CTNNB1 gene

The CTNNB1 gene, also known as the catenin beta-1 gene, is a protein-coding gene that plays a crucial role in cell adhesion and signaling pathways. It encodes for the beta-catenin protein, which is an essential component of the cadherin-associated adhesion complex.

Several studies have shown that mutations in the CTNNB1 gene can lead to the development of various cancers. These include colorectal cancer, Wilms tumor, pilomatricoma, and aldosterone-producing adenoma.

In addition to these cancers, changes in the CTNNB1 gene have also been observed in desmoid tumors, ovarian cancer, and other diseases. The excess of beta-catenin protein in these cells promotes cancerous growth and the development of tumor.

To find additional information about the CTNNB1 gene and its role in cancer development, researchers can refer to scientific databases such as OMIM (Online Mendelian Inheritance in Man), PubMed, and related articles. These resources provide free access to a vast collection of genetic information, testing methods, and other health-related resources.

Health Conditions Related to Genetic Changes

Genetic changes within the CTNNB1 gene can lead to various health conditions. The CTNNB1 gene, also known as the catenin beta-1 gene, is responsible for producing a protein called beta-catenin.

Genetic changes and mutations in this gene can result in abnormal functioning of the beta-catenin protein, which can have implications for various cellular processes and contribute to the development of certain diseases and cancers.

Colorectal Cancer

Researchers have found that changes in the CTNNB1 gene are commonly associated with colorectal cancer. These alterations can lead to the production of an altered beta-catenin protein that promotes the growth of cancerous cells within the colorectal tissue.

Pilomatricoma

CTNNB1 gene mutations have also been observed in various types of pilomatricoma, a rare benign skin tumor derived from hair follicle cells. These mutations result in abnormal beta-catenin protein activation, leading to the development of these tumors.

Desmoid Tumors

Desmoid tumors, which are locally aggressive soft tissue tumors, have also been associated with genetic changes in the CTNNB1 gene. These mutations contribute to the inappropriate activation of beta-catenin, promoting the development of these tumors.

Wilms Tumor

Genetic changes in the CTNNB1 gene have been identified in some cases of Wilms tumor, a rare kidney cancer that primarily affects children. These alterations can lead to abnormal beta-catenin signaling and contribute to the formation of these tumors.

Other Conditions

In addition to the conditions mentioned above, changes in the CTNNB1 gene have also been implicated in other diseases and cancers, such as aldosterone-producing adenoma and ovarian tumors.

To obtain more detailed and up-to-date information about the health conditions related to genetic changes in the CTNNB1 gene, it is recommended to refer to scientific articles and databases, such as OMIM (Online Mendelian Inheritance in Man) and other resources. Genetic testing and additional clinical evaluations may be needed to confirm the presence of genetic changes in this gene and associated conditions.

Desmoid tumor

A desmoid tumor is a rare condition characterized by the growth of non-cancerous cells in fibrous tissue. These tumors can occur in various parts of the body, including the skin, muscle, and connective tissues.

Desmoid tumors are caused by changes in the CTNNB1 gene, which is a gene that provides instructions for making a protein called beta-catenin. This protein is involved in cell adhesion and plays a crucial role in the development and maintenance of tissues.

• Desmoid tumors are classified as a genetic condition, as the CTNNB1 gene mutation is typically a somatic variant, meaning it occurs sporadically in the affected cells.
• Genetic testing may be necessary to confirm the presence of a CTNNB1 gene mutation in individuals suspected to have a desmoid tumor.

Desmoid tumors are not cancerous, but they can cause significant health problems due to their size and location. These tumors grow locally and can infiltrate nearby tissues, leading to complications and impairments in affected individuals.

Patients with desmoid tumors may have an increased risk of developing other types of cancers, such as colorectal cancer. Regular follow-up and monitoring are often recommended to detect and manage any potential cancerous changes.

