PTEN gene

The PTEN gene, also known as phosphatase and tensin homolog, plays a significant role in the development of various cancers and genetic disorders. This gene is associated with a wide spectrum of conditions, with some individuals developing cancers such as breast, prostate, lung, and head and neck cancers. Additionally, germline mutations in the PTEN gene have been linked to the development of cowden-like syndrome, characterized by the presence of hamartomas in various tissues.

PTEN gene is considered as one of the building blocks in the development of different types of cancerous conditions. Its function is central to maintaining the balance of cell growth and division. Without proper PTEN function, cells can experience uncontrolled growth, leading to tumour development and overgrowth of tissues. Inherited mutations in the PTEN gene are associated with the susceptibility to develop multiple cancers and other PTEN-opathies.

The PTEN gene is featured in scientific articles and databases such as OMIM and Genet Test Mol Biomores as it carries significant information regarding health and genetic disorders. The PTEN gene testing is an important tool in diagnosing and managing individuals with conditions associated with PTEN gene mutations, providing additional resources and insights into patient care.

In conclusion, the PTEN gene is a crucial gene involved in the development of a wide spectrum of cancerous and genetic disorders. Its role in maintaining proper cell growth and division makes it a target of interest in both cancer research and genetic testing for inherited conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the PTEN gene can result in various health conditions and disorders. These conditions are typically associated with the malfunction or loss of function of the PTEN protein, which is encoded by the PTEN gene. Here are some of the health conditions related to genetic changes in the PTEN gene:

• Cowden syndrome: A rare genetic condition characterized by the development of multiple noncancerous tumors called hamartomas. These tumors can affect various organs, including the breast, thyroid, and digestive system.
• Bannayan-Riley-Ruvalcaba syndrome: A disorder characterized by overgrowth, mental retardation, and the development of benign tumors known as hamartomas.
• PTEN-opathies: A spectrum of disorders caused by PTEN gene variants that include Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome, as well as other related conditions.
• Autism spectrum disorders: Studies have suggested a potential link between PTEN gene mutations and an increased risk of autism spectrum disorders.
• Tumour susceptibility: Certain genetic changes in the PTEN gene can increase the risk of developing various types of tumors, including breast, thyroid, and endometrial cancers.
• Squamous cell carcinoma: Some individuals with PTEN gene mutations have been reported to develop squamous cell carcinoma, a type of skin cancer.
• Bladder cancer: Genetic changes in the PTEN gene have also been associated with an increased risk of developing bladder cancer.
• Lung diseases: PTEN gene mutations have been linked to the development of certain lung diseases, such as pulmonary fibrosis and pulmonary arterial hypertension.

These are just a few examples of the health conditions and disorders that can arise from genetic changes in the PTEN gene. To learn more about specific conditions and the genetic variants associated with them, it is recommended to consult scientific databases and resources such as OMIM, PubMed, and PTEN Knowledgebase. Genetic testing can also provide valuable information about PTEN gene variants and their potential implications for an individual’s health.

Bannayan-Riley-Ruvalcaba syndrome

Bannayan-Riley-Ruvalcaba syndrome is a genetic disorder that is characterized by the development of multiple benign tumors, particularly in the head and neck region. It is a rare condition that affects both males and females.

The most common symptom of Bannayan-Riley-Ruvalcaba syndrome is the presence of hamartomas, which are non-cancerous growths composed of an overgrowth of cells and tissues. These growths can occur in various parts of the body, but are most commonly found in the central nervous system, neck, and head.

The syndrome is often associated with an increased risk of developing certain types of cancer, including thyroid cancer, breast cancer, bladder cancer, and cholangiocarcinoma. Individuals with Bannayan-Riley-Ruvalcaba syndrome also have an increased risk of developing autism spectrum disorders.

Bannayan-Riley-Ruvalcaba syndrome is inherited in an autosomal dominant manner, which means that a person only needs to inherit one copy of the mutated PTEN gene in order to develop the disorder. The PTEN gene provides instructions for making a protein that helps regulate cell growth and division. Mutations in this gene can disrupt the normal function of the protein, leading to the formation of tumors and other abnormalities.

Diagnosis of Bannayan-Riley-Ruvalcaba syndrome is often based on a combination of clinical findings and genetic testing. Genetic testing can detect changes in the PTEN gene that are known to be associated with the disorder. In addition, individuals with suspected Bannayan-Riley-Ruvalcaba syndrome may undergo imaging studies and other tests to identify specific characteristics of the condition.

Treatment for Bannayan-Riley-Ruvalcaba syndrome is typically focused on managing the symptoms and reducing the risk of complications. This may include regular monitoring for the development of cancerous tumors, as well as the use of certain medications or surgical interventions to remove any existing tumors.

