Cowden syndrome, also known as PTEN Hamartoma Tumor Syndrome (PHTS), is a rare genetic disorder that is inherited in an autosomal dominant manner. This means that individuals with Cowden syndrome have a 50% chance of passing the condition on to their children. It is caused by mutations in the PTEN gene, which is a tumor suppressor gene. These mutations can lead to the formation of hamartomas, which are noncancerous growths, and an increased risk of certain types of cancers.
Patients with Cowden syndrome often have a variety of clinical features, including multiple hamartomas, as well as an increased risk of breast, thyroid, and other cancers. The percentage of individuals with Cowden syndrome who develop these cancers is higher than in the general population. Research has identified additional genes associated with Cowden syndrome, such as the KLLN gene, which provides more information about the genetic causes of this condition.
Cowden syndrome is often diagnosed based on a combination of clinical features and genetic testing. Testing for mutations in the PTEN gene and other genes associated with Cowden syndrome can help confirm a diagnosis and inform patient management. The frequency of Cowden syndrome in the general population is estimated to be 1 in 200,000 to 250,000. However, the true prevalence may be higher, as many cases go undiagnosed or are misdiagnosed.
Support and resources are available for individuals and families affected by Cowden syndrome. Advocacy organizations and patient support groups provide information and assistance, and there are ongoing research studies and clinical trials that aim to improve understanding and treatment of Cowden syndrome. More information about Cowden syndrome can be found on websites such as the Genetic and Rare Diseases Information Center (GARD), OMIM, and PubMed.
Frequency
The frequency of Cowden syndrome in the general population is currently unknown. However, studies have shown that the estimated prevalence of pathogenic PTEN gene variants in patients with Cowden syndrome range from 1 in 200,000 to 1 in 250,000.
Research conducted by Ngeow et al. found that approximately 10% of patients with Cowden syndrome-like features who tested negative for PTEN gene variants may have other gene mutations that are responsible for their condition.
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It is important to note that Cowden syndrome is a rare condition. As a result, it is often underdiagnosed or misdiagnosed. The frequency of Cowden-like syndromes, which share similar features with Cowden syndrome but have different causative genes, is more difficult to determine due to their rarity.
Additional studies are needed to learn more about the frequency of Cowden syndrome and other related syndromes. The National Center for Biotechnology Information’s OMIM database and the Genetic and Rare Diseases Information Center may provide more information and resources on this condition.
Causes
Cowden syndrome is caused by mutations in the PTEN gene. These mutations are typically inherited in an autosomal dominant manner, meaning that a mutation in one copy of the gene is sufficient to cause the syndrome. In some cases, individuals may have a different condition called PTEN-opathies or Cowden-like syndrome, which are caused by mutations in other genes related to the PTEN pathway.
The PTEN gene is a tumor suppressor gene that helps regulate cell growth and division. Mutations in this gene result in a gain-of-function effect, leading to the development of multiple tumors and other features associated with Cowden syndrome.
Cowden syndrome is a rare condition, with an estimated frequency of 1 in 20,000 individuals. It is often diagnosed based on clinical features, but genetic testing can confirm the diagnosis in some cases.
Research on Cowden syndrome and related conditions is ongoing, and there are several advocacy organizations and patient support groups that provide information and resources for individuals and families affected by the syndrome. Some of these resources include the PTEN Research Foundation, the Cowden Syndrome and PTEN Hamartoma Tumor Syndrome Foundation, and the Genetic and Rare Diseases Information Center.
Additional information about the genes associated with Cowden syndrome and related conditions can be found in scientific articles and databases such as PubMed, OMIM, and the Catalog of Genes and Diseases.
Learn more about the genes associated with Cowden syndrome
Cowden syndrome is a rare genetic condition that is characterized by the development of multiple hamartomas and an increased risk of certain cancers. It is caused by germline mutations in genes that regulate cell growth and division.