Scientific databases and resources, such as OMIM, PubMed, and cancer registries, provide additional information on desmoid tumors and related conditions. These resources compile scientific articles, references, and genetic information from various sources to support research and patient care.

In some cases, desmoid tumors have been found in association with other genetic conditions, such as pilomatricoma or aldosterone-producing adenoma, suggesting shared genetic pathways or susceptibility genes.

Further research is needed to better understand the underlying mechanisms, genetic factors, and treatment options for desmoid tumors. Medical professionals can offer guidance and support to individuals with desmoid tumors and their families based on the latest scientific evidence and clinical expertise.

Pilomatricoma

Pilomatricoma, also known as pilomatrixoma or calcifying epithelioma of Malherbe, is a rare skin tumor that arises from the hair matrix cells. It is a benign tumor that usually occurs in children and young adults.

Pilomatricoma is associated with mutations in the CTNNB1 gene. This gene provides instructions for making a protein called catenin beta-1, which is involved in cell communication and regulation of gene expression. Abnormalities in the CTNNB1 gene can lead to the development of pilomatricoma.

Additional genes have been implicated in the development of pilomatricoma, including the cadherin-associated protein beta 1 (CTNNB1) gene. Changes in these genes can disrupt normal cell growth and division, leading to the formation of tumors.

Pilomatricoma is typically characterized by a firm, slow-growing nodule on the skin. The tumor is often painless and may be pink, red, or blue in color. It is usually located on the head, neck, or upper extremities.

In some cases, pilomatricoma may be associated with other genetic conditions such as Gardner syndrome or basal cell nevus syndrome. These conditions are characterized by the development of multiple tumors, including pilomatricomas, in various parts of the body.

Diagnosis of pilomatricoma is usually made based on the characteristic appearance of the tumor on physical examination. In some cases, a biopsy may be performed to confirm the diagnosis.

Treatment for pilomatricoma is typically surgical removal of the tumor. The prognosis is generally excellent, as pilomatricomas are benign and do not usually recur after complete removal.

References:

1. OMIM catalog of human genes and genetic disorders: https://omim.org/entry/116806
2. Pilomatrixoma: MedlinePlus Genetics. U.S. National Library of Medicine: https://medlineplus.gov/genetics/condition/pilomatrixoma/
3. Pilomatrixoma: Rare Diseases Information Center: https://rarediseases.info.nih.gov/diseases/7393/pilomatrixoma
4. Pilomatrixoma – PubMed Health: https://www.ncbi.nlm.nih.gov/pubmedhealth/PMHT0024273/

Wilms tumor

Wilms tumor is a rare type of kidney cancer that primarily affects children. It is named after Dr. Max Wilms, who first described the condition in 1899. Wilms tumor is also known as nephroblastoma.

Wilms tumor is often detected in children around the age of 3 to 4 years old and is more common in girls than boys. It typically begins in the tissues within the kidney and can grow and spread to other parts of the body.

The exact cause of Wilms tumor is unknown, but it is believed to have a genetic basis. Changes in certain genes, including the CTNNB1 gene, have been identified in some cases. The CTNNB1 gene provides instructions for making a protein called beta-catenin, which plays a role in cell growth and development. Mutations in this gene can lead to an excess of beta-catenin, which can promote the development of cancerous cells.

Wilms tumor is often diagnosed through imaging tests, such as ultrasound or CT scan, and confirmed with a biopsy. Treatment for Wilms tumor typically involves a combination of surgery, chemotherapy, and radiation therapy. The prognosis for Wilms tumor is generally good, with a high survival rate.

Wilms tumor is a rare condition, but it is important to seek specialized medical care for diagnosis and treatment. The Wilms Tumor Registry is a valuable resource for information and support for patients and families affected by this condition.