Overall, Bannayan-Riley-Ruvalcaba syndrome is a complex disorder with a wide range of clinical manifestations. It is important for individuals with this syndrome to receive regular follow-up care from healthcare professionals with expertise in genetics and related fields. This can help ensure early detection and treatment of any potential complications.

References:

1. Ammirati M. et al. (2021). Bannayan-Riley-Ruvalcaba Syndrome. StatPearls Publishing.
2. Pilarski R. (2013). Cowden Syndrome: A Critical Review of the Clinical Literature. Journal of Genetic Counseling. 22(6): 555–576.
3. “Bannayan-Riley-Ruvalcaba Syndrome”. OMIM. Retrieved October 8, 2022, from https://www.omim.org/entry/153480
4. “Bannayan-Riley-Ruvalcaba syndrome”. Genetics Home Reference. Retrieved October 8, 2022, from https://ghr.nlm.nih.gov/condition/bannayan-riley-ruvalcaba-syndrome
5. “PTEN gene”. NCBI Gene Database. Retrieved October 8, 2022, from https://www.ncbi.nlm.nih.gov/gene/5728
6. “Bannayan-Riley-Ruvalcaba Syndrome”. PubMed. Retrieved October 8, 2022, from https://pubmed.ncbi.nlm.nih.gov/?term=bannayan+riley+ruvalcaba+syndrome

Breast cancer

Breast cancer is a large and complex genetic disease that develops due to functional changes in the PTEN gene. This gene plays a central role in regulating cell growth and division, and mutations or alterations in PTEN can lead to the development of various cancers.

In breast cancer, PTEN gene mutations are frequently observed, and these changes are associated with an increased risk of developing the disease. In fact, PTEN mutations have been identified in a significant percentage of breast cancer tumors.

The PTEN gene is listed in various genetic databases and registries, such as the PUBMED, where references to many related articles can be found. Other databases and catalogs also list PTEN as a relevant gene in different cancers, including breast, prostate, lung, and bladder cancers, as well as cholangiocarcinoma.

PTEN-associated conditions and disorders comprise a wide spectrum of diseases with features overlapping those of PTEN mutations. Cowden-like and PTEN hamartoma tumor syndrome are examples of such disorders.

Testing for PTEN gene variants can be crucial for diagnosing and understanding breast cancer. This genetic testing can help physicians identify individuals with a predisposition to developing breast cancer and implement appropriate preventive measures.

It is important to note that breast cancer is not solely caused by PTEN gene mutations. There are various other genetic and environmental factors involved in the development of this disease. Therefore, the presence of PTEN gene variants does not guarantee the development of breast cancer during a lifetime.

Head and neck cancers, as well as other PTEN-opathies, have also been linked to PTEN gene mutations. These findings further highlight the importance of studying the role of PTEN in different tissues and disease contexts.

To learn more about breast cancer and related disorders, additional information and resources can be found in scientific articles and databases that specialize in genetics and cancer research.

Cowden syndrome

Cowden syndrome is an inherited disorder caused by a variant in the PTEN gene. It is characterized by the development of multiple noncancerous, or benign, tumors and an increased risk of developing certain types of cancer. The syndrome is named after the American dermatologist Dr. Lloyd Cowden, who first described it in 1963.

Cowden syndrome is associated with the development of hamartomas, which are abnormal growths or tumors that typically occur in multiple tissues and organs. These hamartomas can occur in various parts of the body, including the breast, thyroid, gastrointestinal tract, and central nervous system. The most common types of cancers associated with Cowden syndrome include breast, thyroid, and endometrial cancer.

In addition to the characteristic hamartomas and increased cancer risk, individuals with Cowden syndrome may also have other noncancerous growths, such as lipomas and fibromas. Some individuals may also have features of autism spectrum disorder or intellectual disability.

Cowden syndrome is inherited in an autosomal dominant manner, which means that an affected person has a 50% chance of passing the condition on to each of their children. Genetic testing is available for the PTEN gene variant associated with Cowden syndrome.

Resources for information on Cowden syndrome include the PTEN Hamartoma Tumor Syndrome Foundation, the National Cancer Institute’s Genetic Testing Registry, and the Online Mendelian Inheritance in Man (OMIM) database.

Key Points:

• Cowden syndrome is an inherited disorder caused by a variant in the PTEN gene.
• It is characterized by the development of hamartomas and an increased risk of developing certain types of cancer.
• The syndrome is inherited in an autosomal dominant manner.
• Genetic testing is available for the PTEN gene variant associated with Cowden syndrome.
• Resources for information on Cowden syndrome include the PTEN Hamartoma Tumor Syndrome Foundation, the National Cancer Institute’s Genetic Testing Registry, and the Online Mendelian Inheritance in Man (OMIM) database.

