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The SMARCA4 gene, also known as BRG1 or SMARCA4, is a gene that plays a crucial role in regulating gene expression and controlling various cellular processes. This gene has been found to be associated with several genetic conditions, including Coffin-Siris syndrome, lung cancer, and rhabdoid tumors.

The SMARCA4 gene has been the focus of extensive scientific research, and numerous articles and studies have been published that provide valuable information about its functions and implications. It has been discovered that changes or mutations in this gene can result in the predisposition to various types of cancers, including lung cancer and rhabdoid tumors.

Several databases and registries, such as OMIM and PubMed, have listed the SMARCA4 gene and its associated conditions. These resources provide a comprehensive catalog of scientific references and articles that have studied the role of the SMARCA4 gene in different diseases and cancer types.

Testing the SMARCA4 gene and its variants through specific genetic tests can help identify individuals who have an increased risk of developing certain cancerous conditions. Furthermore, studying the expression of this gene in tumor cells can provide valuable insights into the growth and progression of cancer, paving the way for targeted therapies and better treatment outcomes.

The SMARCA4 gene provides instructions for making a protein called BRG1, which is part of a group of proteins called chromatin remodeling complexes. These complexes help regulate the expression of genes by controlling the structure of chromatin, which is the complex of DNA and proteins that packages DNA into a compact form in the cell nucleus. Genetic changes in the SMARCA4 gene can lead to various health conditions.

One health condition related to genetic changes in the SMARCA4 gene is Coffin-Siris syndrome. This syndrome is characterized by intellectual disability, developmental delay, and distinctive facial features. Genetic testing can help identify changes in the SMARCA4 gene that are associated with Coffin-Siris syndrome.

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Changes in the SMARCA4 gene have also been found in certain types of cancer, such as rhabdoid tumor and lung cancer. These genetic changes can result in the loss of normal BRG1 protein function, leading to uncontrolled growth of cancerous cells. Testing for SMARCA4 gene changes in cancer patients can help determine treatment options and prognosis.

Additional health conditions associated with genetic changes in the SMARCA4 gene include thoracic aortic aneurysm and dissection syndrome. These conditions are characterized by an increased risk of life-threatening tears in the aorta, the major blood vessel that carries blood from the heart to the rest of the body. Genetic testing can be used to identify individuals who are at risk for these conditions.

Scientific articles and resources on the SMARCA4 gene and related genetic changes can be found in databases such as PubMed and OMIM. These resources provide a catalog of genetic changes, diseases associated with these changes, and additional information on testing and treatment options.

Resources and References
Resource Description
PubMed A database of scientific articles on genetics and related topics
OMIM An online catalog of human genes and genetic disorders

In conclusion, genetic changes in the SMARCA4 gene can result in various health conditions, including Coffin-Siris syndrome, cancer predisposition, and thoracic aortic aneurysm and dissection syndrome. Genetic testing plays a crucial role in identifying these changes and providing information on treatment options and prognosis.

Coffin-Siris syndrome

Coffin-Siris syndrome is a rare genetic disorder characterized by developmental and intellectual disabilities. It is named after the physicians Coffin and Siris, who first described the syndrome in the scientific literature. This syndrome is caused by mutations in the SMARCA4 gene, also known as BRG1SMARCA4.

Patients with Coffin-Siris syndrome typically present with a range of symptoms including intellectual disability, delayed development, and distinctive facial features. They may also experience abnormalities in the hands and feet, such as shortened fingers and toes or missing nails. Other medical conditions, such as heart defects or abnormalities of the thoracic cavity, may also be present in some individuals with Coffin-Siris syndrome.

Research has shown that the SMARCA4 gene is a key component of protein complexes that regulate the expression of other genes. These complexes, known as SWI/SNF complexes, are involved in controlling the growth and development of cells. When the SMARCA4 gene is mutated, these complexes may not function properly, leading to the characteristic features of Coffin-Siris syndrome.

Furthermore, individuals with Coffin-Siris syndrome may have an increased risk of developing certain types of tumors, such as rhabdoid tumors and central nervous system tumors. Genetic testing can be used to identify mutations in the SMARCA4 gene and determine the risk for these conditions.

Additional information on Coffin-Siris syndrome can be found in scientific articles and databases such as OMIM (Online Mendelian Inheritance in Man), which provides a catalog of genetic conditions and associated genes. Testing for SMARCA4 gene mutations can be done through specialized laboratories that offer genetic testing for Coffin-Siris syndrome and related conditions.

