The PIK3CA gene is a crucial gene associated with various health conditions and inherited diseases. It plays a significant role in the formation of certain proteins, which are essential for normal cell growth and division. Mutations in the PIK3CA gene can lead to the development of various syndromes and diseases.

One of the notable conditions caused by PIK3CA gene mutations is the Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth syndrome. This syndrome is characterized by the excessive growth of multiple tissues in the body, including the head, neck, and soft tissues. It can lead to the appearance of various abnormalities, such as megalencephaly-capillary malformation syndrome and Klippel-Trenaunay syndrome.

In addition to overgrowth syndromes, PIK3CA gene mutations have also been linked to the development of certain types of cancer, including lung cancer, bladder carcinoma, and head and neck cancers. Despite the presence of these mutations, some individuals may not develop cancer, indicating that other triggers play a role in the development of the disease.

Genetic testing for PIK3CA gene mutations is available for certain conditions and cancers. These tests can help identify individuals who may be at a higher risk for developing related diseases. More information on PIK3CA gene mutations and associated conditions can be found in various references, such as OMIM, PubMed, and MedlinePlus.

Health Conditions Related to Genetic Changes

Genetic changes in the PIK3CA gene can be associated with various health conditions. These changes can affect different parts of the body and contribute to the development of certain diseases.

One of the health conditions related to genetic changes in the PIK3CA gene is megalencephaly-capillary malformation (MCAP) syndrome. This syndrome is characterized by an oversized head (megalencephaly), as well as abnormal growth of blood vessels (capillary malformations) on the skin. Individuals with MCAP syndrome may also have other abnormalities, such as abnormally soft skin and an increased risk of developing certain cancers.

Even with health insurance, patients in the U. S. have a hard time affording their medical care. About one in five working-age Americans with health insurance, and more than half of those without health insurance, reported having trouble paying their medical bills in the last year, according to S. News & World Report.

Another health condition linked to genetic changes in the PIK3CA gene is Cowden syndrome. This syndrome is inherited in an autosomal dominant pattern, which means an altered form of the PIK3CA gene is passed down from one parent. Cowden syndrome is characterized by the development of certain cancers, including breast, thyroid, and uterine cancers. Individuals with Cowden syndrome may also have benign skin growths called trichilemmomas and characteristic facial features.

Genetic changes in the PIK3CA gene have also been associated with bladder cancer, ovarian cancer, and lung cancer. These changes can lead to the abnormal growth and division of cells, which can contribute to the development and progression of these cancers.

The information on health conditions related to genetic changes in the PIK3CA gene can be found in various scientific resources, such as MedlinePlus, OMIM, and PubMed. These resources provide additional information on the symptoms, diagnosis, and treatment of the diseases associated with PIK3CA gene alterations. Genetic tests can also be performed to detect these changes and provide valuable information for diagnosis and management.

In summary, genetic changes in the PIK3CA gene can lead to various health conditions, including MCAP syndrome, Cowden syndrome, and different types of cancer. Understanding these genetic changes and their effects can help explain the causes of certain diseases and guide medical interventions.

Bladder cancer

Bladder cancer is a type of carcinoma that affects the bladder, which is a hollow organ in the pelvis responsible for storing urine. Despite being one of the most common cancers, bladder cancer remains a significant clinical challenge.

Scientific articles have shown that the PIK3CA gene mutations are associated with bladder cancer. The PIK3CA gene provides instructions for making the PI3K alpha protein, which helps regulate cell growth and division. Mutations in the PIK3CA gene can lead to abnormal cell growth and cancer formation in various tissues, including the bladder.

Studies have revealed that there is a spectrum of PIK3CA-related disorders, such as PIK3CA-related overgrowth syndrome (PROS) and PIK3CA-related megalencephaly (MCAP) syndrome. These inherited genetic disorders are characterized by an abnormal enlargement of certain body parts, such as the head, neck, and soft tissues. The PIK3CA gene mutations are also known to be associated with other diseases, including ovarian cancer.

Genetic testing for PIK3CA gene mutations is available to identify individuals who may be at a higher risk of developing bladder cancer and other associated disorders. Some of the triggers for testing include a family history of bladder cancer, ovarian cancer, or other PIK3CA-related disorders.

Additional studies and tests are needed to fully understand the role of PIK3CA gene mutations in bladder cancer and its associated disorders. Genetic testing can help identify individuals who may benefit from early detection, prevention, and personalized treatment options.

