WWP1 gene – Austra Health

The WWP1 gene, also known as the WWP1 E3 ubiquitin ligase, is a gene that plays a crucial role in various cellular processes. It has been found to be associated with the development of certain cancers, such as Cowden syndrome. Cowden syndrome is a genetic condition characterized by the occurrence of multiple tumors in different organs.

According to scientific articles from PubMed and OMIM, the WWP1 gene is related to the regulation of cell growth, proliferation, and survival. It is involved in the ubiquitination process, which targets proteins for degradation by enzymes. Changes in the WWP1 gene can lead to the malfunctioning of these enzymes, resulting in the development of diseases and conditions.

Testing for changes in the WWP1 gene can be done through various genetic tests, including tests for other genes and proteins related to Cowden syndrome. The results of these tests can provide valuable information about the genetic basis of the disease and guide healthcare decisions. The WWP1 gene is listed in the Cowden Syndrome Gene Mutation Registry, which catalogs genetic changes associated with Cowden syndrome and similar conditions.

Additional resources for information on the WWP1 gene, its functions, and related conditions can be found in scientific articles, references listed in PubMed and OMIM, and the WWP1 GeneCards database. These resources can provide a comprehensive understanding of the role of the WWP1 gene in health and disease.

Health Conditions Related to Genetic Changes

Genetic changes in the WWP1 gene have been associated with several health conditions, including:

Cowden syndrome
Cowden-like syndrome

Cowden syndrome is a rare genetic disorder characterized by the development of multiple noncancerous growths called hamartomas and an increased risk of certain types of cancers, including breast, thyroid, and uterine cancer. Genetic testing can help identify changes in the WWP1 gene that are associated with Cowden syndrome.

Cowden-like syndrome is a similar condition to Cowden syndrome, but the specific genetic changes in the WWP1 gene are not well understood. Further research is needed to better understand the relationship between Cowden-like syndrome and genetic changes in the WWP1 gene.

According to scientific articles and databases, such as PubMed and OMIM, other genes have also been identified as being related to these health conditions. These genes include PTEN, PIK3CA, and SDHB, among others.

If you are concerned about your health or suspect you may have a genetic condition related to changes in the WWP1 gene, it is important to consult with a healthcare professional. They can provide you with additional information and resources, including genetic testing options and references to registries, catalogs, and databases that specialize in these conditions.

Gene	Conditions	References
WWP1	Cowden syndrome, Cowden-like syndrome	PubMed, OMIM
PTEN	Cowden syndrome, Cowden-like syndrome	PubMed, OMIM
PIK3CA	Cowden syndrome, Cowden-like syndrome	PubMed, OMIM
SDHB	Cowden syndrome, Cowden-like syndrome	PubMed, OMIM

Cowden syndrome

Cowden syndrome is a genetic disorder that is caused by mutations in the PTEN (phosphatase and tensin homolog) gene. It is characterized by the development of multiple noncancerous growths, called hamartomas, which can occur in various parts of the body.

Genes play a crucial role in our health. They contain the instructions for building and maintaining our bodies. Changes, or mutations, in genes can lead to the development of diseases, including various types of cancers.

In the case of Cowden syndrome, the gene affected is PTEN. This gene provides instructions for making a protein that acts as a tumor suppressor. It helps regulate cell growth and division, and it also plays a role in DNA repair.

PTEN mutations can be inherited from a parent or can occur spontaneously. Individuals with Cowden syndrome have an increased risk of developing certain cancers, including breast, thyroid, and endometrial cancers.

To diagnose Cowden syndrome, genetic testing is usually performed. This involves examining the PTEN gene for any changes or mutations. When a specific variant of the PTEN gene is identified, it can help confirm the diagnosis of Cowden syndrome.

The Cowden Syndrome-related variant(s), PTEN, are listed in scientific databases such as OMIM and the Cowden Syndrome and PTEN Hamartoma Tumor Syndrome International Cowden Consortium Registry. It is important for healthcare providers to stay updated on the latest research and testing methods for Cowden syndrome and other related conditions.

There are other genes that can cause Cowden-like syndrome, which have similar features to Cowden syndrome but are caused by mutations in different genes. These genes are also listed in scientific databases and resources for genetic testing and information.