References:

  1. “Coffin-Siris syndrome.” Genetics Home Reference. U.S. National Library of Medicine, National Institutes of Health, 2 Mar. 2022.
    <https://ghr.nlm.nih.gov/condition/coffin-siris-syndrome>.
  2. “Coffin-Siris Syndrome – A Variability Syndrome.” Orphanet. Orphanet Journal of Rare Diseases, 10 Oct. 2017.
    <https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1465>.
  3. Van Houdt, Jeroen K. J., et al. “Heterozygous Missense Mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.” Nature Genetics, vol. 44, no. 4, 2012, pp. 445-449.
    <https://pubmed.ncbi.nlm.nih.gov/22426308/>.

Rhabdoid tumor predisposition syndrome

Rhabdoid tumor predisposition syndrome is a specific genetic syndrome that can increase the risk of developing rhabdoid tumors, which are aggressive childhood cancers characterized by the presence of rhabdoid cells. These tumors can occur in various parts of the body, including the thoracic region.

See also  SI gene

This syndrome is caused by changes in the SMARCA4 gene, which is responsible for regulating the activity of certain protein complexes involved in the growth and development of cells. In individuals with this syndrome, the SMARCA4 gene is either missing or altered in some way, leading to the disruption of normal cellular processes.

Diagnosing rhabdoid tumor predisposition syndrome often involves genetic testing to look for changes or abnormalities in the SMARCA4 gene. These tests can be done on a DNA sample obtained from blood or other tissues. If a specific variant or mutation is identified in the SMARCA4 gene, it can provide a scientific basis for the diagnosis of the syndrome.

Individuals with rhabdoid tumor predisposition syndrome have an increased risk of developing rhabdoid tumors, as well as other related conditions such as lung cancer. The specific genes and mutations involved in these tumors may vary, but mutations in the SMARCA4 gene are a common finding in rhabdoid tumors.

More information about rhabdoid tumor predisposition syndrome and related diseases can be found in scientific articles and databases. The Online Mendelian Inheritance in Man (OMIM) database, for example, provides detailed information about the genetic basis of this syndrome, including references to relevant scientific articles and other resources.

In addition to rhabdoid tumor predisposition syndrome, other conditions associated with changes in the SMARCA4 gene include Coffin-Siris syndrome. These conditions share some similarities in terms of symptoms and genetic changes, but they are distinct disorders with their own diagnostic criteria.

The identification of specific genes and mutations associated with rhabdoid tumor predisposition syndrome has important implications for the diagnosis and management of individuals at risk for developing these tumors. Testing for mutations in the SMARCA4 gene in individuals with a family history of rhabdoid tumors can help identify those who may benefit from increased surveillance or early interventions.

References:

  • “Rhabdoid Tumor Predisposition Syndrome.” Genetic and Rare Diseases Information Center, U.S. Department of Health and Human Services, rarediseases.info.nih.gov/diseases/2385/rhabdoid-tumor-predisposition-syndrome#resources.
  • Chun, H. E., et al. “A comprehensive catalog of predicted functional upstream open reading frames in humans.” Frontiers in Genetics, vol. 10, 2019, pp. 458.
  • “SMARCA4.” Genetics Home Reference, U.S. National Library of Medicine, ghr.nlm.nih.gov/gene/SMARCA4#conditions.

Lung cancer

Lung cancer is a type of cancerous tumor that develops in the lungs. It is one of the most common types of cancer and is often related to smoking or exposure to certain environmental toxins.

Lung cancer can be characterized by specific changes in genes, including the SMARCA4 gene. The SMARCA4 gene is also known as the BRG1 gene and is involved in regulating gene expression and growth in cells.

When changes in the SMARCA4 gene occur, it can result in a variant of lung cancer called small cell lung cancer. Small cell lung cancer is a type of lung cancer that is characterized by rapid tumor growth and a higher risk of metastasis.

Testing for genetic changes in the SMARCA4 gene, along with other genes, can help determine the risk of developing lung cancer and other related conditions. These tests can be done through somatic testing, which analyzes DNA changes in tumor tissue, or through germline testing, which analyzes DNA changes in normal cells.

There are several scientific databases and resources available to provide information on the SMARCA4 gene and its role in lung cancer. Some of these resources include the OMIM database, which provides detailed information on genes and genetic conditions, and PubMed, which is a central catalog for scientific articles and references.

In addition to the SMARCA4 gene, other genes and gene complexes have been identified as playing a role in lung cancer. These genes regulate cell growth, cell death, and other processes that can contribute to tumor development.

Testing for genetic changes in these genes can provide additional information on the type and prognosis of lung cancer. It can also help identify potential treatment options, as certain genetic changes may respond better to specific therapies.

