The TP53 gene, also known as the tumor protein 53, is a key gene involved in the control of the cell cycle and the prevention of cancerous growth. Mutations in this gene have been found in various types of cancer, including cholangiocarcinoma, a rare form of liver cancer that originates in the cells of the bile ducts.

As a tumor suppressor gene, TP53 plays a vital role in regulating cell division and repairing DNA damage. When the gene is functioning properly, it can initiate cell cycle arrest, DNA repair, or apoptosis (cell death) in response to DNA damage or other abnormalities. However, changes in the TP53 gene can lead to the loss of its tumor suppressor function, resulting in the uncontrolled growth of cancer cells.

Genetic changes in the TP53 gene are often associated with Li-Fraumeni syndrome, a rare inherited disorder characterized by a high risk of developing several types of cancers, including cholangiocarcinoma, breast cancer, brain tumors, and sarcomas. Individuals with Li-Fraumeni syndrome typically inherit one altered copy of the TP53 gene, making them more susceptible to cancer development.

Understanding the function and regulation of the TP53 gene is of great importance for the development of targeted cancer therapies. Research on TP53 has led to the identification of additional genes and proteins involved in the TP53 network, which could be potential targets for novel cancer treatments. Additionally, the TP53 gene has been extensively studied in the context of other diseases and conditions, such as wilms tumor, neck squamous cell carcinoma, and radiation-induced cancers.

In conclusion, the TP53 gene is a crucial gene involved in the control of cell growth and the prevention of cancer development. Mutations in this gene, especially in the context of Li-Fraumeni syndrome, can significantly increase the risk of various cancers, including cholangiocarcinoma. Understanding the function and regulation of TP53 could lead to breakthroughs in cancer treatment and the development of targeted therapies.

Health Conditions Related to Genetic Changes

Genetic changes in the TP53 gene have been associated with various health conditions. When this gene is unable to function properly, it can lead to the development of cancerous tumors. TP53 is responsible for producing a protein that helps control cell growth and division. Without the proper function of this gene, cells may multiply uncontrollably, leading to the formation of tumors.

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Some of the specific health conditions associated with TP53 gene changes include:

• Li-Fraumeni syndrome: A hereditary condition characterized by an increased risk of developing several types of cancer, including breast cancer, ovarian cancer, lung cancer, and sarcoma.
• Wilms tumor: A type of kidney cancer that primarily affects children.
• Melanoma: A type of skin cancer that arises from the cells that produce pigment. TP53 gene changes have been observed in some cases of melanoma.
• Ovarian cancer: Changes in the TP53 gene have been found in some cases of ovarian cancer.
• Head and neck cancers: TP53 gene changes have been associated with the development of various head and neck cancers, including squamous cell carcinoma and cholangiocarcinoma.
• Lung cancer: TP53 gene changes are commonly observed in certain types of lung cancer.

In addition to these conditions, TP53 gene changes have also been linked to other types of cancer, such as breast carcinoma and pancreatic cancer. The scientific community continues to study the exact role of TP53 in the development of these diseases and how its genetic changes specifically contribute to tumor formation.

To determine if an individual carries genetic changes in the TP53 gene, genetic testing can be performed. Several resources, such as the TP53 Gene Mutation Database and the Li-Fraumeni Syndrome Association’s Online Member Registry, provide information on available genetic testing resources and guidelines.

It is important to note that not all individuals with TP53 gene changes will develop cancer or other health conditions. The presence of these genetic changes only increases the risk of developing certain diseases. Regular check-ups, screenings, and tests can help detect any potential health issues early on, allowing for timely intervention and treatment.

Breast cancer

Breast cancer is a type of cancer that originates in the breast tissue. It is one of the most common tumors in women and can also occur in men, although rare.

It has been observed that individuals with mutations in the TP53 gene, which is associated with Li-Fraumeni syndrome, have a higher risk of developing breast cancer. Li-Fraumeni syndrome is a hereditary cancer syndrome characterized by a predisposition to soft tissue sarcomas, various other tumors, and a high lifetime risk of developing multiple primary cancerous tumors.

Research articles and databases specifically address the correlation between TP53 gene mutations and breast cancer. These studies have shown that individuals with TP53 mutations have an increased risk of developing breast cancer, without a specific association with ovarian cancer risk.

TP53 is a tumor suppressor gene, meaning it helps regulate cell division and prevent the formation of cancerous cells. When the TP53 gene is damaged or mutated, it is unable to properly control cell division. This can result in the uncontrolled growth of cells and the development of breast cancer.

There are several subtypes of breast cancer, including invasive ductal carcinoma, invasive lobular carcinoma, and inflammatory breast cancer. Each subtype has different characteristics and may require different treatment approaches.

Genetic testing can be used to identify mutations in the TP53 gene and other genes associated with breast cancer. This testing can help determine an individual’s risk for developing breast cancer and guide treatment decisions.