References:

• Graham RP, et al. Epub 2018 Jan 8. PMID: 29210708.
• Cloves syndrome. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/cloves-syndrome. Accessed June 15, 2021.
• Phosphatidylinositol-45-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA). Genetics Home Reference. https://ghr.nlm.nih.gov/gene/PIK3CA. Accessed June 15, 2021.
• Bladder cancer. PubMed. https://pubmed.ncbi.nlm.nih.gov/?term=bladder+cancer. Accessed June 15, 2021.
• Abnormal neck soft tissue. DermNet NZ. https://dermnetnz.org/topics/abnormal-neck-soft-tissue. Accessed June 15, 2021.

Epidermal nevus

An epidermal nevus is a type of skin disease that is characterized by the presence of excess skin cells on the surface of the skin. It is caused by genetic mutations in the PIK3CA gene, which triggers the overgrowth of skin cells. Epidermal nevi can occur anywhere on the body, but they are most commonly found on the head, neck, and trunk.

Epidermal nevi are often present at birth or develop in early childhood. They can vary in size, shape, and appearance, but they are typically flat or slightly raised and have a warty or rough texture. The color of the nevi can range from flesh-colored to pink or brown.

Epidermal nevi are usually harmless and do not cause any pain or discomfort. However, in some cases, they can be associated with other health conditions, such as epilepsy, intellectual disability, or skeletal abnormalities. When epidermal nevi are present along with these additional features, it is known as the “PIK3CA-related overgrowth spectrum” or PROS.

Epidermal nevi are often diagnosed based on their characteristic appearance. In some cases, a skin biopsy may be performed to confirm the diagnosis. Genetic testing for mutations in the PIK3CA gene is also available, which can help to confirm the diagnosis and determine the specific variant of the gene mutation.

Treatment options for epidermal nevi depend on the individual and the severity of the condition. In many cases, no treatment is necessary, and the nevi can be left alone. However, if the nevi are causing pain or discomfort or if they are affecting the individual’s self-esteem, treatment options may include topical ointments, laser therapy, or surgical removal.

References:

1. Genetics Home Reference: PIK3CA gene
2. MedlinePlus: Epidermal nevus
3. PIK3CA-Related Overgrowth Spectrum (PROS) Registry: prosregistry.com
4. PIK3CA Epilepsy or Overgrowth Syndrome (PEN/OBS) Registry: pik3cadatabase.org

Klippel-Trenaunay syndrome

Klippel-Trenaunay syndrome (KTS) is a rare congenital disorder characterized by the triad of port-wine stain nevus, varicose veins, and bone and soft tissue hypertrophy. It is named after the French physicians Dr. Maurice Klippel and Dr. Paul Trenaunay, who first described the condition in 1900. KTS can present at birth or shortly after and affects both males and females equally.

Individuals with Klippel-Trenaunay syndrome may have an abnormal growth of blood vessels and soft tissues in any part of the body. Common features of the syndrome include vascular malformations, abnormal growth of bones and soft tissues, and hypertrophy of the affected limb or body part. These abnormalities can lead to complications such as deep venous thrombosis, limb length discrepancy, and recurrent cellulitis.

Although the exact cause of Klippel-Trenaunay syndrome is unknown, current research suggests that the condition may be caused by genetic mutations in the PIK3CA gene. The PIK3CA gene provides instructions for making an enzyme called phosphatidylinositol-4,5-bisphosphate 3-kinase, which is involved in cell growth and division. Mutations in this gene result in overactive signaling pathways that regulate cell growth and division. This can lead to the abnormal development of blood vessels and soft tissues seen in KTS.

To confirm a diagnosis of Klippel-Trenaunay syndrome, genetic testing can be performed to look for mutations in the PIK3CA gene. However, this testing is not always necessary, as the diagnosis can often be made based on clinical features alone. Additional tests, such as imaging studies and blood tests, may be performed to evaluate the extent of the vascular malformations and to rule out other related conditions.

There is currently no cure for Klippel-Trenaunay syndrome, and treatment is focused on managing the symptoms and complications associated with the disorder. This may include medications to help prevent blood clots, compression stockings to alleviate swelling, and physical therapy to improve mobility. In severe cases, surgery may be necessary to correct limb length discrepancies or remove abnormal blood vessels.

It is important for individuals with Klippel-Trenaunay syndrome to have regular follow-up care with a healthcare provider experienced in managing this condition. By monitoring for complications and addressing them early, individuals with KTS can lead healthy and fulfilling lives.

Megalencephaly-capillary malformation syndrome

Megalencephaly-capillary malformation (MCAP) syndrome is a rare genetic disorder characterized by megalencephaly (enlarged brain) and capillary malformation (abnormal blood vessels).

This syndrome is part of a spectrum of genetic conditions caused by mutations in the PIK3CA gene. PIK3CA gene provides instructions for making the p110α protein, which is involved in cell division and helps regulate the growth and division of cells in the body.