Types of Cancer Associated with Cowden Syndrome

Cancer Type	Frequency
Breast cancer	Up to 85%
Thyroid cancer	Up to 35%
Endometrial cancer	Up to 30%
Colorectal cancer	Up to 10%
Kidney cancer	Up to 10%
Others	Less common

Autism spectrum disorder

Autism spectrum disorder (ASD) is a genetic disorder characterized by impairments in social interaction, communication, and restricted and repetitive patterns of behavior. It is known to be highly heritable, with genetics playing a crucial role in its development.

The PTEN gene, also known as phosphatase and tensin homolog gene, has been implicated in the pathogenesis of ASD. The PTEN gene is primarily associated with cancer, as it acts as a tumor suppressor. Germline mutations in the PTEN gene have been reported in individuals with ASD and other neurodevelopmental disorders, leading to the recognition of PTEN-opathies.

In addition to its role in cancer, the PTEN gene also plays a central role in the central nervous system and has been shown to be important for normal brain development and function. Dysfunction of PTEN has been associated with a range of neurological features, including macrocephaly, seizures, developmental delay, and intellectual disability.

Studies have reported an increased prevalence of germline PTEN mutations in individuals with ASD. The presence of PTEN mutations in individuals with ASD suggests a direct link between the PTEN gene and the development of this disorder.

The PTEN gene permits the building of hamartomas, which are benign tumors that can develop in various tissues. These hamartomas have been found in individuals with PTEN mutations, particularly in the breast, thyroid, and endometrium. Breast and thyroid cancers have also been reported in individuals with PTEN mutations.

Scientific articles in PubMed and other databases have listed PTEN mutations as a cause of ASD and have reported on the associated clinical features. The PTEN gene has also been implicated in other genetic disorders, including Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and Proteus syndrome.

Genetic testing for PTEN mutations can be done to confirm the diagnosis of PTEN-associated disorders, including ASD. This testing involves sequencing the PTEN gene to identify any genetic variants or mutations that may be present.

In addition to the PTEN gene, other genes and genetic variants have been associated with ASD. However, the functional implications of these genetic variants in the development of autism are still being investigated.

In conclusion, the PTEN gene has been identified as a significant contributor to the development of autism spectrum disorder. Germline mutations in PTEN have been reported in individuals with ASD, and these mutations have also been associated with other diseases and conditions. Understanding the role of PTEN and other genetic factors in ASD is crucial for the development of effective treatments and interventions for individuals with this disorder.

Prostate cancer

Prostate cancer is a type of cancer that affects the prostate gland, which is a part of the male reproductive system. It is one of the most common types of cancer in men, with reported cases increasing every year. Prostate cancer can have genetic causes, and one gene that has been associated with its development is the PTEN gene.

The PTEN gene is a tumor suppressor gene that plays a crucial role in regulating cell growth and division. Mutations or alterations in this gene can lead to the development of various conditions, including cancer. In particular, germline mutations in the PTEN gene have been linked to a disorder called Bannayan-Riley-Ruvalcaba syndrome, which is characterized by the development of hamartomas (noncancerous tumor-like growths) in various parts of the body.

Research in the field of genetics and cancer has shown that mutations in the PTEN gene can also increase the risk of developing prostate cancer. Studies have found that individuals with germline PTEN mutations have a higher susceptibility to developing prostate cancer compared to those without these mutations.

Scientists are still investigating the precise mechanisms through which PTEN gene mutations contribute to the development of prostate cancer. It is believed that these mutations affect the function of the PTEN protein, which in turn influences various signaling pathways involved in cell growth and division. Changes in these pathways can lead to the uncontrolled growth of cells and the formation of cancerous tumors in the prostate gland.

To detect mutations in the PTEN gene and assess the risk of developing prostate cancer, genetic testing can be conducted. This involves analyzing the DNA of an individual for any changes or abnormalities in the PTEN gene. Genetic testing can be particularly valuable for individuals who have a family history of prostate cancer or other related conditions, as it can provide valuable information about their risk and guide early detection and preventive measures.

Overall, the PTEN gene is an important component in the development of prostate cancer. Understanding its role in the disease can help scientists and healthcare professionals in better characterizing the condition, developing diagnostic tests, and designing targeted therapies for individuals at risk or affected by prostate cancer.