In addition to TP53 mutations, certain other genetic variants have also been associated with an increased risk of breast cancer. The BRCA1 and BRCA2 genes, for example, are well-known breast cancer susceptibility genes. Mutations in these genes can significantly increase the lifetime risk of developing breast cancer.

Treatment for breast cancer often involves a combination of surgery, radiation therapy, chemotherapy, and targeted therapy. The specific treatment approach will depend on the stage and characteristics of the tumor.

In summary, breast cancer is a complex disease that can be influenced by genetic factors such as TP53 gene mutations. Understanding the role of these genes and genetic testing can help in the prevention, diagnosis, and treatment of breast cancer.

Bladder cancer

Bladder cancer is a type of cancer that affects the cells of the bladder. It is the result of genetic changes in the TP53 gene, which is responsible for controlling cell growth and division. Mutations in the TP53 gene can lead to the uncontrolled growth of cells, eventually giving rise to a tumor in the bladder.

The TP53 gene, also known as the p53 gene, is located on chromosome 17 in humans. It plays a crucial role in monitoring the integrity of the genome and initiating DNA repair processes when necessary. When the TP53 gene is functioning properly, it can detect damaged DNA and either repair it or trigger cell death to prevent the propagation of damaged cells.

However, mutations in the TP53 gene can disrupt its normal function and lead to the accumulation of damaged cells. These damaged cells can eventually become cancerous and form tumors in the bladder. Bladder cancer can be further divided into different subtypes, including squamous cell carcinoma, adenocarcinoma, and small cell carcinoma.

Individuals with certain genetic conditions, such as Li-Fraumeni syndrome, are at an increased risk of developing bladder cancer. Li-Fraumeni syndrome is caused by inherited mutations in the TP53 gene, and individuals with this syndrome have a higher likelihood of developing various types of cancers, including bladder cancer.

The diagnosis of bladder cancer usually involves various tests, including imaging studies, urine tests, and tissue biopsies. Additional genetic testing may also be recommended to identify specific genetic changes associated with bladder cancer and to better inform treatment options.

Treatment for bladder cancer depends on the stage and type of the tumor. It may involve surgery to remove the tumor, chemotherapy, radiation therapy, or immunotherapy. The choice of treatment may also be influenced by the presence of specific genetic changes in the TP53 gene.

There are several resources available for individuals seeking more information on bladder cancer and its genetic aspects. Online databases and registries, such as PubMed and the TP53 Mutation Database, provide access to scientific articles, references, and genetic data related to bladder cancer. These resources can be a valuable source of information for patients, healthcare providers, and researchers.

In conclusion, bladder cancer is a type of cancer that can result from genetic changes in the TP53 gene. These changes disrupt the normal function of the TP53 gene, leading to the accumulation of damaged cells and the formation of tumors in the bladder. Genetic testing can provide additional information on specific genetic changes associated with bladder cancer and help guide treatment decisions.

Cholangiocarcinoma

Cholangiocarcinoma is a type of cancer that originates in the cells of the bile ducts. The bile ducts are small tubes that transport bile acids from the liver to the small intestine. Cholangiocarcinoma is often described as a rare and aggressive tumor. It can occur in different parts of the bile ducts, including the intrahepatic (located inside the liver) and extrahepatic (located outside the liver) regions.

Cholangiocarcinoma has been associated with a number of risk factors, including certain genetic mutations. The TP53 gene, also known as the Li-Fraumeni Syndrome gene, has been found to be related to this type of tumor. TP53 is a crucial gene that codes for a protein called p53, which has a significant role in controlling cell growth and preventing the formation of tumors.

Individuals with hereditary mutations in the TP53 gene are unable to effectively control the growth of abnormal cells. This can lead to the development of various cancers, including cholangiocarcinoma. Other cancers associated with TP53 mutations include ovarian cancer, bone cancer, and certain types of soft tissue cancers.

Testing for TP53 mutations can be carried out to determine the presence of these genetic changes. This information can provide valuable resources for the management and treatment of cholangiocarcinoma. Additionally, testing for TP53 mutations can help identify individuals at a higher risk of developing other cancers associated with this gene.

Cholangiocarcinoma cells accumulate various genetic and molecular changes, which contribute to the uncontrollable growth of these cancerous cells. Molecular changes in genes such as TP53, along with the accumulation of additional mutations, can lead to the uncontrolled multiplication of cholangiocarcinoma cells.

Scientists have been studying the nature of cholangiocarcinoma extensively to better understand the disease and develop effective treatments. Various scientific articles and studies have been published on this topic, providing valuable information for researchers and healthcare professionals.

Cholangiocarcinoma can also be related to other risk factors such as chronic inflammation of the bile ducts, certain liver diseases, and exposure to toxins or parasites. The exact causes of cholangiocarcinoma are still being researched, and additional information is constantly being gathered to better prevent, diagnose, and treat this type of cancer.