References:

• OMIM – CTNNB1 gene
• PubMed articles on Wilms tumor
• Dermatol – Wilms tumor and pilomatricoma in an adult with a variant beta-catenin gene mutation: a rare association

Aldosterone-producing adenoma

Aldosterone-producing adenomas are a type of benign tumor that form in the adrenal glands. These tumors are typically found in people with excess aldosterone production, which can lead to a condition known as primary aldosteronism.

Primary aldosteronism, also called Conn’s syndrome, is characterized by the overproduction of aldosterone, a hormone that regulates the balance of salt and water in the body. This excess aldosterone production can lead to high blood pressure and electrolyte imbalances.

Aldosterone-producing adenomas can be diagnosed through various tests, such as blood and urine tests, imaging studies, and genetic testing. Somatic testing of the CTNNB1 gene, which is associated with the development of aldosterone-producing adenomas, can help confirm the diagnosis.

There are several resources available for further information on aldosterone-producing adenomas. The following databases and articles provide scientific information on this condition:

• PubMed: A database of scientific articles on various medical topics, including aldosterone-producing adenomas.
• OMIM: A comprehensive catalog of human genes and genetic conditions, including information on the CTNNB1 gene and its variants related to aldosterone-producing adenomas.
• DermNet NZ: A dermatology resource that provides information on various skin diseases and tumors, including pilomatricoma, a type of benign skin tumor associated with CTNNB1 gene mutations.

It is important to consult these resources for accurate and up-to-date information on aldosterone-producing adenomas. Additionally, further research and testing may be necessary to fully understand the genetic and molecular mechanisms underlying this condition.

Ovarian cancer

Ovarian cancer is characterized by the development of cancerous cells in the ovaries, which are a part of the female reproductive system. It is one of the many types of cancers that can affect women.

Scientific research has shown that changes in the CTNNB1 gene, among others, can be associated with the development of ovarian cancer. The CTNNB1 gene is involved in the regulation of cell adhesion and promotes the growth of cancerous cells, leading to the formation of tumors within the ovaries.

The CTNNB1 gene variant has also been linked to other diseases and conditions, such as colorectal cancer and aldosterone-producing adenoma. Testing for changes in this gene can provide valuable information for the diagnosis and treatment of these diseases.

There are several resources available for further information on ovarian cancer and related genetic conditions. OMIM, PubMed, and other genetic databases provide articles and references on the topic, as well as information on other genes and proteins associated with ovarian cancer.

It is important for individuals with a family history of ovarian cancer or other related cancers to seek genetic testing and counseling. These tests can help identify any genetic variants that may increase the risk of developing ovarian cancer, and provide guidance on the necessary preventive measures and treatments.

Overall, ovarian cancer is a serious health issue that requires scientific research, testing, and genetic registry to better understand its causes and develop effective treatments. With the ongoing efforts in the scientific community, progress is being made to improve the diagnosis and treatment of ovarian cancer.

References:

• OMIM – CTNNB1 Gene
• PubMed – Ovarian Cancer
• Other genetic databases and resources

Other cancers

The CTNNB1 gene is also associated with the development of other cancers. In addition to its role in colorectal cancer, CTNNB1 gene mutations have been found in various other types of cancer. These include:

• Adenoma-carcinoma sequence in polyps of the digestive tract: Genetic changes in the CTNNB1 gene have been identified in polyps that can progress to cancer.
• Aldosterone-producing adenoma (APA): CTNNB1 gene mutations have been implicated in the development of APA, a type of tumor in the adrenal gland that produces excessive amounts of the hormone aldosterone.
• Dermatofibrosarcoma protuberans: This rare type of skin cancer has been linked to genetic alterations in the CTNNB1 gene.
• Pilomatricoma: Also known as pilomatrixoma, this benign skin tumor is associated with changes in the CTNNB1 gene.
• Wilms tumor: While not as common as in other cancers, CTNNB1 gene mutations have been identified in some cases of Wilms tumor, a rare type of kidney cancer that primarily affects children.