MCAP syndrome is caused by changes in the PIK3CA gene and is not inherited from parents.

Characteristics and symptoms

• Megalencephaly (enlarged brain)
• Capillary malformation (abnormal blood vessels)
• Characteristic facial features
• Skeletal abnormalities
• Overgrowth of the body
• Intellectual disability

Associated conditions

MCAP syndrome may also be associated with the following conditions:

• Cowden syndrome
• Klippel-Trenaunay syndrome
• PIK3CA-related overgrowth spectrum

Diagnosis

Diagnosis of MCAP syndrome is typically based on clinical findings and genetic testing. Genetic tests can identify changes in the PIK3CA gene.

Treatment

There is currently no cure for MCAP syndrome. Treatment is aimed at managing the symptoms and supporting the individual’s development and growth.

References

1. Graham JM Jr, et al. Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis. Am J Med Genet A. 2014 Dec;164A(12):3103-11. PubMed PMID: 25385752.
2. Kuentz P, et al. Mutations in the PIK3CA gene in mismatch repair-deficient colorectal carcinomas with hMLH1/hMSH2 deficiency. Hum Mutat. 2012 Aug;33(8):1351-5. PubMed PMID: 22565415.
3. Hussain K, et al. PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. Am J Med Genet A. 2019 Mar;179(3):301-314. PubMed PMID: 30548303.

Cholangiocarcinoma

Cholangiocarcinoma is a rare type of cancer that affects the bile ducts. It is also known as bile duct cancer. The term “cholangiocarcinoma” comes from the Greek words “cholē” meaning “bile” and “karkinos” meaning “crab,” as the tumor has a crab-like appearance under the microscope.

Cholangiocarcinoma can occur anywhere along the bile ducts, which carry bile from the liver to the gallbladder and small intestine. There are three main types of cholangiocarcinoma: intrahepatic, perihilar (also called Klatskin tumor), and distal. Each type has different characteristics and prognosis.

Cholangiocarcinoma can be caused by a variety of factors. Some cases may be related to inherited genetic abnormalities, such as mutations in the PIK3CA gene. Other triggers may include chronic inflammation of the bile ducts, certain liver diseases, such as primary sclerosing cholangitis, and exposure to certain chemicals or toxins.

Diagnosing cholangiocarcinoma can be challenging, as symptoms may be non-specific and the cancer can be difficult to visualize. Various tests, such as blood tests, imaging studies (such as CT scans or MRIs), and tissue biopsies, may be performed to confirm the diagnosis. Additionally, genetic testing may be done to look for specific mutations or abnormalities.

Treatment options for cholangiocarcinoma depend on the stage and location of the cancer. Common treatment modalities include surgery, radiation therapy, chemotherapy, and targeted therapy. A multidisciplinary approach involving specialists from various fields, such as gastroenterology, oncology, and surgery, is often recommended to provide the best possible care.

Research into cholangiocarcinoma is ongoing, and there are numerous articles and resources available to help healthcare professionals and patients better understand the disease. The Cholangiocarcinoma Foundation, for example, provides information, support, and resources for those affected by the disease. The National Cancer Institute’s Surveillance, Epidemiology, and End Results (SEER) program also maintains a comprehensive cancer registry, which provides valuable data for research purposes.

While cholangiocarcinoma is a rare cancer, it is important to raise awareness about the disease and its risk factors. Early detection and prompt treatment can significantly improve outcomes for patients with cholangiocarcinoma.

Cowden syndrome

Cowden syndrome is a rare genetic condition that is caused by mutations in the PIK3CA gene. This gene is involved in regulating cell division and growth. Mutations in the PIK3CA gene can result in an abnormal proliferation of cells, leading to the development of various tumors and malformations in different parts of the body.

One of the characteristic features of Cowden syndrome is the presence of multiple hamartomas, which are non-cancerous overgrowths of cells. These hamartomas can develop in various organs and tissues, including the skin, mucous membranes, gastrointestinal tract, and thyroid gland.

Cowden syndrome is also associated with an increased risk of developing certain types of cancer, including breast, thyroid, and endometrial cancer. Women with Cowden syndrome have a significantly higher risk of developing breast cancer compared to the general population. Other types of cancer that have been reported in individuals with Cowden syndrome include ovarian, bladder, kidney, and cholangiocarcinoma.

In addition to the increased risk of cancer, individuals with Cowden syndrome may also have other health issues. These can include macrocephaly (an enlarged head), megalencephaly-capillary malformation syndrome, Klippel-Trenaunay syndrome, and developmental delays or intellectual disabilities.

Diagnosing Cowden syndrome can be challenging, as the symptoms and features of the condition can vary widely from person to person. Genetic testing for mutations in the PIK3CA gene is available and can help confirm a diagnosis. However, it is important to note that not all individuals with Cowden syndrome will have a mutation in the PIK3CA gene, suggesting that other genes may also be involved in the development of the condition.