Within the Cowden syndrome genetic condition, several genes have been identified as being associated with the syndrome. The most common gene mutation found in Cowden syndrome is in the PTEN gene. PTEN mutations account for approximately 80% of all cases of Cowden syndrome.
In addition to PTEN, other genes that have been associated with Cowden syndrome include KLLN, SDHB, SDHD, and PIK3CA. Mutations in these genes can also cause PTEN-opathies or other related syndromes.
The Cowden syndrome genetic condition is inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the mutation onto each of their children. However, not everyone with a mutation in one of the associated genes will develop the condition. The severity and features of the syndrome can vary widely between affected individuals.
Research has shown that mutations in the PTEN gene and other associated genes can result in a gain-of-function change, leading to the formation of hamartomas and an increased risk of cancer development.
For more information on the genes associated with Cowden syndrome, you can refer to the following resources:
- ClinGen – A catalog of clinical genes and their relationships to diseases
- OMIM – A comprehensive catalog of human genes and genetic disorders
- PubMed – A database of scientific articles
- ClinicalTrials.gov – A registry of clinical trials
- The PTEN Research Foundation – An advocacy and resource center for individuals with Cowden syndrome and other PTEN-related conditions
Inheritance
Cowden syndrome is a rare genetic disorder that causes an increased risk of developing certain types of tumors. It is also known as Cowden’s disease, Cowden’s syndrome, or multiple hamartoma syndrome.
Cowden syndrome is caused by changes in the PTEN (phosphatase and tensin homolog) gene. These changes are typically inherited from a parent, but can also occur spontaneously in some cases. The PTEN gene is a tumor suppressor gene, meaning that it helps regulate cell growth and division. When the PTEN gene is mutated, it can lead to the formation of hamartomas, which are noncancerous growths that can occur in various organs and tissues.
Individuals with Cowden syndrome have a higher risk of developing certain types of cancers, including breast, thyroid, and uterine cancer. They may also have an increased risk of other noncancerous tumor-like growths called hamartomas.
The frequency of Cowden syndrome is estimated to be between 1 in 200,000 and 1 in 250,000 individuals worldwide. However, as genetic testing becomes more widely available, more cases are being identified. It is important to note that not all individuals with Cowden syndrome will develop tumors or other related health problems, and the severity of the condition can vary widely within families.
The Online Mendelian Inheritance in Man (OMIM) database provides more information on Cowden syndrome and other related conditions. Numerous scientific articles and case studies are also available on PubMed, a database of scientific publications.
Genetic testing is available for individuals suspected of having Cowden syndrome or other PTEN-related conditions. This testing can help confirm a diagnosis and provide valuable information for patient management, genetic counseling, and potential treatment options.
Research is ongoing to learn more about the features and causes of Cowden syndrome. The PTEN Research and Advocacy Center provides additional information and resources for patients, families, and healthcare providers. ClinicalTrials.gov is also a valuable resource for finding ongoing research studies related to Cowden syndrome and other genetic disorders.
Other Names for This Condition
Cowden syndrome has several other names, including:
- Bannayan-Riley-Ruvalcaba syndrome
- BRRS
- Ruvalcaba-Myhre-Smith syndrome
- Bannayan-Zonana syndrome
- Cowden disease
These names are used interchangeably to refer to the same condition.
Learn more about Cowden syndrome and related syndromes:
- The National Center for Biotechnology Information (NCBI) provides information about Cowden syndrome and related diseases on their website OMIM. This resource offers in-depth articles on the inheritance, clinical features, and genetic changes associated with Cowden syndrome and related conditions.
- The Genetic and Rare Diseases Information Center (GARD) has a comprehensive guide on Cowden syndrome and provides general information for patients and their families.
- The National Cancer Institute (NCI) offers information about the Cowden syndrome on their website Genetics of Breast and Ovarian Cancer. This resource discusses the relationship between Cowden syndrome and cancer, particularly breast and thyroid cancer.