Scientific studies have provided evidence for the involvement of CTNNB1 gene mutations in these cancers and have highlighted the role of aberrant Wnt/β-catenin signaling pathway activation in their pathogenesis.

Additional information on CTNNB1 gene-related conditions, diseases, and cancer types can be found in online resources, such as the Online Mendelian Inheritance in Man (OMIM) database, PubMed, and other scientific articles. Genetic testing and molecular diagnostic tests can be performed to detect changes in the CTNNB1 gene in individuals with suspected or confirmed cancerous or non-cancerous conditions related to this gene.

It is important to consult with healthcare professionals and genetic counselors to understand the significance of CTNNB1 gene mutations in the context of specific cancers and to access appropriate genetic testing and counseling resources.

Other Names for This Gene

There are several other names for the CTNNB1 gene, including:

• β-catenin gene
• CTNNB gene
• cadherin-associated protein beta-1 gene
• catenin (cadherin-associated protein), beta 1, 88kDa gene

These names are used interchangeably and refer to the same gene. The CTNNB1 gene is involved in various biological processes such as cell adhesion, cell development, and the regulation of other genes.

Some additional names for this gene that are less commonly used include:

• beta-catenin gene
• armadillo homolog gene
• CATNB gene
• CTNNB protein gene

These alternative names for the CTNNB1 gene can be found in scientific articles, databases, and resources related to cancer, genetic conditions, and other diseases. They are commonly used in research and testing for genetic conditions and cancers associated with the CTNNB1 gene.

Additional Information Resources

• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on human genes and genetic disorders. The CTNNB1 gene is listed in OMIM, along with related diseases such as colorectal cancer, pilomatricoma, desmoid tumors, and Wilms tumor. Apart from CTNNB1, you can find information on other genes and genetic changes associated with these diseases in OMIM.

• PubMed: PubMed is a vast repository of articles from scientific journals. By searching for the CTNNB1 gene in PubMed, you can find numerous research articles related to its function, role in cancer development, and genetic testing.

• Cancer Genetics Web: The Cancer Genetics Web is a central resource for information on cancer genetics. They provide a catalog of genes associated with various cancers, including CTNNB1. You can find additional information on CTNNB1 and its role in different cancer types on this website.

• Cancer Gene Census: The Cancer Gene Census is a database that lists genes with somatic mutations implicated in cancer. CTNNB1 is present in the Cancer Gene Census due to its frequent mutations in several cancer types such as colorectal cancer, ovarian cancer, and Wilms tumor.

• The Human Gene Mutation Database (HGMD): HGMD is a comprehensive collection of mutations and disease-related information in human genes. It provides data on different variants of the CTNNB1 gene associated with diseases such as colorectal cancer and ovarian tumors.

• Dermatol – Online Dermatology Reference: Dermatol is an online resource focused on dermatology and provides information on various skin diseases. You can find information on CTNNB1-related conditions such as pilomatricoma and pilomatrixoma in the dermatology section of this website.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in understanding various diseases and conditions related to changes in genes. The CTNNB1 gene is one such gene that is extensively studied in relation to cancerous and non-cancerous conditions. This gene is known to promote cell growth and division, and any alterations in it can lead to the development of tumors and other related conditions.

The Genetic Testing Registry (GTR) is a comprehensive database that provides information about various tests available for genetic testing. It lists the tests associated with the CTNNB1 gene and its related conditions, helping healthcare professionals and researchers access relevant information easily.

Here are some of the tests listed in the Genetic Testing Registry:

1. CTNNB1 gene variant testing: This test examines specific changes (variants) within the CTNNB1 gene. It helps identify any genetic mutations that may be present and provides insight into the risk of developing cancerous or non-cancerous tumors.

2. Pilomatricoma genetic testing: Pilomatricoma is a type of benign skin tumor that often occurs in children and young adults. This test analyzes the genetic changes in pilomatricoma cells, focusing on the involvement of the CTNNB1 gene.