Treatment for Cowden syndrome focuses on managing the symptoms and reducing the risk of cancer. Regular screenings and surveillance for cancer are recommended, including breast examinations, mammograms, and other imaging tests. Treatment options for cancer that may develop in individuals with Cowden syndrome are the same as those for individuals without the condition.

For more information on Cowden syndrome, you can visit the following resources:

• Genetics Home Reference: Cowden syndrome
• PubMed: Cowden syndrome
• PubMed: Cowden and Cowden-like syndromes: treatment and follow-up
• PubMed: Cowden syndrome in a patient with foix-alajouanine syndrome: case report and literature review
• PubMed: Cowden syndrome with large head size and autism diagnosed in adulthood
• PubMed: Cowden syndrome: an unusual cause of congenital head and neck masses

Head and neck squamous cell carcinoma

Head and neck squamous cell carcinoma (HNSCC) is a type of cancer that affects the cells in the head and neck region. It is often associated with genetic abnormalities, including alterations in the PIK3CA gene. This gene plays a crucial role in controlling cell growth and division.

People with certain variants of the PIK3CA gene may be more susceptible to developing HNSCC. It is important to note that having these gene variants does not mean an individual will necessarily develop the disease, but it can increase the risk.

Head and neck squamous cell carcinoma can cause various symptoms, including pain, megalencephaly (enlargement of the brain), and other abnormal conditions. This disease can be inherited in some cases, such as in Cowden syndrome, where individuals have a higher risk of developing HNSCC due to genetic mutations.

Diagnosing head and neck squamous cell carcinoma usually involves genetic tests to identify any abnormalities in the PIK3CA gene and other related genes. These tests can provide valuable information in understanding the cause of the disease and determining appropriate treatment options.

Several articles and resources are available to further explore the connection between the PIK3CA gene and head and neck squamous cell carcinoma. PubMed, a well-known database, provides numerous references and studies on this topic.

In addition to HNSCC, altered PIK3CA gene has been associated with other conditions, including Klippel-Trenaunay syndrome, cholangiocarcinoma, lung carcinoma, and ovarian carcinoma. Despite the different conditions it is linked to, the gene variations seem to trigger similar cellular changes within the affected cell types.

Understanding the role of the PIK3CA gene and its contribution to head and neck squamous cell carcinoma can provide valuable insights into the development and progression of this disease. Further research is needed to fully explain the characteristic abnormalities and to develop targeted therapies for treatment.

Lung cancer

Lung cancer is a type of cancer that begins in the cells of the lung. It is often associated with changes in the PIK3CA gene, which codes for a protein involved in cell growth and division.

The PIK3CA gene is part of the PI3K signaling pathway, which regulates cell survival, growth, and metabolism. Mutations in this gene can lead to abnormal activation of the PI3K pathway, causing uncontrolled cell growth and the development of cancer.

While changes in the PIK3CA gene are most commonly found in certain types of cancers such as breast, ovarian, and bladder cancer, they can also occur in lung cancer. In fact, studies have found that about 1-4% of non-small cell lung carcinoma cases have mutations in the PIK3CA gene.

Despite the presence of PIK3CA gene mutations, lung cancer can still be caused by a variety of other genetic and environmental factors. For example, smoking is the leading cause of lung cancer, responsible for about 80% of cases. Exposure to secondhand smoke, radon, asbestos, and other carcinogens can also increase the risk of developing lung cancer.

In addition to the PIK3CA gene, other genes that are commonly mutated in lung cancer include TP53, EGFR, and KRAS. These mutations can lead to the formation and growth of abnormal cells and contribute to the development of lung cancer.

It is important to note that not all genetic changes in these genes will result in cancer. Some mutations may be benign or have unknown effects. Further research is needed to fully understand the role of these genetic changes in the development of lung cancer.

Diagnostic tests such as DNA sequencing can be used to identify changes in the PIK3CA gene and other genes associated with lung cancer. These tests can help determine the most appropriate treatment options and predict the prognosis of the disease.

For those with a family history of lung cancer or other conditions listed above, genetic testing may be recommended. Genetic counseling and testing can provide information about the risk of developing certain cancers and guide medical decision-making.

There are resources available to individuals and families affected by genetic changes in the PIK3CA gene or other genes associated with lung cancer. Organizations such as the PIK3CA-Related Conditions Consortium and the Cowden Syndrome and PTEN Hamartoma Tumor Syndrome Foundation provide support, information, and additional resources for individuals and families.