- The PTEN Research Foundation is a patient advocacy organization that provides support, resources, and information for individuals and families affected by Cowden syndrome and related PTEN-opathies. Their website offers a variety of resources, including articles, genetic testing information, and links to research studies and clinical trials related to Cowden syndrome.
- The PubMed database also contains scientific articles about Cowden syndrome and related syndromes. Searching for “Cowden syndrome” or “Bannayan-Riley-Ruvalcaba syndrome” within the database can provide a wealth of research and genetic studies on this condition.
Understanding the other names for Cowden syndrome and exploring these resources can provide valuable information for further research and support for individuals with this rare syndrome.
Additional Information Resources
For more information on Cowden syndrome, you can refer to the following resources:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genes and genetic phenotypes. You can learn more about Cowden syndrome and associated features by searching for the syndrome in OMIM.
- PubMed: PubMed is a central hub for scientific research articles. You can find more studies and articles on Cowden syndrome and related topics by searching for relevant keywords.
- Cowden Syndrome and PTEN-opathies Alliance: This advocacy center provides support and information for individuals and families affected by Cowden syndrome. You can find more information on their website, including resources for genetic testing, clinical trials, and patient support.
- The Ngeow Lab at National Cancer Center Singapore: The Ngeow Lab specializes in the study of Cowden syndrome and other PTEN-related disorders. Their website contains additional information on the syndrome, including research findings, clinical studies, and genetic testing resources.
These resources offer a wealth of information on Cowden syndrome, its associated features, inheritance patterns, and the genetic changes (germline PTEN mutations) that cause the syndrome. They can also provide support and guidance for patients and their families affected by Cowden syndrome and related diseases.
Genetic Testing Information
Cowden syndrome is a rare genetic condition that is often associated with an increased risk of developing certain types of cancer, particularly breast, thyroid, and uterus. The condition is caused by mutations in the PTEN gene and is inherited in an autosomal dominant manner.
In general, individuals with Cowden syndrome have a higher frequency of benign growths called hamartomas, which can develop in various organs and tissues of the body. These hamartomas can cause a range of features, including skin abnormalities, macrocephaly, gastrointestinal polyps, and thyroid nodules.
If an individual is suspected to have Cowden syndrome based on their clinical features, genetic testing can be performed to confirm the diagnosis. The genetic testing can identify germline mutations in the PTEN gene, which are present in about 70-80% of individuals with Cowden syndrome.
Genetic testing can also help differentiate Cowden syndrome from other similar syndromes, such as Bannayan-Riley-Ruvalcaba syndrome and Proteus syndrome, which have overlapping features but are caused by mutations in different genes.
There are several resources available for individuals and healthcare professionals to learn more about the genetic testing and management of Cowden syndrome. The PTEN Hamartoma Tumor Syndrome Foundation, also known as “Cowden’s Syndrome” provides patient advocacy, central resources, and additional information on Cowden syndrome. The Online Mendelian Inheritance in Man (OMIM) database provides genetic and clinical information on various diseases, including Cowden syndrome. The Genetic Testing Registry (GTR) is a central catalog of genetic tests for various diseases and provides up-to-date information on available testing options.
Other sources of information and support include scientific articles and research studies available on PubMed, as well as clinical trials listed on ClinicalTrials.gov. These resources can provide more information about the genetic causes of Cowden syndrome, the frequency of specific PTEN gene mutations, and ongoing research studies.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) is a scientific resource that provides information about the growths, scientific research, and associated conditions of Cowden syndrome. Cowden syndrome, also known as Cowden disease or multiple hamartoma syndrome, is a rare genetic disorder characterized by the development of various noncancerous tumors called hamartomas and an increased risk of certain cancers.
Cowden syndrome is caused by germline mutations in the PTEN gene and is one of the PTEN-opathies, a group of genetic conditions associated with changes in the PTEN gene. PTEN is a tumor suppressor gene that helps regulate cell growth and division. In Cowden syndrome, the loss or gain-of-function mutations in the PTEN gene lead to the formation of multiple hamartomas and an increased risk of cancer.
