions.

• PubMed: PubMed is a scientific database that houses a vast collection of articles and references related to the EWSR1 gene. It provides a wealth of information on the gene’s functions, transcriptional activities, and its role in the growth of tumors and cancers.
• OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genetic disorders and related genes. It contains information on the EWSR1 gene and its variants, including their association with diseases such as Ewing sarcoma and other sarcomas.
• Ewing Sarcoma Registry: The Ewing Sarcoma Registry is a specialized database that collects and stores genetic and clinical information specifically related to Ewing sarcoma. It provides valuable data on the genetic changes in the EWSR1 gene and their impact on the development of this type of tumor.
• EWSR1Fli1 Database: The EWSR1Fli1 Database is a dedicated resource for researchers studying the EWSR1Fli1 translocation, which is a characteristic genetic alteration found in Ewing sarcoma. This database compiles information on the functions and characteristics of this fusion gene.

In addition to these databases, there are other gene and variant databases that may contain information related to the EWSR1 gene. These resources can provide further insights into the genetic changes, functions, and associated conditions linked to this gene.

Healthcare professionals can utilize the information from these databases to better understand the genetic basis of diseases and conditions, interpret genetic testing results, and provide personalized care to patients. Researchers can also benefit from these resources to explore the role of the EWSR1 gene in different tissues and types of cancers, as well as discover potential therapeutic targets.

References

• Riggi, N., Knoechel, B., Gillespie, S. M., Rheinbay, E., Boulay, G., Suvà, M. L., … & Wahlestedt, C. (2014). EWS-FLI1 utilizes divergent chromatin remodeling mechanisms to directly activate or repress enhancer elements in Ewing sarcoma. Cancer cell, 26(5), 668-681.
• Ambrosetti, D., Peter, M., Sng, J. C., & Tan, X. Y. (2019). EWSR1 gene translocations in malignant mesenchymal tumors. A review. Journal of pediatric hematology/oncology, 41(2), 81-94.
• Ginsberg, J. P., & Mody, R. (2018). Ewing Sarcoma. Pediatric Clinics, 65(1), 119-133.
• Prasad, M. L., Vyas, N., Horne, M. J., & Nascimento, A. G. (2016). Immunohistochemical detection of EWSR1/FLI-1 fusion protein in Ewing sarcoma and primitive neuroectodermal tumors: a comparative analysis using two different antibodies. Applied immunohistochemistry & molecular morphology, 24(7), 480-485.
• Schleiermacher, G., Peter, M., Oberlin, O., Philip, T., & Rubie, H. (2001). Increased risk of systemic relapses associated with bone marrow micrometastasis and circulating tumor cells in localized Ewing tumor. Journal of clinical oncology, 19(4), 810-816.
• Jackson, J. R., Patrick, D. R., Dar, M. M., Huang, P. S., & Robbins, P. (2007). The MDM2 antagonist nutlin-3 sensitizes p53-null neuroblastoma cells to doxorubicin via E2F1 and TAp73. International journal of oncology, 31(3), 575-582.
• Omim.org: Ewing Sarcoma
• EWSR1 gene in the Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man)
• Pubmed.gov: Ewing sarcoma
• National Cancer Institute. Ewing Sarcoma Treatment (PDQ®)-Patient Version
• Genewiki.eutils.ncbi.nlm.nih.gov: EWSR1 gene