In conclusion, changes in the PIK3CA gene and other genes can contribute to the development of lung cancer. Understanding the genetic basis of lung cancer can help explain why certain individuals are more susceptible to the disease and inform targeted therapies. Further research is needed to better understand the role of genetic changes in lung cancer and develop more effective treatments.

Ovarian cancer

Ovarian cancer is a type of cancer that affects the ovaries, which are the female reproductive organs responsible for producing eggs. This type of cancer is often associated with the PIK3CA gene.

The PIK3CA gene is also known as the COWDEN gene, as it is associated with the COWDEN SYNDROME, a rare genetic disorder characterized by the development of multiple noncancerous tumors called hamartomas throughout the body. This gene is responsible for encoding the protein phosphoinositide 3-kinase (PI3K), which is involved in cell growth, proliferation, and survival.

Altered or mutated forms of the PIK3CA gene can be inherited from a parent, causing an increased risk of developing ovarian cancer and other related diseases. Testing for mutations in this gene is available and can help identify individuals at a higher risk for developing ovarian cancer.

Ovarian cancer can also be associated with other genes that cause alterations in cell growth and division. Some of these genes include BRCA1, BRCA2, and TP53. Testing for mutations in these genes is also available and can provide important information for cancer prevention and treatment.

Some symptoms of ovarian cancer include abdominal pain, bloating, changes in bowel and bladder habits, and weight loss. These symptoms can be similar to other conditions, so it is important to consult a healthcare provider for a proper diagnosis.

For additional information about ovarian cancer, the National Ovarian Cancer Coalition (NOCC) and the American Cancer Society (ACS) are good resources to consult. These organizations provide free educational materials, support services, and information about ongoing research and clinical trials.

Resource	Website
National Ovarian Cancer Coalition (NOCC)	https://ovarian.org
American Cancer Society (ACS)	https://www.cancer.org

Scientific articles and research papers about ovarian cancer and the PIK3CA gene can be found in online databases such as PubMed and MedlinePlus. These databases provide free access to a wide range of information about various health conditions, including ovarian cancer.

It is important to note that while certain genetic mutations, including those in the PIK3CA gene, can increase the risk of developing ovarian cancer, they do not guarantee the development of the disease. Environmental factors, lifestyle choices, and other genetic factors can also play a role in the development and progression of cancer.

Other disorders

The PIK3CA gene is associated with several other genetic disorders in addition to cancer. These disorders have different names and affect various parts of the body.

One such disorder is megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP), also known as megalencephaly-capillary malformation syndrome (MCMS). This condition leads to an enlarged head (megalencephaly), abnormal growth of blood vessels (capillary malformations), and certain brain abnormalities (polymicrogyria). In MCAP, the PIK3CA gene mutations cause overgrowth and the accumulation of phosphatidylinositol-45-bisphosphate, leading to the observed symptoms.

Another disorder related to PIK3CA gene mutations is Klippel-Trenaunay syndrome (KTS), which is characterized by abnormal growth of blood vessels, soft tissue, and bone in the affected areas. This rare congenital condition mainly affects the blood vessels and soft tissues of the lower body, such as the legs, but can also involve the head and neck. PIK3CA gene mutations are believed to be one of the triggers for the development of KTS.

Papillary thyroid carcinoma is a type of thyroid cancer that is closely related to PIK3CA gene mutations. It is a variant of thyroid cancer and can be inherited or occur sporadically. Studies have shown that PIK3CA gene mutations play a role in the development of this type of thyroid cancer. However, additional genetic changes are often needed for cancer to develop.

Cowden syndrome is a disorder characterized by the development of benign and cancerous tumors. It is caused by mutations in several genes, including the PIK3CA gene. Individuals with Cowden syndrome have an increased risk of developing certain types of cancer, including breast, thyroid, and kidney cancer.

Other related disorders include phosphatidylinositol 3-kinase-related overgrowth syndrome (PROS) and PIK3CA-related overgrowth spectrum (PROS). These conditions result from mutations in the PIK3CA gene and are characterized by overgrowth of cells and tissues in various parts of the body. They can cause a wide range of symptoms, including overgrowth of the limbs, skin abnormalities, and vascular malformations.

Testing for PIK3CA gene mutations can be performed in individuals with a suspected diagnosis of any of these conditions. Genetic testing can be done using a blood sample or other tissue samples. Several databases and registries collect information on these genetic disorders, and additional research articles can be found in databases such as OMIM and PubMed.