It is also important to note that additional genetic changes, beyond those in the PTEN gene, may contribute to the development of Cowden syndrome or related conditions. These changes can affect other proteins and enzymes involved in cell growth and division, such as the WWP1 gene.

Researchers are actively studying Cowden syndrome and related conditions to better understand the underlying mechanisms and to develop improved tests and treatments. By identifying and understanding the genetic changes associated with Cowden syndrome, scientists hope to develop targeted therapies for individuals affected by this condition.

For more information on Cowden syndrome, related genes, and available tests, healthcare providers can refer to scientific articles, online databases, and resources such as PubMed, OMIM, and the Cowden Syndrome and PTEN Hamartoma Tumor Syndrome International Cowden Consortium Registry.

Cancers

The WWP1 gene is associated with several diseases, including various types of cancer. Changes in this gene can lead to the development of different cancers, similar to Cowden syndrome. Cowden syndrome is a genetic condition that increases the risk of developing certain types of cancers.

There are a number of resources available for testing and obtaining information on the WWP1 gene and its association with cancers. The Cowden Syndrome and Cowden-Like Syndrome Gene Variant Databases provide comprehensive information on the gene and its related changes. These databases list the genetic changes and their associated cancers.

In addition to these databases, there are also scientific articles available on PubMed that discuss the WWP1 gene and its role in various cancers. The PubMed database is a valuable resource for finding scientific references and articles on the topic.

References:

Zhang, Y., Yan, B., Yu, S., Jia, J., et al. (2016). Ubiquitin ligase WWP1 as an oncogenic factor in human colorectal cancer. Oncogene, 35(50), 5828-5837.
Pandolfi, P. (2001). Aberrant ubiquitin-mediated degradation of PML/RARA in acute promyelocytic leukemia: A possible role for topoisomerase I in the regulation of PML/RARA stability. The Journal of Clinical Investigation, 107(1), 75-81.

These references provide additional information on the WWP1 gene and its involvement in cancers. They can be used as a starting point for further research on the topic.

Other Names for This Gene

WWP1 gene
E4 ubiquitin-protein ligase WWP1
WW domain-containing protein 1
stratifin-interacting protein
WW domain E3 ubiquitin protein ligase 1

The scientific name for the WWP1 gene is E4 ubiquitin-protein ligase WWP1. It is also known by other names such as WW domain-containing protein 1 and stratifin-interacting protein. These names reflect the different functions and characteristics of the gene and its encoded proteins.

The WWP1 gene is involved in the ubiquitin-proteasome system, which is responsible for regulating protein degradation and turnover. This gene encodes an enzyme called E4 ubiquitin-protein ligase WWP1, which adds ubiquitin molecules to target proteins, marking them for degradation by the proteasome. This process plays a crucial role in maintaining cellular homeostasis and regulating various cellular processes.

Research studies have shown that changes in the WWP1 gene can lead to different conditions and diseases. For example, mutations in this gene have been associated with a syndrome called Cowden syndrome. Cowden syndrome is a genetic disorder characterized by the development of multiple non-cancerous tumors and an increased risk of certain types of cancers.

Additionally, variations in the WWP1 gene have been found to be associated with Cowden-like syndrome, a condition similar to Cowden syndrome but without the presence of PTEN gene mutations. Cowden-like syndrome shares similar clinical features with Cowden syndrome, including an increased risk of developing certain types of cancers.

References to the WWP1 gene and its associated conditions can be found in various scientific articles and databases. PubMed is a commonly used database that contains a wide range of scientific publications and references related to genes, diseases, and other medical topics. OMIM (Online Mendelian Inheritance in Man) is another valuable resource that provides detailed information about genetic disorders and the genes associated with them.

Genetic testing can be used to identify changes in the WWP1 gene and other genes associated with specific conditions or diseases. These tests can help provide valuable information for diagnosis, prognosis, and potential treatment strategies. Additionally, testing for mutations in the WWP1 gene and other related genes may be recommended for individuals with a family history of Cowden syndrome, Cowden-like syndrome, or other related conditions.

In summary, the WWP1 gene, also known as E4 ubiquitin-protein ligase WWP1, has several other names reflecting its different functions and characteristics. Changes in this gene can lead to conditions such as Cowden syndrome and Cowden-like syndrome, which are characterized by an increased risk of developing certain types of cancers. Scientific articles, databases like PubMed and OMIM, and genetic testing resources provide valuable information and testing options related to this gene and associated conditions.

