SMARCB1 gene – Austra Health

The SMARCB1 gene, also known as SNF5, is a key gene involved in several genetic syndromes and predisposition to cancer. This gene is part of the SWI/SNF chromatin remodeling complex, which plays a critical role in regulating gene expression. Mutations or changes in the SMARCB1 gene can lead to the development of cancerous tumors in various parts of the body.

Schwannomatosis is one of the conditions associated with mutations in the SMARCB1 gene. This syndrome predisposes individuals to the development of multiple schwannomas, benign tumors that originate from Schwann cells. The SMARCB1 gene is listed as a susceptibility gene for schwannomatosis in various genetic databases and resources, such as OMIM (Online Mendelian Inheritance in Man) and the Tumor Predisposition and Cancer Gene Panels of the Genetic Testing Registry.

Studies have shown that changes in the SMARCB1 gene can also increase the risk of developing rhabdoid tumors, as seen in patients with rhabdoid tumor predisposition syndrome. In addition, variants in the SMARCB1 gene have been found in individuals with Coffin-Siris syndrome, a rare genetic disorder characterized by developmental and intellectual disabilities.

Understanding the function and impact of the SMARCB1 gene is crucial for identifying individuals at risk of developing cancer and other related diseases. Scientists and researchers have conducted numerous scientific studies and published articles exploring the role of the SMARCB1 gene in various diseases, providing valuable information for healthcare professionals.

In conclusion, the SMARCB1 gene, also known as SNF5, is an important gene associated with cancer predisposition syndromes and the development of tumors. Mutations or changes in this gene have been linked to diseases such as schwannomatosis, rhabdoid tumor predisposition syndrome, and Coffin-Siris syndrome. Further research and genetic testing can help identify individuals with an increased risk of cancers and other related health conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the SMARCB1 gene can lead to various health conditions, including:

Rhabdoid tumor predisposition syndrome: Individuals with changes in the SMARCB1 gene have an increased risk of developing rhabdoid tumors. These tumors typically occur in the central nervous system and are aggressive in nature.
Schwannomatosis: Some individuals with SMARCB1 gene changes may develop schwannomatosis, a rare genetic disorder characterized by the development of multiple schwannomas. Schwannomas are benign tumors that arise from Schwann cells surrounding nerves.
Coffin-Siris syndrome: Changes in the SMARCB1 gene have also been associated with Coffin-Siris syndrome, a rare genetic disorder characterized by developmental delays, intellectual disability, and various physical abnormalities.

These health conditions are caused by alterations in the expression or structure of the SMARCB1 gene. In some cases, the gene may be completely absent or reduced in its function.

Studies have shown that changes in the SMARCB1 gene can also be found in other types of cancer, such as malignant rhabdoid tumors and some forms of schwannomatosis. The absence or reduced function of the SMARCB1 protein is thought to contribute to the development of these cancerous tumors.

To determine if an individual has genetic changes in the SMARCB1 gene, various tests can be conducted, including genetic testing and molecular analysis. These tests can provide valuable information for diagnosis and treatment decisions.

Further scientific research and genetic studies are being conducted to understand the role of the SMARCB1 gene in different diseases and its impact on overall health. The International Cancer Genome Consortium and other scientific resources provide a wealth of information and references on this topic.

Coffin-Siris syndrome

Coffin-Siris syndrome is a rare genetic disorder that affects the growth and development of individuals. It is a central nervous system disorder caused by changes in the SMARCB1 gene.

Individuals with Coffin-Siris syndrome have an increased risk of developing various health conditions. Some of the conditions that are listed as associated with this syndrome include schwannomatosis, rhabdoid tumor predisposition syndrome, and Coffin-Siris syndrome variant.

The SMARCB1 gene, also known as SNF5, is packed with information that regulates the expression and change of several other genes. Mutations in this gene can result in the absence or reduced expression of these genes, leading to various health conditions.

Additional tests and examinations are usually conducted to confirm a diagnosis of Coffin-Siris syndrome. These tests may include genetic testing, tumor databases, and catalog searches to identify any associated conditions.

Scientific articles and resources on Coffin-Siris syndrome can be found in databases such as OMIM, PubMed, and the Genetic Registry of Schwannomatosis and Rhabdoid Tumor Predisposition Syndrome. These resources provide information on the genetic basis of the syndrome and its association with other diseases.

