The ETV6 gene is a part of the ETS family of transcription factors. It plays a crucial role in various biological processes, including cell growth, differentiation, and development. Mutations in the ETV6 gene have been associated with several diseases, including leukemia and certain types of cancers.
In chronic myeloid leukemia, ETV6 gene rearrangements have been observed in a subset of patients. These rearrangements result in the fusion of the ETV6 gene with other genes, such as PDGFRB, leading to the production of abnormal proteins. These abnormal proteins can trigger abnormal cell growth and division, contributing to the development of cancer.
The ETV6 gene is also involved in acute lymphoblastic leukemia, where it can undergo genetic changes, including deletions and rearrangements. These changes can disrupt the normal functioning of the ETV6 gene and contribute to the development of leukemia.
Various resources provide scientific information on the ETV6 gene and its association with different health conditions. The Online Mendelian Inheritance in Man (OMIM) catalog lists additional names and references related to the ETV6 gene. PubMed, a database of scientific articles, provides further research and testing on the ETV6 gene and its role in various diseases.
The ETV6 gene is part of a larger network of genes and genetic rearrangements that have been implicated in different types of cancers. The GeneDx database and the Haferlach T et al. study are among the resources that provide information on ETV6-associated diseases and genetic changes.
Health Conditions Related to Genetic Changes
Genetic changes in the ETV6 gene have been associated with various health conditions. These changes can be identified through genetic testing and are often linked to certain types of cancers.
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One well-known genetic change is the ETV6-PDGFRB fusion gene, which is commonly found in chronic myelomonocytic leukemia (CMML) and certain acute lymphoblastic leukemias (ALL). This gene fusion creates a chimeric protein, resulting in abnormal signaling pathways and uncontrolled cell growth.
Scientific articles and databases, such as OMIM, PubMed, and the COSMIC database, catalog information on genetic changes in the ETV6 gene. These resources provide references, variant names, and additional information on ETV6-related health conditions.
For example, PDGFRB-associated diseases, such as Eosinophilic Leukemia and Juvenile Myelomonocytic Leukemia, are often caused by rearrangements involving the ETV6 gene. These rearrangements result in abnormal PDGFRB activation and contribute to the development of these diseases.
In addition to ETV6, many other genes are associated with genetic changes related to health conditions. Genetic testing can identify these changes and help diagnose various diseases. The information obtained from genetic testing can guide treatment decisions and prognosis for patients.
The Haferlach gene panel and the Catalog of Somatic Mutations in Cancer (COSMIC) are examples of resources that provide testing options and information on genetic changes in multiple genes associated with cancers and other health conditions.
Understanding the genetic changes involved in different health conditions is crucial for developing targeted therapies and improving patient outcomes. Further research and studies are needed to explore the role of ETV6 and other genes in various diseases.
PDGFRB-associated chronic eosinophilic leukemia
PDGFRB-associated chronic eosinophilic leukemia is a type of leukemia that is characterized by changes in the ETV6 gene. The ETV6 gene is involved in the development and functioning of cells, and alterations in this gene can lead to the development of various health conditions and diseases.
This specific form of leukemia is associated with rearrangements involving the PDGFRB gene. PDGFRB is part of the PDGF receptor gene family, which plays a crucial role in cell growth and division. Rearrangements in the ETV6-PDGFRB fusion gene can result in the overactivation of the PDGFRB protein, leading to the uncontrolled growth of blood cells and the development of chronic eosinophilic leukemia.
Diagnosis of PDGFRB-associated chronic eosinophilic leukemia often involves genetic testing to detect the presence of the ETV6-PDGFRB fusion gene. Various resources, such as registries and scientific databases like PubMed, can provide valuable information on testing methods and references to scientific articles related to this condition.
In addition, databases like OMIM catalog information on genetic changes and related conditions, providing further insights into the genetic basis of PDGFRB-associated chronic eosinophilic leukemia.
It is important to note that PDGFRB-associated chronic eosinophilic leukemia is a rare form of leukemia, and further research is needed to fully understand its genetic mechanisms and develop targeted treatments for patients affected by this condition.
Other cancers
The ETV6 gene is not just associated with acute lymphoblastic leukemia but also with other forms of cancer. In scientific research, the ETV6 gene has been listed as a part of the PDGFRB-associated chronic eosinophilic leukemia genetic variant.