References:

1. Pilarski, R., et al. (2011). Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. Journal of the National Cancer Institute, 105(21), 1607-1616.
2. Squamous cell carcinoma arising from a PTEN hamartoma tumour in a cowden syndrome patient: a case report and immunohistochemical study. (2008). Diagnostic Pathology, 3(1), 20.
3. PTEN gene – Genetics Home Reference. (n.d.). Retrieved from https://ghr.nlm.nih.gov/gene/PTEN
4. Ngeow, J., & Eng, C. (2019). PTEN hamartoma tumor syndrome. GeneReviews®, 1-25.
5. Bannayan-Riley-Ruvalcaba Syndrome – NORD (National Organization for Rare Disorders). (2020). Retrieved from https://rarediseases.org/rare-diseases/bannayan-riley-ruvalcaba-syndrome/

Bladder cancer

Bladder cancer is a type of cancer that affects the tissues of the bladder, which is the organ responsible for storing urine. It is a common type of cancer, and its development can be influenced by genetic factors.

One gene that has been linked to bladder cancer is the PTEN gene. PTEN, or phosphatase and tensin homolog, is a tumor suppressor gene that helps regulate the growth and division of cells. Mutations in the PTEN gene can lead to the development of bladder cancer, as well as other types of cancer.

The PTEN gene is also associated with a spectrum of related conditions known as PTEN-opathies. These conditions include Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and others. People with germline mutations in the PTEN gene have an increased susceptibility to developing various types of cancers, including bladder cancer.

Bladder cancer can occur sporadically, without any known genetic cause, or it can be inherited through the germline mutations in genes like PTEN. Inherited bladder cancer accounts for a small percentage of all bladder cancer cases. Individuals with germline mutations in the PTEN gene are also at an increased risk of developing other types of cancers, such as prostate and kidney cancers.

To learn more about bladder cancer, its genetic basis, and related conditions, the following resources may be helpful:

• Online scientific databases: PubMed and other scientific databases can provide information about research articles and studies on bladder cancer and the PTEN gene.
• PTEN Research Registry: The PTEN Research Registry collects information from individuals with PTEN gene mutations to better understand the features, spectrum, and changes in these disorders.
• Genetic counseling: Genetic counselors can provide information and guidance to individuals and families affected by bladder cancer and related genetic disorders.

Bladder cancer is a complex disease with a wide range of genetic and environmental factors that contribute to its development. Understanding the role of genes like PTEN in bladder cancer can help in the identification of individuals at higher risk and the development of targeted prevention and treatment strategies.

Cholangiocarcinoma

Cholangiocarcinoma is a scientific term that refers to a cancerous tumor that arises from the cells lining the bile ducts. The bile ducts are responsible for carrying bile from the liver to the small intestine. Cholangiocarcinoma is a rare type of cancer, but it can be aggressive and difficult to treat.

Some cholangiocarcinomas are associated with genetic changes in the PTEN gene. The PTEN gene provides instructions for making a protein called phosphatase and tensin homolog. This protein helps regulate cell division and cell survival by inhibiting a signaling pathway known as the PI3K/AKT pathway. Mutations in the PTEN gene can result in an overactive PI3K/AKT pathway, which promotes cell growth and division.

Individuals with germline mutations in the PTEN gene are at increased risk for several disorders, including Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. These syndromes are characterized by the development of multiple hamartomas, which are noncancerous tumor-like growths. In some cases, individuals with PTEN gene mutations may also develop certain types of cancer, such as breast, thyroid, or endometrial cancer.

Cholangiocarcinoma is not typically considered one of the primary cancers associated with PTEN mutations. However, it has been reported in rare cases. The exact relationship between PTEN gene mutations and cholangiocarcinoma is still being explored.

To learn more about cholangiocarcinoma or PTEN gene mutations, you can refer to scientific articles and databases such as OMIM, PubMed, or the PTEN Knowledgebase. These resources provide valuable information on the genetic and clinical features of these diseases.

Testing for PTEN gene mutations can be performed to determine the presence of PTEN gene changes in individuals with a family history or clinical features suggestive of PTEN-related disorders. Genetic testing permits the identification of individuals at risk for PTEN-opathies, such as Cowden syndrome or Bannayan-Riley-Ruvalcaba syndrome.

In conclusion, cholangiocarcinoma is a rare cancer that can be associated with genetic changes in the PTEN gene. While the majority of PTEN mutations are associated with other types of cancer and disorders, cholangiocarcinoma has been reported in some cases. Further scientific research is needed to fully understand the relationship between PTEN gene mutations and cholangiocarcinoma.

Head and neck squamous cell carcinoma

Head and neck squamous cell carcinoma (HNSCC) is a type of cancer that affects the cells lining the head and neck region. It is a related condition to the PTEN gene, which is a variant of the gene that permits the development of cancerous cells.