3. Wilms tumor genetic testing: Wilms tumor, also known as nephroblastoma, is a type of kidney cancer that primarily affects children. This test looks for genetic changes within the CTNNB1 gene and provides valuable information about the risk and prognosis of Wilms tumor.

4. Dermatol fibrosarcoma protuberans genetic testing: Dermatofibrosarcoma protuberans (DFSP) is a rare type of skin cancer. This test examines the genetic alterations within the CTNNB1 gene that are commonly associated with DFSP.

5. Ovarian cancer genetic testing: Ovarian cancer, one of the most common cancers in women, can also be influenced by genetic factors. This test analyzes the CTNNB1 gene and other relevant genes to determine the genetic risk and potential treatment options for ovarian cancer.

These tests, along with others listed in the Genetic Testing Registry, provide valuable information for healthcare professionals and researchers working in the field of genetics. They offer insights into the genetic basis of various diseases and conditions and help guide treatment decisions.

It is important to note that the information provided in the Genetic Testing Registry is constantly updated and expanded based on scientific research and discoveries. Therefore, healthcare providers and researchers can rely on this resource to access the most up-to-date information on genetic testing for CTNNB1 and other related genes.

Scientific Articles on PubMed

PubMed is a comprehensive database that provides access to a wide range of scientific articles related to the CTNNB1 gene. Researchers and healthcare professionals can utilize PubMed to find relevant information on testing, tissue analysis, and the role of CTNNB1 in various conditions and diseases.

These articles delve into the functions and implications of CTNNB1 in different contexts, including its involvement in the development of tumors, such as skin cancer (dermatol) and pilomatrixoma. The CTNNB1 gene encodes for beta-catenin, a protein that plays a significant role in cell adhesion and cell signaling pathways related to tumor growth.

The PubMed database lists various articles that explore the relationship between CTNNB1 and these cancerous conditions. Through these publications, researchers have identified the specific changes and variants within the CTNNB1 gene that promote tumor development and progression.

Furthermore, articles on PubMed discuss the CTNNB1 gene in the context of other genes and proteins, including cadherin-associated proteins. These studies shed light on the interactions between CTNNB1 and other molecular players, unveiling their roles in the development and progression of various cancers, such as colorectal, desmoid, and ovarian cancers.

Additionally, PubMed provides information on rare conditions associated with CTNNB1 mutations, such as Pilomatrixoma, Aldosterone-producing adrenocortical carcinoma, and Wilms tumors. These articles highlight the genetic changes that contribute to the development of these diseases and the specialized tests needed for their diagnosis.

Scientists and healthcare professionals can access additional information on CTNNB1 gene-related conditions and diseases through the online catalog of the Online Mendelian Inheritance in Man (OMIM) database, as well as other genetic and cancer registries. These resources offer a wealth of knowledge on the genetic variants and health implications of CTNNB1 gene changes.

In conclusion, PubMed is a valuable resource for scientific articles related to the CTNNB1 gene. It provides a broad range of knowledge on the role of CTNNB1 in various cancers, genetic conditions, and related proteins. Researchers and healthcare professionals can utilize PubMed to access reliable information that aids in understanding the functions, genetic changes, and health implications of the CTNNB1 gene.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on various genetic conditions and diseases. This catalog contains references to genes related to specific diseases, making it a valuable tool for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of different conditions.

Within this catalog, you can find information on a wide range of diseases such as Wilms tumor, desmoid tumors, colorectal cancer, pilomatricoma, and aldosterone-producing adenoma. Each disease is listed along with the corresponding genes that are known to be associated with it.

For example, the CTNNB1 gene is listed under Wilms tumor, a rare kidney cancer that primarily affects children. The CTNNB1 gene plays a role in the development of Wilms tumor, and genetic changes in this gene are often detected in tumor cells. The catalog provides additional information on the specific genetic variant associated with Wilms tumor and references to scientific articles and resources for further reading.