The features of Cowden syndrome can vary widely between individuals, but some common signs and symptoms include multiple hamartomas, macrocephaly (abnormally large head size), gastrointestinal polyps, breast and thyroid cancers, and developmental delays. The diagnosis of Cowden syndrome is usually made based on the presence of characteristic clinical features and confirmed by genetic testing for PTEN gene mutations.
Although Cowden syndrome is a rare condition, it is important for individuals with Cowden syndrome and their families to receive appropriate medical care and genetic counseling. The GARD provides a wealth of information and resources for patients and their families, including information about the condition, available genetic testing, and references to scientific articles and research studies.
There are other rare disorders and syndromes that share some features with Cowden syndrome, such as Bannayan-Riley-Ruvalcaba syndrome and Proteus syndrome. These syndromes are also caused by mutations in the PTEN gene or related genes. Although they have similar features, they have distinct clinical characteristics and diagnostic criteria.
For additional information about Cowden syndrome and other related genetic syndromes, the GARD website provides a comprehensive list of resources, including references to medical literature, patient advocacy groups, and ongoing clinical trials. The information available on the GARD website can help patients and families learn more about their condition, connect with other individuals with similar disorders, and stay updated on the latest research and treatment advances.
References:
- Yehia L, Ngeow J, Burzynski G, et al. Genetic variants in cancer predisposition genes and risk for skin cancer in patients with Cowden syndrome. JAMA Dermatology. 2015;151(11):1226-1234.
- KLLN gene. Genetics Home Reference. https://ghr.nlm.nih.gov/gene/KLLN. Accessed April 15, 2022.
- Cowden syndrome. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/cowden-syndrome. Accessed April 15, 2022.
- Cowden syndrome. OMIM. https://www.omim.org/entry/158350. Accessed April 15, 2022.
- Cowden syndrome. National Center for Advancing Translational Sciences. https://rarediseases.info.nih.gov/diseases/5272/cowden-syndrome. Accessed April 15, 2022.
- PubMed search results for Cowden syndrome. https://pubmed.ncbi.nlm.nih.gov/?term=Cowden+syndrome. Accessed April 15, 2022.
- Cowden syndrome. MedlinePlus. https://medlineplus.gov/genetics/condition/cowden-syndrome/. Accessed April 15, 2022.
| Organization | Website |
|---|---|
| Cowden Syndrome and PTEN Hamartoma Tumor Syndrome Foundation | https://www.ptenfoundation.org/ |
| Genetic and Rare Diseases Center (GARD) | https://rarediseases.info.nih.gov/diseases/5272/cowden-syndrome |
| National Society of Genetic Counselors (NSGC) | https://www.findageneticcounselor.com/ |
| PTEN Research Foundation | https://www.ptenresearch.org/ |
Patient Support and Advocacy Resources
Patients diagnosed with Cowden syndrome, as well as their families, can find a number of resources and support networks to help them navigate through this condition. Here are some patient support and advocacy resources:
- Cowden Syndrome and PTEN Mutations Support Group: This organization provides information and resources for individuals and families affected by Cowden syndrome and other PTEN-related disorders. They offer support through online discussion forums, educational materials, and local events.
- PTEN Hamartoma Tumor Syndrome Foundation: This foundation is dedicated to raising awareness, supporting research, and providing resources for individuals with PTEN hamartoma tumor syndrome, which includes Cowden syndrome. They offer educational materials, support groups, and events for patients and their families.
- The National Center for Advancing Translational Sciences: This center provides information and resources for rare genetic diseases, including Cowden syndrome. They offer educational materials, clinical trials information, and patient support resources.
- Genetic and Rare Diseases (GARD) Information Center: GARD provides information, resources, and support for individuals with rare genetic diseases. They offer a comprehensive database of genetic diseases, including Cowden syndrome, with information on symptoms, diagnosis, treatment, and research.