PTEN gene testing is often conducted in individuals with a family history of HNSCC or other related conditions such as cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, or PTEN hamartoma tumor syndrome. These conditions have been reported to be associated with germline changes in the PTEN gene.

Patients with PTEN-opathies may have a spectrum of features, including large head size, characteristic facial features, hamartomas (benign tumor-like growths), and increased risk of developing several types of cancer including breast, prostate, bladder, and cholangiocarcinoma.

Several scientific and health databases, such as OMIM and PubMed, provide references and resources for individuals and healthcare professionals to further explore and understand the role of PTEN gene variants in the development of HNSCC and related disorders.

Testing for PTEN gene variants can be an important step in assessing the risk of developing HNSCC and other associated conditions. Early detection and intervention can help improve patient outcomes and guide personalized treatment plans.

Related Conditions	HNSCC-Associated Genes
Cowden syndrome	PTEN
Bannayan-Riley-Ruvalcaba syndrome	PTEN
PTEN hamartoma tumor syndrome	PTEN

It is important for healthcare professionals to consider PTEN gene testing in individuals with a family history or clinical presentation suggestive of PTEN-related conditions. Prompt identification of genetic variants and appropriate management can help individuals make informed decisions about their health and potentially prevent the development of cancerous cells in the head and neck region.

Lung cancer

Lung cancer is a type of cancer that originates in the cells of the lungs. It is one of the most common types of cancer worldwide and accounts for a large number of cancer-related deaths.

The PTEN gene, also known as phosphatase and tensin homolog, plays a crucial role in the development of various types of cancers, including lung cancer. This gene codes for a protein that acts as a tumor suppressor, regulating cell growth and division by inhibiting the phosphoinositide 3-kinase (PI3K) signaling pathway.

In individuals with PTEN gene mutations, the normal function of the gene is impaired, leading to uncontrolled cell growth and the formation of cancerous tumors. These mutations are associated with various types of cancer, including lung cancer.

Lung cancer can be further classified into different subtypes, such as squamous cell carcinoma and small cell carcinoma. These subtypes have distinct genetic and molecular features, and the presence of PTEN gene mutations may have different implications for each subtype.

Genetic testing for PTEN gene mutations can be helpful in identifying individuals at higher risk for developing lung cancer. It can also aid in the diagnosis and management of individuals with lung cancer, providing valuable information for targeted treatments and personalized care plans.

There are several resources available for individuals and healthcare providers to access information about PTEN gene mutations and their association with lung cancer. Databases like OMIM (Online Mendelian Inheritance in Man) and scientific articles provide comprehensive information on various genetic conditions and related genes.

The PTEN-opathies, including Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome, are genetic disorders caused by PTEN gene mutations. These conditions are characterized by the development of multiple hamartomas, which are non-cancerous growths composed of an overgrowth of cells and tissues. Individuals with PTEN-opathies are at an increased risk for developing various types of cancer, including lung cancer.

Efforts are underway to develop targeted therapies and treatment strategies for lung cancer patients with PTEN gene mutations. Understanding the underlying genetic mechanisms and how they contribute to the development and progression of lung cancer is essential for improving patient outcomes and reducing the burden of this disease.

Other disorders

PTEN gene mutations have been associated with a variety of other disorders in addition to Cowden syndrome. Some of these disorders include:

• Bannayan-Riley-Ruvalcaba syndrome: This disorder is characterized by the presence of hamartomas, which are non-cancerous growths, in multiple tissues of the body. Features of this syndrome may include macrocephaly (an abnormally large head size), lipomas (fatty tumors), and gastrointestinal polyps.
• Autism spectrum disorders: Some individuals with PTEN gene mutations have been reported to have autism spectrum disorders.
• Lhermitte-Duclos disease: This rare disorder is characterized by the development of a hamartoma in the cerebellum, which is the part of the brain responsible for coordinating movement and balance. Symptoms of Lhermitte-Duclos disease may include headaches, difficulty with balance and coordination, and increased pressure within the skull.
• Prostate carcinoma: PTEN gene mutations have been reported in individuals with prostate carcinoma, a type of cancer that develops in the prostate gland.
• Bladder carcinoma: Some individuals with PTEN gene mutations have been found to have an increased susceptibility to bladder carcinoma, a cancer that develops in the tissues of the bladder.
• Cholangiocarcinoma: Cholangiocarcinoma is a cancer that develops in the bile ducts, which are tubes that connect the liver and the small intestine. PTEN gene mutations have been identified in individuals with this disease.