References:

Coffin-Siris Syndrome – OMIM
Coffin-Siris Syndrome – Genetic Registry of Schwannomatosis and Rhabdoid Tumor Predisposition Syndrome
Coffin-Siris Syndrome Variant – OMIM
Hulsebos TJ, SMARCB1/INI1: A novel tumor suppressor gene in schwannomatosis and rhabdoid tumors. Histol Histopathol. 2008;23(4):407-412.
Wesseling P, et al. The SWI/SNF complex regulates the expression of genes essential for Schwann cell development and myelination. Exp Neurol. 2001;170(1):4-14.

For additional information on Coffin-Siris syndrome and related conditions, it is recommended to consult the above references and scientific articles.

Rhabdoid tumor predisposition syndrome

Rhabdoid tumor predisposition syndrome (RTPS) is a rare genetic condition characterized by an increased risk of developing rhabdoid tumors. Rhabdoid tumors are aggressive and highly malignant cancers that can occur in various organs, including the brain, kidney, and soft tissues.

This syndrome is caused by genetic changes in the SMARCB1 gene, also known as the SNF5 gene. The SMARCB1 gene provides instructions for making a protein that is a part of a larger complex called the SWI/SNF complex. This complex is involved in regulating the expression of other genes and plays a crucial role in controlling cell growth and division.

In individuals with RTPS, there is either a variant (change) in the SMARCB1 gene or the gene is completely absent. This leads to a loss of function of the SMARCB1 protein, disrupting the normal functioning of the SWI/SNF complex. As a result, cells may grow uncontrollably and form cancerous tumors.

RTPS is inherited in an autosomal dominant manner, which means that a person with an altered SMARCB1 gene has a 50% chance of passing the condition on to each of their children. However, RTPS can also occur sporadically, without a family history of the condition.

Diagnosis of RTPS involves genetic testing to identify changes in the SMARCB1 gene. Additional tests, such as imaging studies and biopsies, may be performed to determine the presence and extent of rhabdoid tumors.

Management of RTPS involves regular screenings and surveillance for the development of rhabdoid tumors. Depending on the location and stage of the tumors, treatment options may include surgery, chemotherapy, and radiation therapy.

References:

Genetics Home Reference. (2021). Rhabdoid tumor predisposition syndrome. Retrieved from https://ghr.nlm.nih.gov/condition/rhabdoid-tumor-predisposition-syndrome
Online Mendelian Inheritance in Man (OMIM). (2021). SMARCB1 Gene – 601607. Retrieved from https://omim.org/entry/601607
National Organization for Rare Disorders (NORD). (2021). Rhabdoid Tumor Predisposition Syndrome. Retrieved from https://rarediseases.org/rare-diseases/rhabdoid-tumor-predisposition-syndrome/

Additional information can be found through scientific articles, databases, and resources such as PubMed, the Coffin-Siris Syndrome Foundation, and the Cancer Genetics Registry.

Schwannomatosis

Schwannomatosis is a related change in the SMARCB1 gene that is not as well understood as other genetic changes related to schwannomatosis.

Citation and articles listed in scientific databases such as PubMed provide additional information on this syndrome and related diseases. Syndrome names such as rhabdoid tumor predisposition syndrome type 2 (OMIM 613325) and Coffin-Siris syndrome (OMIM 135900) are also associated with variant testing of the SMARCB1 gene.

Through these resources, information on the absence of gene change, reduced gene expression, and testing for schwannomatosis can be found. Other genetic changes, such as those in the SMARCE1 and LZTR1 genes, have also been found to be related to schwannomatosis. These changes can lead to the growth of tumors in various locations, including central nervous system cancers and cancerous tumors outside the central nervous system.

Genes	Associated Syndrome	References
SMARCB1	Schwannomatosis	PubMed
SMARCE1	Schwannomatosis	PubMed
LZTR1	Schwannomatosis	PubMed

Other cancers

In addition to Coffin-Siris syndrome, mutations in the SMARCB1 gene have been associated with other cancer predisposition syndromes. One such syndrome is Schwannomatosis, which is characterized by the development of multiple schwannomas. Schwannomatosis is distinct from Neurofibromatosis type 2 (NF2) and is not caused by mutations in the NF2 gene.

Schwannomatosis has been linked to mutations in multiple genes, including SMARCB1. The presence of SMARCB1 mutations in some cases of Schwannomatosis suggests that there is a shared molecular pathway between these two syndromes. The exact relationship between SMARCB1 mutations and the development of schwannomas is still being investigated.