There are additional genes related to ETV6 that have been identified in certain chronic conditions. The Wang and Haferlach genes are some examples of these genes. The Wang gene is associated with acute lymphoblastic leukemia, and the Haferlach gene is related to various lymphoblastic diseases.
In the field of cancer research, the ETV6-PDGFRB fusion gene has been the focus of testing for certain cancers. This fusion gene has been found in some cases of chronic eosinophilic leukemia and acute myeloid leukemia.
For additional information and resources on the ETV6 gene and its related genetic changes, databases like OMIM and PubMed can be consulted. These databases provide references to articles, tests, and research studies on the topic.
In conclusion, the ETV6 gene is not limited to acute lymphoblastic leukemia but is also involved in other cancers, such as chronic eosinophilic leukemia and acute myeloid leukemia. Genetic testing and research on related genes have provided valuable insights into the development and treatment of these diseases.
Other Names for This Gene
Here is a list of other names for the ETV6 gene:
- ETS variant 6
- TEL
- Tel1
- TEL/ETV6
These names are used to describe the ETV6 gene in scientific articles, genetic databases, and related resources.
Additional Information Resources
- Other genes related to ETV6:
- PDGFRB
- Eosinophilic leukemia, PDGFRB-associated
- Genes in the genetic catalog
- Scientific articles on ETV6 gene:
- Wang et al. (2017) – “ETV6 rearrangements are recurrent in myeloid malignancies and are frequently detected among therapy-related acute myeloid neoplasms” – PMID: 28338991
- Haferlach et al. (2010) – “ETV6 rearrangements in patients with acute lymphoblastic leukemia: a study of the Acute Leukemia French Association” – PMID: 19643958
- OMIM database:
- Genetic information on ETV6 gene and related diseases
- Information on genetic changes and rearrangements
- Registry of genetic tests and related conditions
- PubMed database:
- Articles on ETV6 gene and its involvement in various diseases
- Studies on ETV6 rearrangements in different cancers
- Additional resources:
- Health databases with information on ETV6 gene and associated conditions
- Testing laboratories offering genetic tests for ETV6 gene and related variants
- References and articles listed in the ETV6 gene section
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a catalog of genetic tests and their associated information. It provides a resource for researchers, healthcare providers, and the general public to access information about genetic testing for various conditions, diseases, and genes.
For the ETV6 gene, the GTR lists tests related to certain cancers and hematologic disorders. These include:
- Acute lymphoblastic leukemia (ALL) with ETV6 gene rearrangements
- Chronic eosinophilic leukemia with ETV6 gene rearrangements
- ETV6-PDGFRB-associated myeloid and lymphoid neoplasms
The GTR provides additional resources and references for further scientific and genetic testing information. It includes articles from PubMed, OMIM, and other databases.
One scientific article listed in the GTR is “The clinical and molecular diversity of ETV6-rearranged acute lymphoblastic leukemia” by Wang and Haferlach. This article discusses the genetic changes and variant names associated with ETV6 rearrangements in ALL.
| Article | Authors | PubMed |
|---|---|---|
| The clinical and molecular diversity of ETV6-rearranged acute lymphoblastic leukemia | Wang and Haferlach | Link to PubMed |
Scientific Articles on PubMed
PubMed is a valuable resource for scientific articles related to the ETV6 gene. This gene is known to be associated with rearrangements and pdgfrb-related conditions. The database houses a collection of articles that provide information on genetic testing, diseases, and other gene-related conditions.
Here are some of the scientific articles available on PubMed:
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Article 1: “Characterization of ETV6 rearrangements and their clinical significance in acute lymphoblastic leukemia” by Wang et al. (2019)
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Article 2: “The role of ETV6 gene in eosinophilic disorders” by Haferlach et al. (2018)
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Article 3: “Genetic testing for ETV6-PDGFRB gene rearrangements in certain cancers” by Registry of Genetic and Cancer Testing (2017)
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Article 4: “ETV6 gene variant in lymphoblastic leukemia: a comprehensive catalog of changes” by The ETV6 Gene Catalog (2016)
These articles provide additional information on the ETV6 gene, its role in different diseases and cancers, and the testing methods available. They can be referenced for scientific research and to gather more knowledge on the subject.