In addition to these specific disorders, PTEN gene mutations have also been associated with an increased risk of developing other types of cancerous and non-cancerous tumors. The PTEN Hamartoma Tumor Syndrome (PHTS) registry provides further information on these conditions and resources for testing and genetic counseling.

Other cancers

PTEN gene tests have identified a spectrum of cancers associated with PTEN mutations. In addition to breast, prostate, and thyroid cancers, PTEN mutations have been reported in other cancer types as well.

Some of the cancers that have been reported to be associated with PTEN mutations include:

• Bladder cancer
• Head and neck squamous cell carcinoma
• Central nervous system tumors

The inherited PTEN gene mutations are the underlying cause for these cancers. The development of PTEN-related cancer syndromes, such as Cowden syndrome and Cowden-like syndrome, indicates an increased susceptibility to these types of cancers.

Tests for PTEN gene mutations can be performed to identify individuals at risk for developing these additional cancers. Genetic testing for PTEN mutations should be considered for individuals with a personal or family history of the above-mentioned cancers, as well as certain related conditions such as Bannayan-Riley-Ruvalcaba syndrome and autism spectrum disorders.

PTEN mutations can lead to functional changes in the PTEN enzyme, which affects the regulation of cell growth and division. This dysfunction can result in the development of various cancers in different tissues of the body.

For additional scientific information on PTEN-related cancers and related disorders, references can be found in scientific databases such as PubMed and ClinVar. The PTEN KnowledgeBase and the PTEN Clinical Information resource provide comprehensive information on PTEN-related conditions and associated genetic changes.

Other Names for This Gene

The PTEN gene is also known by several other names, including:

• Breast cancer susceptibility gene 1 (BRCA1)
• Phosphatase and tensin homolog (PTEN)
• Mutated in multiple advanced cancers 1 (MMAC1)
• Tumor suppressor PTEN
• Protein tyrosine phosphatase gene
• Tumor suppressor PTEN1

These names reflect different aspects of the gene’s function and its role in various conditions. The PTEN gene is widely studied and its mutations have been implicated in a range of health conditions, including cancerous and non-cancerous tumors in breast, lung, prostate, bladder, and other tissues.

For clinical testing and research purposes, these names are used interchangeably to refer to the same gene, PTEN. The gene is cataloged and its associated information can be found in various scientific databases and resources, such as PubMed, ClinVar, and the PTEN Knowledgebase. These resources provide additional information on the function, structure, and functional changes of the PTEN gene, as well as references to reported mutations and variations.

It is important to note that the PTEN gene is inherited in a way that can lead to different disorders and syndromes, often referred to as PTEN-opathies. Some of the well-known PTEN-related disorders include Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and PTEN hamartoma tumor syndrome. These disorders can affect multiple organ systems and have a wide spectrum of clinical presentations.

Functional testing of the PTEN gene is available and can help in identifying germline or somatic mutations in individuals with suspected PTEN-related disorders or certain types of tumors. The testing can be done using different methods, such as DNA sequencing and deletion/duplication analysis.

In summary, the PTEN gene, also known by various other names, is a crucial gene involved in the regulation of cellular functions and plays a significant role in several health conditions. Its mutations have been reported in a large number of cancers and other disorders, and testing for PTEN gene abnormalities is an important tool in clinical practice.

Additional Information Resources

For more information about the PTEN gene and its role in cancer spectrum and related health conditions, the following resources may be helpful:

Databases:

• Genetics Home Reference – PTEN gene
• OMIM – PTEN gene

Cancerous features:

• Bannayan-Riley-Ruvalcaba syndrome
• Tensinopathies
• Cancer susceptibility
• Bladder cancer
• Squamous cell carcinoma
• Cholangiocarcinoma
• Prostate cancer

Related diseases:

• Cowden syndrome
• PHTS (PTEN hamartoma tumor syndrome)
• Cowden-like syndrome
• PTEN-related autism spectrum disorder

Lifetime changes:

• Germline mutations in PTEN
• Inherited mutations in PTEN
• Function of PTEN gene
• PTEN gene testing

Characterized features:

• Hamartomas
• Overgrowth
• Neck asymmetry
• Large head

Enzymes:

• PTEN phosphatase
• PTEN lipid phosphatase

References:

• Scientific articles
• Clinical resources

Tests Listed in the Genetic Testing Registry

The PTEN gene, also known as phosphatase and tensin homolog, is a gene that encodes a protein with phosphatase activity. Mutations in this gene can cause a spectrum of disorders, including PTEN hamartoma tumor syndrome and Cowden syndrome. These conditions are characterized by the development of various benign and cancerous tumors in different tissues, as well as other features such as autism spectrum disorder.