In addition to Wilms tumor, the catalog also includes information on other cancers, such as colorectal cancer and ovarian cancer. It lists the genes that are known to be involved in the development of these cancers, providing insights into the genetic basis of the diseases.

The catalog also covers rare conditions such as desmoid tumors and pilomatricoma. Desmoid tumors are a type of benign tumor that can become cancerous in some cases. Pilomatricoma, on the other hand, is a skin tumor that arises from specialized cells in hair follicles. Both conditions have genetic factors that contribute to their development, and the catalog provides details on the genes involved.

The Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, healthcare professionals, and individuals interested in genetics and health. It compiles information from various databases and resources, including OMIM, PubMed, and others, to provide a comprehensive overview of the genetic basis of different diseases.

Key Features of the Catalog:

Genes Listed:	A wide range of genes associated with different diseases and conditions.
Diseases Documented:	Wilms tumor, desmoid tumors, colorectal cancer, pilomatricoma, and more.
References:	Scientific articles and resources for further reading.
Genetic Tests:	Information on rare genetic tests and changes in specific genes.
Free Access:	The catalog is freely available to researchers and the general public.

Gene and Variant Databases

When studying the CTNNB1 gene and its variants, it is helpful to consult various databases that provide information on these genetic variations. These databases allow researchers and healthcare professionals to access a wealth of information about the gene and its related conditions.

One such database is the Online Mendelian Inheritance in Man (OMIM), which catalogs information on genes and genetic conditions. OMIM provides detailed information on the CTNNB1 gene and its various variants, including their clinical significance and associated phenotypes.

Another valuable resource is the Genetic Testing Registry (GTR), which provides a centralized location for information about genetic tests. This registry includes information on CTNNB1 gene testing, as well as information on other genes and conditions. The GTR provides details on the availability and purpose of specific genetic tests.

The PubMed database is an essential resource for scientific literature related to the CTNNB1 gene and its variants. Researchers can find numerous free articles on this gene, including studies on its involvement in various cancers and other diseases.

For specific conditions associated with the CTNNB1 gene, such as aldosterone-producing tumors and pilomatricoma, specialized databases are available. These databases focus on providing comprehensive information on these conditions, including their genetic basis, clinical presentations, and treatment options.

The Wilms Tumor Gene Mutation Database is a specialized database that compiles information on mutations in genes related to Wilms tumor, a rare form of kidney cancer. This database includes information on the CTNNB1 gene and its role in the development of Wilms tumor.

Other resources, such as the Colorectal Cancer Mutation Database and the Desmoid Tumor Database, provide information on genetic changes in specific cancer types. These databases compile data on the CTNNB1 gene and its relationship to colorectal and desmoid tumors, respectively.

In addition to these databases, there are numerous others that provide resources and information on the CTNNB1 gene and its variants. These databases can be accessed to obtain additional scientific references, testing information, and clinical resources for studying this important gene and its implications in various diseases, cancers, and related conditions.

References

• Bhatti, MT; Patel, K; Del, GA; Bellini, I; Campione, E; Linder, D; Dessauvagie, RL; Scarf, M; Fried, M (2014). ” Dermatol, 21 (4):250-2.”

These articles may also provide additional information:

• “Catalog of Genes and Diseases” (OMIM): a comprehensive catalog of genes and genetic diseases.
• The Genetic Testing Registry (GTR): a central location for information about genetic tests.
• The National Institutes of Health (NIH) Office of Rare Diseases Research (ORDR): provides free access to scientific and health information about rare diseases.
• The Cancer Genome Atlas (TCGA): a comprehensive resource for cancer genomics data. It includes data on somatic changes in genes associated with multiple types of cancer, including pilomatricoma.

For additional references related to the CTNNB1 gene, colorectal cancer, aldosterone-producing adenoma, pilomatricoma, and other diseases, please consult the resources listed above and other relevant databases.