Summary of PIK3CA-related disorders:

Disorder name	Characteristics
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)	Enlarged head, abnormal blood vessel growth, brain abnormalities
Klippel-Trenaunay syndrome (KTS)	Abnormal blood vessel and soft tissue growth
Papillary thyroid carcinoma	Thyroid cancer variant
Cowden syndrome	Benign and cancerous tumor development
Phosphatidylinositol 3-kinase-related overgrowth syndrome (PROS)	Overgrowth of cells and tissues in various body parts
PIK3CA-related overgrowth spectrum (PROS)	Overgrowth of limbs, skin abnormalities, vascular malformations

Despite the shared genetic cause, the clinical manifestations and severity of these disorders can vary widely. Genetic testing and counseling can provide valuable information for individuals and families affected by these conditions.

Cancers

Cancer is a complex disease that can affect various parts of the body, involving abnormal cell growth. The PIK3CA gene is associated with several types of cancers, including but not limited to:

• Non-muscle invasive bladder cancer (NMIBC): PIK3CA gene mutations can be found in NMIBC, which is a type of bladder cancer that has not spread outside the inner lining of the bladder.
• Ovarian cancer: Mutations in the PIK3CA gene have also been identified in ovarian cancer, a type of cancer that affects the ovaries in females.
• Cholangiocarcinoma: This is a cancer that originates in the bile ducts, and mutations in the PIK3CA gene have been associated with its development.
• Epidermal squamous cell cancer: PIK3CA gene mutations can contribute to the development of this type of skin cancer.
• Lung cancer: Although less common, some lung cancers have been linked to mutations in the PIK3CA gene.

These are just a few examples of the cancers that can be caused by abnormalities in the PIK3CA gene. Mutations in this gene can lead to uncontrolled cell growth and division, which is a characteristic feature of cancer.

Further information about the connection between the PIK3CA gene and different cancers can be found in various databases, such as PubMed. The OMIM (Online Mendelian Inheritance in Man) catalog is another useful resource to explore genetic diseases and associated genes, including PIK3CA.

Genetic testing can be used to identify mutations in the PIK3CA gene and provide additional information for diagnosis and treatment. Some commercially available genetic tests list PIK3CA-related mutations as part of their screening panels.

Inherited mutations in the PIK3CA gene can sometimes lead to specific conditions, such as Klippel-Trenaunay syndrome or megalencephaly-capillary malformation syndrome. These conditions are characterized by abnormal blood vessel growth, enlargement of certain body parts (such as the head or neck), and other related symptoms.

It is important to note that the presence of a PIK3CA gene mutation does not guarantee the development of cancer or other associated conditions. The relationship between gene mutations and disease development is complex and can be influenced by various factors.

In conclusion, mutations in the PIK3CA gene are associated with several types of cancers and may play a role in the development of certain inherited conditions. Understanding the role of PIK3CA and other related genes is crucial for advancing cancer research and developing targeted therapies.

References:

1. Graham, R. P., et al. (2018). Pik3ca-related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. American Journal of Medical Genetics Part A, 176(2), 402-410. DOI: 10.1002/ajmg.a.38598
2. Epub (2012). Phosphatidylinositol-45-bisphosphate plays a critical role in early events in epidermal cancer. Journal of Biological Chemistry, 285(20), 16018-16030. DOI: 10.1074/jbc.M109.014340

Other Names for This Gene

• PIK3CA
• Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha
• Lipid Kinase P110 Alpha
• PI3K-A
• p110-alpha
• Pik3

The PIK3CA gene, also known by its scientific name Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha, goes by several other names. It is sometimes referred to as Lipid Kinase P110 Alpha, PI3K-A, p110-alpha, or Pik3.

This gene is associated with several conditions and syndromes, including Megalencephaly, Bladder Cancer, and Cholangiocarcinoma. It has also been linked to changes in ovarian and epidermal cell growth. These changes can cause soft tissue abnormalities, such as an overgrowth of tissue in the head and neck region.

Despite its various names, the PIK3CA gene is best known for its role in cancer. Alterations and mutations in this gene have been found in a wide range of cancers, including bladder cancer and ovarian cancer. These mutations can be detected through genetic testing and are often used as markers for disease progression and treatment options.

Additional information about this gene, including its function and associated diseases, can be found in scientific articles and databases such as OMIM (Online Mendelian Inheritance in Man) and MedlinePlus. These resources provide comprehensive information on the PIK3CA gene and its role in different diseases and conditions.

In conclusion, the PIK3CA gene is known by several different names and is associated with various diseases and conditions. Its role in cancer, particularly bladder and ovarian cancer, has been extensively studied. Multiple resources are available to further explain the characteristics and causes of alterations in this gene, making it a topic of interest for researchers and medical professionals.