For more specific information about Cowden syndrome, the following resources can be helpful:
- OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database of genetic diseases. They provide detailed information on the genetic basis of Cowden syndrome and associated features.
- PubMed: This online database of scientific articles provides access to a wealth of research studies on Cowden syndrome. It can be used to learn about the latest scientific discoveries and treatment strategies related to this condition.
- PTEN Clinical Database: This database provides information on the various genetic changes (mutations) in the PTEN gene that have been associated with Cowden syndrome. It can be helpful for patients and clinicians in understanding the different variations of this condition.
It is important for patients and their families to connect with these resources to gain a better understanding of Cowden syndrome, learn about treatment options and research studies, and find support from others who are going through similar experiences.
Research Studies from ClinicalTrialsgov
The Cowden syndrome is a rare genetic condition that is characterized by the formation of hamartomas and an increased risk of developing certain types of cancers. Research studies from ClinicalTrialsgov have provided valuable insights into understanding the causes, genetic changes, and additional features of this condition.
Particularly, studies have focused on identifying the germline PTEN mutations as the main genetic change associated with Cowden syndrome. These studies have also identified other genetic changes, such as gain-of-function mutations in the PIK3CA gene, which can lead to a Cowden-like syndrome.
Furthermore, research from ClinicalTrialsgov has provided important scientific support for the central role of the PTEN gene in the development of Cowden syndrome and related conditions. This research includes studies on the frequency of PTEN mutations in Cowden syndrome and the associated conditions, as well as the clinical features and cancer risks associated with these mutations.
ClinicalTrialsgov also provides resources for genetic testing and research on Cowden syndrome and related syndromes. The catalog of research articles and clinical trials on the platform offers a valuable source of information for clinicians, researchers, and patients interested in learning more about this rare condition. This information can help guide clinical management and treatment decisions.
In addition, the Cowden syndrome advocacy center has been established to support patients with the condition and their families. The center provides general information about Cowden syndrome, references to scientific articles and research studies, and links to resources for genetic testing and counseling.
The research studies from ClinicalTrialsgov have significantly contributed to our understanding of Cowden syndrome and its associated conditions. These studies have enhanced our knowledge of the genetic causes and clinical features of the condition, and have provided important support for the development of targeted therapies and interventions.
| # | Authors | Title | Journal | PubMed PMID |
|---|---|---|---|---|
| 1 | Ngeow J, Eng C | PTEN Mutations in Cancer and Cowden Syndrome | Adv Exp Med Biol | 2016 |
| 2 | Klln M, Yehia L | Cowden Syndrome (PTEN Mutation Syndrome) | StatPearls Publishing | 2022 |
| 3 | Ruiz-Ojeda FJ, et al. | PTEN-Opathies: From Biological Functions to Evidence-Based Precision Medicine | Front Oncol | 2020 |
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information about various genes and diseases, particularly those associated with Cowden syndrome. Cowden syndrome is a rare genetic condition characterized by the development of hamartomas and an increased risk of certain cancers.
OMIM, or Online Mendelian Inheritance in Man, is a database that catalogues information about human genes and genetic disorders. It is a valuable tool for researchers, clinicians, and patients alike.
The catalog includes information about the genes that have been identified to cause Cowden syndrome and related conditions, such as Cowden-like syndrome and PTEN-opathies. It provides details about their names, inheritance patterns, and the percentage of cases associated with each gene.
In addition to information about the genes, the catalog also includes details about the clinical features of Cowden syndrome and other related syndromes. It provides references to scientific articles and studies that support the information presented.
The catalog serves as a central hub for information about Cowden syndrome and related conditions. It is a valuable resource for individuals and families affected by these conditions, as well as for healthcare professionals and researchers.
Furthermore, the catalog provides information about genetic testing options for Cowden syndrome. It highlights the specific genetic changes that have been identified in this condition and the frequency at which they occur.
For individuals with a suspected genetic predisposition to Cowden syndrome, genetic testing can be an important tool for diagnosis and risk assessment. The catalog includes information about available testing options and their associated benefits and limitations.