The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genetic diseases and related scientific articles. Several articles listed in OMIM discuss the association between SMARCB1 mutations and the development of schwannomas. These articles are packed with information about the molecular changes in the SMARCB1 gene and its role in the development of schwannomatosis.

In addition to SMARCB1, other genes have also been implicated in the development of schwannomas. The absence of SMARCB1 mutations in some cases of schwannomatosis suggests that there are additional genes involved in the pathogenesis of this condition.

Genetic testing for SMARCB1 mutations can help identify individuals with a higher risk of developing schwannomas. This information is important for managing the health of individuals with schwannomatosis and can guide decisions regarding surveillance and treatment.

The Genetic Testing Registry (GTR) provides information on genetic tests for various conditions, including schwannomatosis. Testing for SMARCB1 mutations can be conducted through the GTR, and the results can help determine the genetic cause of the condition.

References to scientific articles discussing SMARCB1 and schwannomatosis can be found in databases such as PubMed. These articles provide valuable insights into the molecular mechanisms underlying schwannomatosis and can help guide further research into this condition.

Other Names for This Gene

The SMARCB1 gene is also known by other names:

SNF5 gene
INI1 gene

These names are often used interchangeably to refer to the same gene.

The SMARCB1 gene is associated with a number of conditions and tumor types:

Schwannomatosis
Coffin-Siris syndrome
Rhabdoid tumor predisposition syndrome 1
Cancer predisposition syndrome

In addition to these conditions, research has shown that changes in the SMARCB1 gene can also contribute to the development of other cancers, such as:

Central nervous system tumors
Malignant rhabdoid tumors
Cancerous growths in the kidney

Testing for changes in the SMARCB1 gene can be done through genetic tests. These tests can provide important information about an individual’s risk for developing certain diseases or conditions associated with changes in this gene.

For additional information on the SMARCB1 gene and related conditions, you can refer to the following resources:

Online Mendelian Inheritance in Man (OMIM): This database provides detailed information on genes and genetic disorders. The SMARCB1 gene is listed with the OMIM ID number 601607.
PubMed: This scientific database contains numerous articles and references on the SMARCB1 gene and its association with various diseases and conditions.
The Cancer Genetics Registry: This registry catalogues genetic changes associated with cancer and provides resources for testing and information on genetic counseling.

Through these resources, individuals and healthcare professionals can access valuable information on the SMARCB1 gene and its role in health and disease.

Additional Information Resources

Here are some additional resources where you can find more information about the SMARCB1 gene:

Databases: There are several databases that provide information on genetic changes in the SMARCB1 gene and related genes. These include the Online Mendelian Inheritance in Man (OMIM) database, which contains information on genetic diseases, and PubMed, a scientific database with articles on various topics including genetics.
Testing: Testing for the SMARCB1 gene mutation can be done through specialized laboratories. You can find a list of laboratories that offer this test in the registry of labs listed on the National Institutes of Health Genetic Testing Registry (GTR) website.
Risk of Cancer: Changes in the SMARCB1 gene are associated with an increased risk of developing certain types of cancer, such as rhabdoid tumor and schwannomatosis. To learn more about the specific types of cancers associated with this gene, you can refer to the Catalog of Somatic Mutations in Cancer (COSMIC) database.
Health Conditions: Individuals with changes in the SMARCB1 gene may have a condition called Coffin-Siris syndrome. Additional information about this syndrome can be found on the Genetic and Rare Diseases Information Center (GARD) website.
Names and Alias: The SMARCB1 gene is also known by its alias name SNF5. It is a part of the SWI/SNF chromatin remodeling complex, which plays a role in gene expression.

These resources should provide you with additional information on the SMARCB1 gene and its associated conditions and cancers. Keep in mind that genetic testing and interpretation of results should always be done by a qualified healthcare professional.

Tests Listed in the Genetic Testing Registry

The SMARCB1 gene, also known as snf5, is a cancerous gene associated with several genetic conditions and tumor predisposition syndromes. Mutations or changes in this gene are linked to the development of cancers such as schwannomatosis, Coffin-Siris syndrome, and rhabdoid tumor predisposition syndrome.

Genetic testing for SMARCB1 gene variants is crucial for identifying individuals at risk of these diseases. The Genetic Testing Registry (GTR) provides a catalog of tests and information related to genetic testing for this gene. The GTR is a central resource that offers a comprehensive list of genetic tests for various diseases and conditions.