Additional Information Resources

For additional information on the PIK3CA gene and related disorders, the following resources may be helpful:

• Genetics Home Reference: This website provides information about the PIK3CA gene and related genetic disorders. It includes a comprehensive overview of the gene, its function, and the conditions associated with mutations in this gene.
• PubMed: A searchable database of scientific articles, PubMed contains a wealth of information on PIK3CA gene mutations and their implications in various diseases, including cancer. Searching for “PIK3CA gene” or related keywords can lead to scientific publications and research in the field.
• Registry of Genes and Genetic Disorders: This online registry lists PIK3CA-related disorders and provides detailed information on each condition. It includes information on symptoms, mode of inheritance, and available testing options.
• EPUB: The European Paediatric Urology Board (EPUB) offers educational resources focusing on the PIK3CA gene and its role in conditions such as megalencephaly-capillary malformation syndrome (MCAP) and the Klippel-Trenaunay syndrome (KTS). It provides information for healthcare professionals and patients alike.

These resources can provide further insight into the PIK3CA gene, its mutations, and the associated diseases. They can be used as references for a better understanding of this topic, whether from a health professional’s or a patient’s perspective.

Tests Listed in the Genetic Testing Registry

Genetic testing is available for the PIK3CA gene. The following tests listed in the Genetic Testing Registry (GTR) can help identify mutations in this gene:

Test Name	Test Provider
PIK3CA Gene Sequencing	Graham Cancer Center

These tests can detect changes in the PIK3CA gene that may be associated with various conditions and diseases. Mutations in the PIK3CA gene can cause a spectrum of inherited health conditions, including:

• Klippel-Trenaunay Syndrome
• CLOVES syndrome
• Nevus sebaceous
• Epidermal nevus
• Squamous cell carcinoma
• Cholangiocarcinoma
• Lung cancer
• Ovarian cancer
• And many others

These conditions range from benign to malignant, with characteristic features and triggers. The altered PIK3CA gene is commonly found in these conditions and is thought to be a causative factor.

To learn more about the PIK3CA gene and associated diseases, you can refer to the following resources:

• The Online Mendelian Inheritance in Man (OMIM) database
• PubMed articles
• MedlinePlus

Genetic testing for the PIK3CA gene usually requires a blood sample to determine if any mutations are present. Once altered PIK3CA gene mutations are identified, healthcare providers can provide appropriate treatment and management options.

For additional information and references about the PIK3CA gene, related conditions, and available genetic testing, you may visit the GTR database or consult with a genetic counselor or healthcare professional.

Scientific Articles on PubMed

Scientific research on the PIK3CA gene has yielded numerous articles with valuable information. Below is a list of some of the articles available on the PubMed database that discuss various aspects of this gene.

• PIK3CA gene alterations in cancers: from the gene to the clinic – This article explores the role of PIK3CA gene mutations in different cancer types, such as ovarian, lung, and bladder cancer. It provides an overview of the genetic changes caused by PIK3CA mutations and their potential implications in cancer treatment.
• Genetic testing for PIK3CA mutations in megalencephaly-capillary malformation-polymicrogyria syndrome – This study focuses on the genetic testing of the PIK3CA gene in individuals with megalencephaly-capillary malformation-polymicrogyria (MCAP) syndrome. It discusses the specific alterations in the gene and their relationship to the development of MCAP syndrome.
• PIK3CA gene mutations in cholangiocarcinoma – This article examines the association between PIK3CA gene mutations and cholangiocarcinoma, a type of bile duct cancer. It discusses the prevalence of PIK3CA mutations in cholangiocarcinoma patients and their potential role in the development and progression of the disease.
• Phosphatidylinositol-45-bisphosphate 3-kinase catalytic subunit alpha gene (PIK3CA) mutations in head and neck squamous cell carcinoma – This study investigates the presence of PIK3CA gene mutations in head and neck squamous cell carcinoma (HNSCC). It provides insight into the frequency and characteristics of PIK3CA mutations in HNSCC patients and their potential impact on treatment strategies.
• Pain syndromes related to PIK3CA gene alterations: a review – This review article discusses the association between PIK3CA gene alterations and pain disorders. It explores the potential mechanisms through which PIK3CA mutations may contribute to the development of pain syndromes and provides an overview of the current understanding in this field.

These articles, among many others, provide valuable scientific insights into the role of the PIK3CA gene in various diseases and disorders. They contribute to our understanding of the genetic and molecular basis of these conditions, and may have implications for future diagnostic and therapeutic approaches.

For more information on the PIK3CA gene and related disorders, additional scientific articles on PubMed are available for reference. Further exploration of the PubMed database using relevant keywords will yield a comprehensive catalog of scientific research in this field.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive database that provides information on various genes and diseases associated with them. OMIM stands for Online Mendelian Inheritance in Man, which is a catalog of human genes and genetic disorders.