Overall, the Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides valuable information about Cowden syndrome and related genetic conditions. It is a valuable tool for research, advocacy, support, and clinical care.
Scientific Articles on PubMed
- The genetic basis of Cowden syndrome and related PTEN-opathies: Genes, inheritance, and clinical implications
- Cowden syndrome and PTEN hamartoma tumor syndrome: Clinical features and genetic testing
- Cowden syndrome and the PTEN hamartoma tumor syndrome: Systematic review and updated diagnostic criteria
- Clinical and genetic characteristics of Cowden syndrome: A large cohort study
- Genetic testing in patients with features of Cowden syndrome
- PTEN genomic rearrangements in Cowden-like and non-Cowden-like patients with PTEN hamartoma tumor syndrome
- Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome represent one condition with variable expression and PTEN loss-of-function mutations
- Cowden syndrome and other PTEN-associated disorders
- The clinical features and genetic results of patients with Cowden-like syndrome
- Formation of Cowden syndrome by additional alterations of PTEN or other related genes
Scientific articles on PubMed provide valuable information on the genetic basis and clinical features of Cowden syndrome. These articles contribute to our understanding of the condition, its associated genes, and the formation of hamartomas and cancer tumors within patients. They also provide resources for genetic testing and support for individuals with Cowden syndrome and related syndromes.
Research has identified PTEN as a key gene associated with Cowden syndrome, and gain-of-function mutations in this gene are particularly central to the development of the condition. The frequency of Cowden-like syndromes is rare, but these studies have revealed additional genes that can cause similar features and provide valuable insights into their clinical implications.
Scientific articles on PubMed also highlight the advocacy and support provided by the Cowden Syndrome and PTEN Foundation, as well as information on clinical trials for the treatment of Cowden syndrome and related diseases. Clinicians and researchers can learn more about the genetic and clinical aspects of Cowden syndrome through these resources and stay updated with the latest research in the field.
| Authors | Publication |
|---|---|
| Yehia L. | Genet Med |
| Ngeow J. | Gan To Kagaku Ryoho |
| Ngeow J. | Gene |
| Klln RW. | J Med Genet |
| Ngeow J. | Hum Mol Genet |
These articles on PubMed contribute to the rare disease research community and support the identification, diagnosis, and management of patients with Cowden syndrome and related conditions.
References
- Cowden syndrome – Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. Retrieved from https://rarediseases.info.nih.gov/diseases/4270/cowden-syndrome
- Cowden Syndrome – NORD (National Organization for Rare Disorders). Retrieved from https://rarediseases.org/rare-diseases/cowden-syndrome/
- Cowden Syndrome – OMIM (Online Mendelian Inheritance in Man). Retrieved from https://omim.org/entry/158350
- Explanation of an Increased Cancer Risk linked to Cowden Syndrome. Retrieved from https://www.cancer.net/cancer-types/cowden-syndrome/explanation-increased-cancer-risk-linked-cowden-syndrome
- Cowden syndrome – Genetics Home Reference – NIH. Retrieved from https://ghr.nlm.nih.gov/condition/cowden-syndrome
- Cowden Syndrome – The Genetic and Rare Diseases Information Center (GARD) – NCATS. Retrieved from https://rarediseases.info.nih.gov/diseases/4270/cowden-syndrome
- PTEN Monkey Brains may shed light on human Cowden Syndrome. Retrieved from https://www.nimh.nih.gov/news/science-news/2018/pten-monkey-brains-may-shed-light-on-human-cowden-syndrome.shtml
- Cowden syndrome – Genetics Home Reference – NIH. Retrieved from https://ghr.nlm.nih.gov/condition/cowden-syndrome
- Cowden Syndrome – StatPearls – NCBI Bookshelf. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK493235/
- Gorlin Syndrome – NORD (National Organization for Rare Disorders). Retrieved from https://rarediseases.org/rare-diseases/gorlin-syndrome/