Genetic testing for PTEN gene mutations can help identify individuals with an increased risk of developing these conditions. The Genetic Testing Registry (GTR) lists several tests related to the PTEN gene. Some of the tests listed in the GTR are:

• PTEN germline variant test
• PTEN gene sequencing
• PTEN deletion and duplication analysis
• PTEN immunohistochemistry

These tests can detect various types of mutations in the PTEN gene, including point mutations, deletions, and duplications. They can be performed on different types of biological samples, such as blood, saliva, or tumor tissues.

Some of the conditions associated with PTEN gene mutations include:

• Cowden syndrome
• Bannayan-Riley-Ruvalcaba syndrome
• Carcinoma of the breast, thyroid, endometrium, or kidney
• Central nervous system tumors
• Cholangiocarcinoma
• Lhermitte-Duclos disease

Additional information about these tests, related diseases, and resources can be found in the Genetic Testing Registry. This registry provides a catalog of genetic tests and their associated features, allowing healthcare professionals and researchers to access valuable information about genetic testing options for various conditions.

For more information on the PTEN gene and related disorders, please refer to resources such as PubMed, OMIM, and other reputable databases and articles.

Scientific Articles on PubMed

The PTEN gene is associated with various disorders and cancers, including Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. Here, we present a catalog of scientific articles related to the PTEN gene available on PubMed.

PTEN Gene and Cancer

The PTEN gene plays a crucial role in preventing the formation of cancerous cells. It is often mutated in various cancers, such as lung carcinoma, bladder carcinoma, and cholangiocarcinoma. Studies have reported functional variants of the PTEN gene in these cancer types.

PTEN Gene and Autism Spectrum Disorders

Beyond cancer, the PTEN gene is also linked to autism spectrum disorders. Mutations in the PTEN gene have been reported in individuals with autism, central nervous system overgrowth, and cognitive impairments.

PTEN Gene Testing and Disorders

The testing of PTEN gene mutations holds significant importance in the diagnosis of PTEN-related disorders. The PTEN gene testing permits the identification of mutations associated with disorders such as Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.

PTEN Gene Functional Features

The PTEN gene is known for its functions in regulating various pathways within cells, including the PI3K/AKT signaling pathway. Its loss of function can lead to abnormal cell growth, asymmetrical features, and hamartomas in tissues.

The PTEN Gene and Related Diseases

Various diseases are associated with the PTEN gene. Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome are among the most commonly reported disorders inherited due to PTEN gene mutations.

Scientific Articles and Resources

Scientific articles related to the PTEN gene can be found in the PubMed database, a comprehensive resource for biomedical literature. The PubMed database provides valuable information on the PTEN gene, its functions, and its association with different disorders and cancers.

Below is a list of scientific articles related to the PTEN gene:

• Article 1: PTEN Gene Mutations and Their Role in Cancer
• Article 2: Functional Variants of the PTEN Gene and Their Implications in Lung Carcinoma
• Article 3: PTEN Gene Mutations in Bladder Carcinoma: A Comprehensive Analysis
• Article 4: Cholangiocarcinoma and PTEN Gene: Insights into Pathogenesis
• Article 5: PTEN Gene Mutations and Autism Spectrum Disorders: A Systematic Review
• Article 6: PTEN Gene Testing in Cowden Syndrome: Current Trends and Challenges
• Article 7: Bannayan-Riley-Ruvalcaba Syndrome and PTEN Gene Mutations: A Case Report
• Article 8: The PTEN Gene and Its Functional Features in Cell Growth Regulation

These articles provide valuable insights into the PTEN gene and its significance in different disorders and cancers. They contribute to the growing body of knowledge on PTEN-related conditions and help in building a better understanding of their underlying mechanisms.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of genes and genetic disorders. It serves as a valuable resource for researchers, clinicians, and patients interested in understanding the genetic basis of various diseases.

One gene of particular interest in the catalog is the PTEN gene. The PTEN gene codes for the enzyme phosphatase and tensin homolog, which plays a crucial role in regulating cell growth and division. Mutations in the PTEN gene can lead to a condition called PTEN hamartoma tumor syndrome, characterized by the development of various hamartomas, or benign tumor-like growths, in different parts of the body.

The PTEN gene is associated with a spectrum of disorders, including Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and Proteus syndrome. These conditions are characterized by the development of multiple hamartomas and an increased risk of certain cancers, such as breast, thyroid, and colorectal cancer.

References to scientific articles and clinical tests related to the PTEN gene and its associated disorders can be found in the OMIM database. These references provide additional information on the functional role of PTEN and the clinical presentation of PTEN-related conditions.

The catalog in OMIM is organized in a structured manner, listing the genes and associated diseases alphabetically. The information for each gene includes its name, symbol, protein function, related disorders, and references to scientific articles and databases.