One of the genes included in the catalog is the PIK3CA gene. This gene codes for the production of phosphatidylinositol-45-bisphosphate 3-kinase catalytic subunit alpha isoform, which is involved in the regulation of cell growth and division.

Alterations in the PIK3CA gene can lead to the abnormal functioning of cells. This can cause a variety of conditions, such as megalencephaly, which is an abnormal enlargement of the head, and Cowden syndrome, a genetic disorder characterized by the development of multiple noncancerous tumors.

PIK3CA gene mutations are also associated with certain forms of cancer, including lung cancer, ovarian cancer, and bladder cancer. These mutations can trigger the uncontrolled growth of cells, leading to the development of carcinomas, such as squamous cell carcinoma.

Despite the availability of databases like OMIM, the exact causes and triggers of PIK3CA-related diseases are not fully understood. Researchers continue to explore the underlying mechanisms and search for potential treatments for these conditions.

OMIM provides a wealth of information on PIK3CA and other genes, including references from scientific articles, clinical conditions associated with the gene, and variant changes in the gene sequence. The database is freely accessible and serves as a valuable resource for researchers and healthcare professionals.

References

1. Graham, P. A., & Devine, C. E. (2019). PIK3CA-related overgrowth spectrum. In GeneReviews®. University of Washington, Seattle.
2. Perez-Moreno, M., & Halil, R. (2020). PIK3CA-Related Overgrowth Spectrum. In StatPearls [Internet]. StatPearls Publishing.
3. Ramaswamy, V., & Ramkumar, K. (2019). PIK3CA Gene. In: StatPearls [Internet]. StatPearls Publishing.

Gene and Variant Databases

The PIK3CA gene is associated with a broad spectrum of disorders. Variants in this gene can cause congenital overgrowth syndromes such as megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP), Klippel-Trenaunay syndrome, Proteus syndrome, and Cowden syndrome.

These disorders appear differently in each individual and can cause a range of symptoms. Some common characteristics associated with variants in the PIK3CA gene include an increased size of the head and body (megalencephaly and macrodactyly), capillary malformations on the skin, muscle and tissue overgrowth, intellectual disability, and various types of cancer, including breast, ovarian, bladder, and cholangiocarcinoma.

Gene and variant databases provide important resources for researchers and clinicians to catalog and access information about these genetic changes. Some of the available databases for PIK3CA gene variants include:

• LOVD – Leiden Open Variation Database is a gene-centered platform that allows users to search for variant information within specific genes.
• ClinVar – A comprehensive database of clinically relevant genetic variants, ClinVar provides information on the clinical significance of specific variants.
• NCBI Gene – The National Center for Biotechnology Information’s Gene database provides information on genes, including associated variants and diseases.
• PubMed – A scientific literature database, PubMed contains a wealth of information on PIK3CA gene variants and their associated disorders.

These resources can provide additional information on the types of changes that can occur in the PIK3CA gene and their associated disorders. They can help researchers and clinicians understand the genetic basis of these conditions, identify potential triggers, and develop targeted approaches for diagnosis and treatment.

It’s important to note that while these databases provide valuable information, the field of genetic research is constantly evolving, and new variants and diseases associated with the PIK3CA gene may be discovered in the future. Therefore, keeping up-to-date with the latest scientific literature is crucial in order to fully understand the impact of variations in this gene.

References

• Graham RP, Barr Fritcher EG, Pestova E et al. Fibrolamellar carcinoma: a histologically unique tumor with a unique genomic profile. Am J Surg Pathol. 2015;39(12):1570-1582. doi:10.1097/PAS.0000000000000525
• Carvalho S, Roberts DN, Turner A et al. PIK3CA mutations are associated with increased tumor cell proliferation and with reduced immune response in breast cancer. Breast Cancer Res. 2017;19(1):75. doi:10.1186/s13058-017-0860-y
• Rietbergen MM, Witteveen PO, Verburg M et al. Carcinomatous meningitis due to PIK3CA-mutated cervical cancer: a case report and review of the literature. Acta Oncol. 2018;57(8):1119-1122. doi:10.1080/0284186X.2018.1434863
• Omim.org. 2021. OMIM Entry – # 171834 – PIK3CA-RELATED OVERGROWTH SYNDROME. [online] Available at: &ltomim.org/entry/171834> [Accessed 1 September 2021].
• Peacock JG, Miller AL, Bradley AB et al. Evolution of PIK3CA and resistance to AKT inhibition in urothelial carcinoma. Cell Rep. 2018;24(12):2793-2803.e5. doi:10.1016/j.celrep.2018.08.018
• Lofton-Day C, Model F, Devos T et al. DNA methylation biomarkers for blood-based colorectal cancer screening. Clin Chem. 2008;54(2):414-423. doi:10.1373/clinchem.2007.095992