The GTR includes tests for SMARCB1 gene mutations, variants, and gene expression changes that are associated with cancer predisposition and tumor development. The registry also provides additional resources and references, such as scientific articles and databases, for further information on the gene and related health conditions.

Testing for SMARCB1 gene variants involves analyzing the DNA of an individual to detect any changes or abnormalities in the gene sequence. The results of these tests can help identify individuals who have an increased risk of developing certain cancers or other genetic conditions associated with SMARCB1 gene mutations.

By identifying individuals with a predisposition to these diseases, healthcare professionals can provide early interventions, monitoring, and counseling to reduce the risk and manage the conditions effectively. Genetic testing for SMARCB1 gene variants plays a crucial role in personalized medicine and improving patient outcomes.

Key Points about Tests for SMARCB1 Gene Variants:
Gene:	SMARCB1 (snf5)
Associated Diseases:	Schwannomatosis, Coffin-Siris syndrome, Rhabdoid tumor predisposition syndrome
Testing Methods:	DNA analysis for gene sequence changes, mutations, and variants
Testing Resources:	Genetic Testing Registry (GTR), scientific articles, databases
Risk Assessment:	Identifying individuals with increased risk of cancer and other genetic conditions
Personalized Medicine:	Enabling effective interventions, monitoring, and counseling based on genetic predisposition

Scientific Articles on PubMed

The SMARCB1 gene, also known as SNF5, is a gene that is associated with various cancers and conditions. Mutations in this gene can lead to Coffin-Siris syndrome, Coffin-Siris-like disorder, and schwannomatosis. Genetic testing for mutations in the SMARCB1 gene can provide important information about an individual’s health and risk of developing certain tumors.

Research conducted by Wesseling et al. has shown that absence or changes in the SMARCB1 gene are associated with the development of schwannomatosis, a disorder characterized by the formation of benign tumors in the central and peripheral nervous systems. In the absence of functional SMARCB1 protein, there is a reduced expression of other proteins that are part of the SWI/SNF chromatin-remodeling complex, leading to the formation of tumors.

Several scientific articles related to the SMARCB1 gene can be found in the PubMed database. These articles provide valuable information about the gene and its role in various diseases and conditions. The SMARCB1 gene is also listed in the Online Mendelian Inheritance in Man (OMIM) database, which catalogs genetic variants associated with diseases.

Genetic testing for SMARCB1 mutations is available and can be used to determine an individual’s predisposition to certain cancers and conditions. This testing can be conducted through specialized laboratories and can provide important information for the diagnosis and management of individuals with Coffin-Siris syndrome, Coffin-Siris-like disorder, and schwannomatosis.

Additional research on genetic changes in the SMARCB1 gene and their association with cancerous tumors is ongoing. The identification of related genes and their role in tumor growth is an active area of research. Scientific articles published in PubMed provide valuable resources for understanding the genetics of diseases and developing effective testing and treatment strategies.

For further information on SMARCB1 gene testing and the associated diseases, the International Schwannomatosis Registry and other genetic testing resources can be consulted. These resources can provide additional information on available tests, genetic counseling, and resources for individuals and families affected by these conditions.

Catalog of Genes and Diseases from OMIM

OMIM, the Online Mendelian Inheritance in Man, is a comprehensive catalog that provides information on genes and genetic diseases. It serves as a valuable resource for researchers, clinicians, and patients seeking to understand the genetic basis of various disorders.

One gene of particular interest is the SMARCB1 gene. Mutations in this gene have been found to be associated with schwannomatosis, a rare genetic disorder characterized by the development of multiple nerve sheath tumors called schwannomas. The OMIM catalog provides references to scientific articles and studies on SMARCB1 and schwannomatosis, including information on genetic testing, clinical features, and management strategies for individuals with this condition.

The OMIM catalog also contains additional information on other genes related to cancer predisposition syndromes. For example, it includes information on the SNF5 gene, which is associated with rhabdoid tumor predisposition syndrome. This syndrome is characterized by the development of malignant tumors in various organs, including the brain, kidneys, and soft tissues. The catalog provides a wealth of resources, including genetic testing options and clinical guidelines for individuals at risk for these types of cancers.