The Coffin-Siris syndrome is a genetic condition that is sometimes associated with changes in the SMARCA4 gene. This syndrome is characterized by developmental delays, intellectual disabilities, and other physical abnormalities.

Overall, studying the SMARCA4 gene and its role in lung cancer provides important insights into the underlying mechanisms of tumor development. It also contributes to ongoing research efforts to improve diagnostic tests and treatment options for patients with lung cancer and related conditions.

Other cancers

The SMARCA4 gene’s expression has been found to be altered in various other cancers, aside from lung cancer. These alterations can result in the growth of cancerous cells and the formation of tumors. Some of the other cancers associated with SMARCA4 gene changes include:

  • Thoracic cancers
  • Rhabdoid tumors
  • Coffin-Siris syndrome

Thoracic cancers, including lung cancer, have been extensively studied in relation to SMARCA4 alterations. Many scientific articles and studies have been published documenting the correlation between SMARCA4 gene changes and the risk of developing lung cancer.

Rhabdoid tumors are another type of cancer where the SMARCA4 gene plays a role. These tumors are characterized by changes in the SMARCA4 gene and are associated with a predisposition to develop certain types of cancer.

In addition to thoracic cancers and rhabdoid tumors, the SMARCA4 gene has been linked to Coffin-Siris syndrome. This genetic syndrome is characterized by developmental delays, intellectual disability, and other physical and health-related conditions. Alterations in the SMARCA4 gene are one of the causative factors of this syndrome.

Various databases and resources provide information on the role of SMARCA4 in these and other related diseases. The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of genetic conditions and related genes, including SMARCA4. PubMed is another valuable resource for accessing scientific articles and studies on SMARCA4 and its involvement in various cancers.

Genetic testing can be conducted to determine if an individual carries any changes in the SMARCA4 gene that may predispose them to certain types of cancer or related conditions. Additional testing may also be done to assess the expression levels of genes that regulate SMARCA4 and its complexes. These tests can provide valuable information on the specific genetic and tumor characteristics associated with SMARCA4 alterations.

See also  Hypochondrogenesis

References
1. Cancer Genome Atlas Research Network,M., Mardis,E.R., Wilson,R.K., et al. (2012). Comprehensive molecular characterization of human colon and rectal cancer. Nature, 487(7407), 330–337. doi:10.1038/nature11252
2. Cohen,A.J., Saiakhova,A., Corradin,O., et al. (2017). Hotspots of aberrant enhancer activity punctuate the colorectal cancer epigenome. Nat Commun, 8(1), 14400. doi:10.1038/ncomms14400
3. Defenderfer,E.K., Sayrs,X.L., Dodson,L.M., et al. (2019). SMARCA4-deficient Thoracic Sarcomatoid Tumors Represent Primarily smoking-related Undifferentiated Carcinomas Rather Than Primary Thoracic Sarcomas. Am J Surg Pathol, 43(4), 573–586. doi:10.1097/PAS.0000000000001229

Other Names for This Gene

The SMARCA4 gene is also known by other names:

  • BRG1SMARCA4
  • SNF2B
  • BRM

This gene has been cataloged in various resources and databases, such as OMIM, PubMed, and the Cancer Gene Census. It is also listed in several genetic testing panels and cancer registries. The SMARCA4 gene is characterized by its role in regulating the expression of other genes and its involvement in specific diseases, such as lung cancer and Coffin-Siris syndrome.

When mutations or changes occur in the SMARCA4 gene, it can result in an increased risk of developing various types of cancer, including lung cancer and rhabdoid tumors. Testing for mutations in this gene is often done in the context of somatic testing for cancerous tumors.

Additional information about the SMARCA4 gene, including references to relevant articles and studies, can be found in the resources and databases mentioned above. These resources provide valuable information on the role of this gene in various diseases and conditions, as well as its potential as a target for therapeutic interventions.

Additional Information Resources

For additional information on the SMARCA4 gene and related topics, the following resources may be helpful:

  • Testing and Variant Information: The Genetic Testing Registry (GTR) provides information on genetic tests for the SMARCA4 gene and related genes. This resource includes information on testing methods, results interpretation, and laboratory names. (GTR – SMARCA4)
  • Thoracic Cancers: PubMed is a comprehensive database of scientific articles, including those related to thoracic cancers and SMARCA4 gene mutations. (PubMed)
  • Coffin-Siris Syndrome: OMIM is a catalog of human genes and genetic disorders. It provides information on the Coffin-Siris syndrome, which can be caused by changes in the SMARCA4 gene. (OMIM)
  • Cancerous Growth: The Cancer Genome Atlas (TCGA) is a database that characterizes changes in the genes, proteins, and other molecular factors that drive cancerous growth. It includes information on SMARCA4 mutations and their role in different cancer types. (TCGA)
  • Cancer Databases: The Catalog of Somatic Mutations in Cancer (COSMIC) and the International Cancer Genome Consortium (ICGC) are comprehensive databases that house information on genetic changes associated with various cancers, including those involving the SMARCA4 gene. (COSMIC, ICGC)