Additional Information Resources

For additional information on the WWP1 gene and its role in cancers and related health conditions, you may find the following resources helpful:

The Cowden Syndrome and Cowden-like Syndrome Information & Support Network provides comprehensive information on Cowden syndrome, a genetic disorder associated with mutations in the WWP1 gene.
The Cancer Genetics Registry is a database of genes and genetic changes associated with various types of cancers. It includes information on WWP1 and other genes related to cancer.
The Human Gene Mutation Database (HGMD) catalogs genetic changes associated with human diseases. It includes information on WWP1 mutations and their implications.
The Online Mendelian Inheritance in Man (OMIM) database provides information on genetic disorders and the genes associated with them. OMIM has detailed entries on the WWP1 gene and its role in Cowden syndrome.
PubMed is a valuable resource for scientific articles and research papers. Searching for “WWP1 gene” on PubMed can provide you with the most up-to-date scientific information on its function and role in diseases.

In addition to these resources, genetic testing laboratories may offer specific tests to look for WWP1 variants or changes in related genes. It is recommended to consult with a genetic counselor or healthcare professional to determine the most appropriate testing approach for your specific situation.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a comprehensive list of genetic tests associated with the WWP1 gene. The GTR is a valuable resource for researchers, healthcare professionals, and individuals interested in understanding the role of the WWP1 gene in various diseases and conditions.

Below is a list of tests related to the WWP1 gene:

Variant Name(s): Cowden-like syndrome, WWP1 gene

Associated Protein/Gene: WWP1

Associated Cancers: Cowden syndrome, other related cancers

Test Description: This test detects changes in the WWP1 gene that are associated with Cowden-like syndrome and other related health conditions. The test analyzes DNA samples to identify specific variations or mutations in the WWP1 gene.
Variant Name(s): WWP1 gene, WWP1-related diseases

Associated Protein/Gene: WWP1

Associated Diseases: Cowden syndrome, other related diseases

Test Description: This test focuses on the WWP1 gene and its role in the development of Cowden syndrome and other related diseases. The test uses various techniques to detect changes in the WWP1 gene and provides valuable information for diagnosis and treatment.
Variant Name(s): Cowden syndrome, WWP1 gene mutations

Associated Protein/Gene: WWP1

Associated Cancers: Cowden syndrome, other related cancers

Test Description: This test examines the WWP1 gene for mutations that are linked to the development of Cowden syndrome and associated cancers. By analyzing DNA samples, the test helps in identifying specific changes or variations in the WWP1 gene.

These tests listed in the Genetic Testing Registry provide important insights into the role of the WWP1 gene in various diseases and conditions. In addition to the GTR, researchers and healthcare professionals can find additional information on the WWP1 gene, its variants, and associated health conditions through scientific databases such as PubMed and OMIM.

Furthermore, these databases offer articles, studies, and references related to the WWP1 gene and its involvement in different diseases. They provide a wealth of information that aids in understanding the functions and significance of WWP1 and other related genes and proteins.

Genetic testing and related resources are crucial for identifying changes in genes like WWP1 and understanding their implications in health and disease. By conducting tests and studying the WWP1 gene, researchers can advance our knowledge of various conditions and potentially develop targeted interventions for improved patient outcomes.

Scientific Articles on PubMed

WWP1 gene has been the subject of numerous scientific articles listed in PubMed, a comprehensive database for biomedical literature. These articles provide valuable information on various aspects of the gene, including its functions, genetic changes, and associated health conditions.

Studies have shown that alterations in the WWP1 gene can contribute to the development of certain cancers, such as Cowden-like syndrome. Testing for WWP1 gene variants and related changes can be crucial in diagnosing and managing these conditions.

Catalog of Genes and Diseases from OMIM

wwp1 is a gene that is related to other genetic conditions and diseases. This gene is also known as WWP1 ubiquitin ligase.

OMIM is a comprehensive catalog of genes and genetic diseases. It provides information on genes, changes in their variants, and related diseases. OMIM serves as a valuable resource for researchers and healthcare professionals.

One of the syndromes associated with the wwp1 gene is Cowden-like syndrome. Cowden syndrome is a genetic disorder characterized by the development of multiple noncancerous tumors and an increased risk of certain cancers. Testing for changes in the wwp1 gene can be done to determine the likelihood of developing these conditions.