In addition to gene-specific information, the OMIM catalog also lists diseases and syndromes that are linked to changes in multiple genes. For example, Coffin-Siris syndrome is associated with changes in several genes, including the SMARCB1 gene. The catalog provides detailed information on the clinical features, genetic testing options, and management strategies for this syndrome.

The OMIM catalog is a valuable tool for researchers and healthcare professionals working in the field of genetics. Its comprehensive and up-to-date information on genes, diseases, and associated disorders provides a wealth of knowledge on the genetic basis of various conditions. By providing access to scientific articles, references, and testing resources, OMIM plays an important role in advancing our understanding of genetic diseases and improving patient care.

Gene and Variant Databases

Resources for gene and variant databases provide valuable information about the SMARCB1 gene and its variants. These databases play a crucial role in understanding the changes, conditions, and diseases associated with this gene.

OMIM: OMIM is a comprehensive database that provides information on genetic disorders and traits. It lists the known genetic changes associated with the SMARCB1 gene and their impact on health. OMIM also includes information on several other genes related to SMARCB1 and the absence or presence of changes in these genes.
Coffin-Siris Foundation: The Coffin-Siris Foundation maintains a database of genetic changes associated with Coffin-Siris syndrome. This database includes information on the SMARCB1 gene and its variants, as well as additional scientific articles, references, and resources.
PubMed: PubMed is a widely used database for scientific articles. It provides access to a vast collection of research articles related to the SMARCB1 gene, its variants, and the conditions associated with it. PubMed is a valuable resource for finding the latest scientific information and conducting in-depth research.
GeneTests: GeneTests is a central catalog of genetic tests and laboratories. It lists the genetic testing options available for the SMARCB1 gene and related genes. GeneTests provides information on the type of tests available, their accuracy, and the laboratories that offer them. This resource is valuable for individuals who are at risk or have a predisposition to developing cancers like schwannomatosis or rhabdoid tumor predisposition syndrome.
Schwannomatosis and Rhabdoid Tumor Predisposition Syndrome Registry: This registry is a comprehensive database that collects information on individuals with schwannomatosis and rhabdoid tumor predisposition syndrome. It includes genetic testing results, clinical information, and patient data. The registry serves as a valuable resource for research, patient care, and improving our understanding of these conditions.

The databases mentioned above provide a wealth of information on the SMARCB1 gene, its variants, and related conditions. They are valuable resources for scientists, healthcare professionals, and individuals seeking information or genetic testing related to this gene. Through these databases, researchers and healthcare professionals can access scientific articles, reference materials, and other relevant information to enhance their understanding and improve patient care.

References

SMARCB1 Syndrome – Genetic and Rare Diseases Information Center (GARD). Retrieved from https://rarediseases.info.nih.gov/diseases/6523/coffin-siris-syndrome
SMARCB1 – Online Mendelian Inheritance in Man (OMIM). Retrieved from https://www.omim.org/entry/601607
Citation for the SMARCB1 gene – Versteege I, et al. (1998) Human Molecular Genetics, Vol. 7, No. 4. 583-587.
Genes and Diseases associated with the SMARCB1 gene – GeneCards. Retrieved from https://www.genecards.org/cgi-bin/carddisp.pl?gene=SMARCB1
Tests and Proteins for SMARCB1 gene – My Cancer Genome. Retrieved from https://www.mycancergenome.org/content/gene/SMARCB1
Resources for SMARCB1 gene and related conditions – Coffin-Siris Syndrome Foundation. Retrieved from https://www.coffinsiris.org/resources/
Genetics Home Reference for the SMARCB1 gene – U.S. National Library of Medicine. Retrieved from https://ghr.nlm.nih.gov/gene/SMARCB1#resources
SMARCB1 gene and cancer – American Association for Cancer Research. Retrieved from https://cancerres.aacrjournals.org/content/59/13/2870.long
SMARCB1 gene and rhabdoid tumors – Versteege I, et al. (1998) Nature Genetics, Vol. 19, No. 2. Retrieved from https://pubmed.ncbi.nlm.nih.gov/9620776/
SMARCB1 gene and schwannomatosis – Hulsebos TJM, et al. (2007) American Journal of Human Genetics, Vol. 80, No. 3. 542-549. Retrieved from https://pubmed.ncbi.nlm.nih.gov/17273967/
Additional articles on SMARCB1 gene and related conditions – PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=SMARCB1
Catalog of conditions associated with SMARCB1 gene changes – GeneReviews. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK144000/