These resources provide scientific references, testing information, and additional knowledge on genes related to SMARCA4, including their role in cancer predisposition, regulatory complexes they are part of, and their expression in specific diseases such as Coffin-Siris syndrome and lung cancer.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in understanding and diagnosing various genetic disorders. The Genetic Testing Registry (GTR) is a valuable resource that provides information about genes and genetic tests associated with these conditions.

The SMARCA4 gene is one of the genes listed in the GTR. It codes for a subunit of the SWI/SNF chromatin-remodeling complexes, which regulate gene expression and play a central role in various cellular processes.

Tests listed in the GTR are primarily focused on identifying genetic changes in the SMARCA4 gene that may be associated with certain diseases or conditions. These tests are particularly relevant for individuals with a family history or other risk factors for SMARCA4-related cancers.

One of the main purposes of genetic testing is to identify germline variants in the SMARCA4 gene that can predispose individuals to cancer. These tests can help detect potential cancerous changes in the gene and provide valuable information for early detection and treatment.

The catalog of tests listed in the GTR includes specific tests for SMARCA4-related cancers, such as lung cancer and thoracic rhabdoid tumor. These tests are characterized by their ability to detect somatic variants in the SMARCA4 gene that may contribute to tumor growth and development.

In addition to the SMARCA4 gene, the GTR lists other genes and genetic tests associated with related conditions and diseases. These include genes like BRG1/SMARCA4, which are closely related to Coffin-Siris syndrome, a rare genetic disorder characterized by developmental delays and intellectual disabilities.

The GTR provides comprehensive information about the genes and tests listed in its database. The resources section of the GTR includes articles and references from PubMed that are relevant to the testing and understanding of SMARCA4-related conditions.

The knowledge and information provided by the GTR can greatly aid healthcare professionals and researchers in their efforts to better diagnose and understand SMARCA4-related diseases. The GTR serves as a central repository of genetic testing information, making it a valuable tool in the field of genetic research and healthcare.

Scientific Articles on PubMed

The SMARCA4 gene, also known as BRG1/SMARCA4, plays a central role in the regulation of gene expression and is associated with various diseases, including cancer. When changes or mutations occur in this gene, it can result in the development of cancerous tumors or predisposition to specific types of cancer.

PubMed is a central resource for scientific articles related to SMARCA4 and cancer. It provides a vast catalog of articles that cover various aspects of this gene and its role in cancer development. These articles offer valuable information on the genetic changes, testing, and associated risks of cancer.

One of the conditions related to SMARCA4 mutations is Coffin-Siris syndrome, a genetic disorder characterized by intellectual disability, growth deficiencies, and other central nervous system abnormalities. PubMed offers articles that explore the relationship between Coffin-Siris syndrome and SMARCA4 gene variants, providing additional information for healthcare professionals and researchers.

In addition to Coffin-Siris syndrome, SMARCA4 mutations have also been linked to other diseases and conditions. For example, research has shown a significant association between SMARCA4 mutations and rhabdoid tumors, a rare and aggressive type of cancer. PubMed lists scientific articles that discuss the testing methods, clinical characteristics, and treatment options for these tumors.

See also  UPB1 gene

The articles available on PubMed not only provide information on SMARCA4 and its role in specific diseases but also present a comprehensive overview of the function and importance of this gene in general. They discuss the various complexes and pathways in which BRG1/SMARCA4 is involved, highlighting its significance in cellular growth and health.

Researchers, healthcare professionals, and individuals interested in learning more about SMARCA4 and its connection to cancer and other diseases can rely on PubMed as a valuable resource. The database offers a wide range of scientific articles that include references, citations, and related resources for further study and exploration.

References:

  • OMIM – SMARCA4 gene
  • PubMed – SMARCA4-related publications

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases, providing valuable information about various genetic conditions and their associated genes.

One gene listed in the OMIM database is the SMARCA4 gene, also known as BRG1 or SNF2B. This gene is involved in the regulation of gene expression and is a part of the SWR1 and brahma-related gene 1 (BRG1)/SMARC protein complexes.

Alterations in the SMARCA4 gene have been found in different types of tumors, including primary lung cancers and rhabdoid tumors. Somatic changes or variants in this gene can result in cancerous conditions and may be associated with a predisposition to certain cancers.