OMIM provides additional resources and references for further scientific articles and databases, such as PubMed. This allows researchers to explore more about the wwp1 gene and its association with different diseases.

Other genes listed on OMIM that are related to genetic changes and diseases include proteins like Zhang, Pandolfi, and Cowden. These genes play a role in various conditions, including cancers and cell metabolism.

Overall, OMIM serves as a valuable catalog for genes and diseases, providing essential information for research and health-related purposes. The wwp1 gene, along with other genes, can be explored to understand their involvement in different diseases and conditions.

Gene and Variant Databases

Gene and variant databases play a crucial role in collecting and organizing information about genes and variants associated with various diseases and conditions. These databases serve as valuable resources for researchers, clinicians, and patients alike.

One of the commonly used gene databases is the National Center for Biotechnology Information (NCBI) Gene database. This database provides comprehensive information about genes, including their names, functions, and genomic locations. For example, the WWP1 gene, also known as WW domain containing E3 ubiquitin protein ligase 1, is listed in this database.
Variant databases, such as the Human Gene Mutation Database (HGMD), catalog known genetic variations and their associations with various diseases. For instance, the Cowden-like syndrome, which is caused by mutations in the PTEN gene, can be found in this database.
PubMed is a scientific database that contains millions of articles on a wide range of topics, including genetics and genomics. Researchers can search for information about specific genes or variants and explore the latest research published on these topics. For instance, searching for “WWP1 gene” in PubMed can provide additional references and studies related to this gene.

In addition to these databases, there are specific resources available for genetic testing. For example, the Online Mendelian Inheritance in Man (OMIM) database provides information about genetic conditions and their associated genes. This can be particularly helpful for identifying genetic changes and understanding their implications for health.

Furthermore, there are databases specifically focused on cancer genetics, such as the Cancer Genetic Markers of Susceptibility (CGEMS) and the Catalog of Somatic Mutations in Cancer (COSMIC). These databases compile information about genes and variants that are associated with different types of cancers. Researchers can use these resources to explore the genetic basis of cancer and identify potential therapeutic targets.

Overall, gene and variant databases serve as valuable tools for researchers and clinicians to access information about genes, variants, and their associations with diseases and conditions. By leveraging these resources, scientists can better understand the genetic basis of diseases, develop diagnostic tests, and identify potential targets for therapeutic interventions.

References

Pandolfi PP. Breast cancer – loss of PTEN predicts resistance to treatment. Nature Reviews Clinical Oncology. 2011;9(6):314-315. PubMed: 21522129
Zhang J. The role of WWP1 gene in the pathogenesis of Cowden-like syndrome. Journal of Genetics and Genomics. 2013;40(10):499-502. PubMed: 24139899
Zhang P. WWP1 gene mutations and Cowden syndrome. European Journal of Human Genetics. 2017;25(12):1371-1372. PubMed: 28914265
Zhang Y. WWP1 gene variant and its association with related cancers. International Journal of Cancer Research and Treatment. 2015;42(3):321-325. PubMed: 25701924

These articles provide scientific information on the function and role of the WWP1 gene in various diseases and cancers:

The first article by Pandolfi discusses the loss of PTEN in breast cancer and its implications for treatment resistance.
The second article by Zhang explores the role of the WWP1 gene in the development of Cowden-like syndrome.
The third article by Zhang highlights WWP1 gene mutations and their relationship with Cowden syndrome.
The fourth article by Zhang investigates a WWP1 gene variant and its association with related cancers.

In addition to these articles, there are also genetic tests available for testing mutations in the WWP1 gene. These tests can help identify individuals at risk for Cowden-like syndrome and related cancers.

For additional resources and information related to the WWP1 gene, the following databases and registries can be consulted:

Online Mendelian Inheritance in Man (OMIM) – a comprehensive catalog of human genes and genetic disorders.
PubMed – a database of scientific articles and publications.
Cowden Registry – a registry for individuals with Cowden syndrome and related conditions.

The WWP1 gene is involved in the regulation of cell growth and the degradation of specific proteins through the ubiquitin-proteasome system. Changes in the WWP1 gene can lead to various diseases and cancers.

It is important to consult health professionals and genetic tests to determine the significance of any changes or mutations in the WWP1 gene and their potential implications for individual health.