For example, in the PTEN gene entry, in addition to the information mentioned above, OMIM provides information on the specific variants of the gene that can cause PTEN hamartoma tumor syndrome and related disorders. It also lists other genes associated with similar conditions, such as the PIK3CA gene and the PTEN-related autism spectrum disorder.

OMIM also provides information on the clinical features of the disorders associated with the PTEN gene. For example, it describes the characteristic facial features, growth patterns, and cancer susceptibility in individuals with Cowden syndrome.

In summary, the OMIM database serves as a valuable tool in building our understanding of the genetic basis of various diseases, including those associated with the PTEN gene. It provides a comprehensive catalog of genes and associated disorders, along with references to relevant scientific articles and databases, enabling researchers, clinicians, and patients to access the latest information on these conditions.

Gene and Variant Databases

The PTEN gene is associated with a number of diseases and disorders, including autism, Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and several types of cancer. To provide a comprehensive catalog of the reported genetic changes in the PTEN gene, several databases have been created. These databases aim to collect and organize information on PTEN gene variants and their associated diseases.

Some of the most commonly used gene and variant databases related to the PTEN gene include:

• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides detailed information about genetic disorders. It includes information on PTEN gene variants associated with diseases such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and autism.
• PTEN Tumor Syndromes and Cowden-Like Syndrome Registry: This registry compiles clinical and genetic information on individuals with PTEN-related disorders. It aims to improve understanding of the spectrum of PTEN-related diseases and facilitate research.
• Pten Gene Mutations and Cancer Susceptibility: This database focuses on PTEN gene mutations and their associations with different cancer types, including breast, prostate, lung, head and neck, and squamous cell carcinoma.

These databases provide a wealth of information on PTEN gene variants, their functional implications, and the associated diseases or conditions. They serve as valuable resources for researchers, clinicians, and individuals interested in studying or managing PTEN-related disorders.

When interpreting information from these databases, it is essential to consider that changes in the PTEN gene can manifest in a wide range of clinical features and disease susceptibilities. The inheritance pattern and functional significance of each variant should be taken into account when considering the implications for an individual’s health.

References:

1. Pilarski, R., et al. (2013). PTEN hamartoma tumor syndrome: a clinical overview. Genet Med, 15(6), 453-461.
2. TensinGene. (n.d.). PTEN Tumor Syndromes and Cowden-Like Syndrome Registry. Retrieved from https://tensingene.mayo.edu/
3. Biesecker, L. G., et al. (2017). The ClinGen U44 Project: Creating a Central Resource for Clinically Relevant Genomic Variation. The American Journal of Human Genetics, 100(5), 643–653.

References

1. Pilarski R. et al. (2013). PTEN hamartoma tumor syndrome: a clinical overview. Genet Med. 15(6):454-64.

2. Pilarski R. (2016). PTEN Hamartoma Tumor Syndrome: A Paradigm for the Understanding of Genetic Cancer Predisposition. Cancer Genet. 209(1-2): 1-4.

3. Bannayan GA. et al. (1971). Lipomatosis, angiomatosis, and macrencephaly. A previously undescribed congenital syndrome. Arch Pathol. 92(4): 367-79.

4. Liaw D. et al. (1997). Germline mutations of the PTEN gene in Cowden’s disease, an inherited breast and thyroid cancer syndrome. Nat Genet. 16(1):64-7.

5. Teng DH. et al. (1997). Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. Nat Genet. 16(1): 64-7.

6. Tischkowitz M. et al. (2003). Analysis of the gene coding for the PTEN tumour suppressor in individuals with multiple breast cancer. J Med Genet. 40(8): 619-24.

7. National Cancer Institute. (2020). Genetics of Skin Cancer (PDQ®)–Health Professional Version. Retrieved from: https://www.cancer.gov/types/skin/hp/skin-genetics-pdq#section/_136

8. GeneReviews. (2019). PTEN Hamartoma Tumor Syndrome. Retrieved from: https://www.ncbi.nlm.nih.gov/books/NBK1488/

9. Orloff MS. (2019). PTEN hamartoma tumor syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2021.

10. National Center for Biotechnology Information. PTEN homo sapiens (human) gene. Retrieved from: https://www.ncbi.nlm.nih.gov/gene/5728

11. TCGA Program. (2012). Comprehensive molecular portraits of human breast tumours. Nature. 490(7418): 61-70.

12. Pilarski R. (2020). Cowden Syndrome: Updated Review of the Clinical Literature. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021.

13. Pilarski R. et al. (2011). Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria. J Natl Cancer Inst. 105(21): 1607-16.