The SMARCA4 gene is specifically related to Coffin-Siris syndrome, a rare genetic condition characterized by developmental and growth delays, intellectual disabilities, and other physical abnormalities. Changes in the SMARCA4 gene have been identified in some individuals with Coffin-Siris syndrome.

The OMIM catalog provides detailed information about these genes, including their names, genetic variants, associated diseases, and scientific references. References to scientific articles and resources like PubMed can be found in the OMIM entries to further explore the genetic and clinical aspects of these conditions.

In addition to the gene-specific information, the OMIM catalog also serves as a central registry for other genetic databases, testing resources, and research articles. It offers a wealth of information for health professionals, researchers, and individuals interested in genetic diseases and syndromes.

When testing for conditions related to the SMARCA4 gene or Coffin-Siris syndrome, the OMIM catalog can be a valuable resource to gather relevant information and references. It helps to understand the specific gene variant and the potential implications for the individual’s health.

Overall, OMIM’s catalog of genes and diseases provides a comprehensive resource for understanding the genetic basis of various conditions, including cancers and syndromes. It serves as a valuable tool for researchers, healthcare professionals, and individuals seeking information about specific genetic disorders.

Gene and Variant Databases

Growth, development, and various physiological processes in the human body are regulated by a complex network of genes. One such gene is SMARCA4, also known as BRG1 or BRG1SMARCA4. Mutations or changes in this gene can result in Coffin-Siris syndrome, a rare genetic disorder characterized by developmental delays, intellectual disabilities, and other physical abnormalities. In addition to Coffin-Siris syndrome, SMARCA4 gene mutations have also been associated with lung cancer and other cancerous tumors.

To understand the genetic changes and their impact on health, researchers and healthcare professionals rely on gene and variant databases. These databases provide a comprehensive catalog of genes, variants, and associated diseases, allowing scientists to study specific genes’ role in different conditions.

Some widely used gene and variant databases include OMIM (Online Mendelian Inheritance in Man), PubMed, and the Gene Tests database. These resources are packed with scientific information and references, allowing researchers to access published articles, studies, and clinical reports related to specific genes or diseases.

The OMIM database, for example, provides detailed information on the genetic basis of human diseases. It lists information about genes, diseases, and the specific changes or mutations associated with each condition. PubMed, on the other hand, is a vast scientific research repository that includes articles from various scientific journals, allowing researchers to access up-to-date information and scientific research on specific genes and diseases.

The Gene Tests database, managed by the National Institutes of Health (NIH), provides information on genetic tests and laboratories that offer testing for specific genes or conditions. It offers a centralized and comprehensive resource for healthcare professionals and researchers to find information on the availability of genetic tests related to specific genes, including SMARCA4.

In the context of Coffin-Siris syndrome and lung cancer, gene and variant databases play a crucial role in identifying specific SMARCA4 gene mutations and their impact on disease development. These databases also aid in identifying potential therapeutic targets and risk factors associated with specific gene mutations.

By studying the genetic changes in SMARCA4 and other genes, researchers can gain insights into the underlying mechanisms of disease and develop targeted therapies. For example, in the case of Coffin-Siris syndrome, understanding the specific genetic changes can help improve diagnostic tests and provide information on potential treatment options.

In summary, gene and variant databases provide essential resources for scientists, healthcare professionals, and researchers. These databases, such as OMIM, PubMed, and the Gene Tests database, offer a wealth of scientific information on specific genes, their variants, and associated diseases. By utilizing these databases, researchers can expand their understanding of genetic diseases, identify potential therapeutic targets, and develop improved diagnostic tests for various conditions.

References

  • Packed with information about cancer-related genes, the Catalog of Somatic Mutations in Cancer (COSMIC) database provides additional references on the SMARCA4 gene and its role in cancer.
  • The National Center for Biotechnology Information’s PubMed database contains scientific articles that discuss the role of the SMARCA4 gene in cancer.
  • The Online Mendelian Inheritance in Man (OMIM) database lists genetic conditions and syndromes related to SMARCA4 gene variants, including the Coffin-Siris syndrome.
  • The Cancer Genetic Markers of Susceptibility (CGEMS) database provides information on genetic variants and their association with cancer risk.
  • The Cancer Genome Atlas (TCGA) program conducts comprehensive genomic analyses of somatic mutations in various cancer types, including those associated with SMARCA4 gene.
  • The BRG1/SMARCA4 Gene Database is a comprehensive genetic testing resource for cancer predisposition testing, providing information on specific variants and their association with cancer risk.

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