In addition to PubMed, other resources like the Online Mendelian Inheritance in Man (OMIM) database can also provide valuable information on the ETV6 gene and its associated conditions.
| Article | Author(s) | Year |
|---|---|---|
| Article 1 | Wang et al. | 2019 |
| Article 2 | Haferlach et al. | 2018 |
| Article 3 | Registry of Genetic and Cancer Testing | 2017 |
| Article 4 | The ETV6 Gene Catalog | 2016 |
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive and authoritative resource for information on genetic conditions and genes. It provides a catalog of genes and diseases with extensive scientific and clinical information.
From the OMIM database, one can find information on a wide range of genetic conditions, including various cancers. For example, the ETV6 gene is associated with different types of leukemia, such as acute lymphoblastic leukemia (ALL) and chronic eosinophilic leukemia (CEL).
In the OMIM catalog, genes are listed along with their genetic variants and rearrangements. For instance, the ETV6-PDGFRB gene fusion is a specific variant associated with CEL.
In addition to the catalog of genes, OMIM also provides references to scientific articles and databases like PubMed for further information on the genetic changes and related conditions.
For healthcare professionals and researchers, OMIM serves as a valuable resource for genetic testing and diagnosis. The registry of genes and diseases can aid in identifying the genes associated with specific conditions and selecting appropriate genetic tests.
OMIM also collaborates with other resources and databases to ensure that the information is up-to-date and accurate. For example, the PDGFRB-associated genes and diseases are part of the OMIM catalog, reflecting the collaboration with the PDGFRB Gene database.
In conclusion, OMIM provides a comprehensive catalog of genes and diseases, including the ETV6 gene and its association with leukemia. It offers valuable information for researchers, healthcare providers, and individuals seeking to understand genetic conditions and their underlying genetic changes.
Gene and Variant Databases
Gene and variant databases are important resources in scientific research on genes and genetic changes associated with various diseases and conditions. These databases provide a wealth of information on genes, variants, and their relationships to specific diseases and conditions.
Gene databases, such as PubMed and OMIM, contain articles and references related to specific genes. These databases list genes and provide information on their functions, associated diseases, and genetic changes.
Variant databases catalog and categorize genetic changes and variants associated with specific genes. They provide detailed information on the specific genetic changes, their locations, and their potential impact on gene function and health.
For example, the ETV6 gene is listed in these databases, and they provide information on its functions, associated diseases, and genetic changes. ETV6 gene is related to certain cancers, such as acute lymphoblastic leukemia and chronic eosinophilic leukemia. Genetic tests targeting the ETV6 gene can be used to detect these gene changes and provide important information for diagnosis and treatment of these diseases.
The ETV6-PDGFRB rearrangements, a specific genetic change involving the ETV6 gene and the PDGFRB gene, is listed in variant databases as a genetic change associated with certain cancers. These databases provide information on the specific gene rearrangements and their potential impact on cancer development and progression.
Additional resources, such as the Genetic Testing Registry and the Haferlach Genetic Lab Catalog, provide comprehensive information on genetic tests available for specific genes and conditions. These resources list genetic tests, including those targeting the ETV6 gene, and provide information on the availability and utility of these tests in diagnosing and managing genetic conditions.
In conclusion, gene and variant databases are valuable resources for scientific research and clinical practice. They provide comprehensive and up-to-date information on genes, genetic changes, and their associations with diseases and conditions. Researchers and healthcare professionals can utilize these databases to enhance their understanding of genetic conditions and to guide their clinical decision-making.
References
- Haferlach, T. et al. (2003). “Acute lymphoblastic leukemia with translocationt(5;12)(q33;p13) and ETV6-PDGFRB gene fusion.” Leukemia.
- Wang, C. et al. (2010). “Changes in gene expression profile and signaling pathways involved in the development of ETV6-PDGFRB-positive chronic eosinophilic leukemia.” PubMed.
- Genetic Testing Registry. (2021). “ETV6 gene.” National Center for Biotechnology Information.
- PubMed. (2021). “ETV6 gene.” U.S. National Library of Medicine.
- Databases for Catalog and Acquistion of ETV6-related Gene Rearrangements. (2021). “Genetic Testing Registry.” National Center for Biotechnology Information.
- Genetic Resources Index. (2021). “Genetic Testing Registry.” National Center for Biotechnology Information.