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 often associated with mutations in the TP53 gene, which is responsible for regulating cell growth and preventing the formation of tumors. This gene acts as a tumor suppressor, meaning that it helps control the growth and division of cells. When the TP53 gene is damaged or mutated, the cells are unable to control their growth, leading to the development of tumors.

HNSCC is a complex disease that can be influenced by various factors. Individuals with certain risk factors, such as tobacco and alcohol use, are more likely to develop HNSCC. In addition to these lifestyle choices, genetic changes in the TP53 gene and other related genes can also increase the risk of developing this type of cancer. Some individuals may also have a hereditary condition called Li-Fraumeni syndrome, which is characterized by an inherited mutation in the TP53 gene and an increased risk of developing multiple types of cancer, including HNSCC.

HNSCC can manifest in different ways depending on the affected region. It can occur in the oral cavity, throat, larynx, or other parts of the head and neck. The tumors can vary in size and nature, with some being small and localized and others being more advanced and metastatic. HNSCC is generally classified as a squamous cell carcinoma, which means that it originates from the squamous cells that line the inside of the throat and mouth. These cells are flat and thin, and their role is to protect the underlying tissue.

Diagnosing HNSCC typically involves a combination of physical examination, imaging tests, and biopsy. Doctors may also use additional tests to determine the stage and extent of the cancer. Depending on the results, treatment options may include surgery, radiation therapy, chemotherapy, or targeted therapy. Early detection and treatment of HNSCC can greatly improve outcomes and increase the chances of a successful recovery.

Associated Conditions and Syndromes

Condition/Syndrome	Associated Gene
Li-Fraumeni syndrome	TP53
Wilms tumor	TP53
Melanoma	TP53
Lung cancer	TP53
Soft tissue sarcoma	TP53
Bone cancer	TP53

TP53 Gene and Head and Neck Squamous Cell Carcinoma

The TP53 gene plays a central role in controlling cell growth and preventing tumor formation. When this gene is mutated or damaged, cells are unable to suppress tumor growth, leading to the development of various types of cancer, including head and neck squamous cell carcinoma. The TP53 gene is specifically associated with the development and progression of HNSCC.

To study the relationship between TP53 gene changes and HNSCC, scientists utilize various databases and scientific articles. PubMed, a widely used scientific database, contains numerous articles and studies focusing on TP53 gene mutations and their association with head and neck squamous cell carcinoma. The TP53 Mutation Database is another resource that catalogs TP53 gene changes and their impact on health and disease. These databases provide valuable information for researchers, clinicians, and individuals interested in this area of study.

In conclusion, head and neck squamous cell carcinoma is a type of cancer that arises from cells in the head and neck region. Mutations in the TP53 gene and other related genes play a crucial role in the development and progression of this disease. Understanding the genetic changes associated with HNSCC can help in the development of more targeted and effective treatment options.

Li-Fraumeni syndrome

Li-Fraumeni syndrome (LFS) is a rare genetic disorder that is associated with an increased risk of developing various types of cancer. It is caused by mutations in the TP53 gene, which is responsible for regulating cell division and preventing the formation of tumors.

Individuals with LFS have a significantly higher risk of developing cancer, often at a young age. The most commonly associated cancers include:

• Soft tissue sarcoma
• Osteosarcoma
• Breast cancer
• Brain tumors
• Adrenal gland tumors
• Leukemia

In addition to these cancers, individuals with LFS may also be at an increased risk for other types of cancer such as lung cancer, bladder cancer, Wilms tumor (a type of kidney cancer), cholangiocarcinoma (a type of bile duct cancer), and melanoma (a type of skin cancer).

LFS is generally inherited in an autosomal dominant pattern, which means that individuals who inherit a mutated copy of the TP53 gene from one parent have a 50% chance of developing LFS. However, in some cases, LFS can also occur without a family history of the syndrome due to spontaneous mutations in the TP53 gene.

The TP53 gene plays a crucial role in preventing the uncontrollable growth of cells and promoting their programmed death when necessary. Mutations in this gene result in a loss of its tumor suppressor function, allowing cells to multiply freely and form cancerous tumors.

Diagnosis of LFS is typically confirmed through genetic testing to identify TP53 gene mutations. Individuals who have a family history of LFS or who have been diagnosed with multiple cancers at a young age may undergo testing for TP53 mutations.

Management and treatment options for LFS include regular cancer screenings and surveillance to detect tumors at an early stage when they are more treatable. Additionally, individuals with LFS may undergo prophylactic surgeries to remove tissues or organs that are at a higher risk of developing cancer.

The Li-Fraumeni Syndrome Association, in collaboration with scientific and medical professionals, has established a registry to collect information on individuals with LFS and to facilitate research on the syndrome. This resource provides a network for patients and their families to access information and support.

References:

1. Catalog of genes and diseases. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/sites/GeneTests/catalog-genetics
2. Hainaut, P., & Pfeifer, G. P. (2016). Patterns of TP53 mutations in human cancers:​ ​twenty years later. Oncogene, 26(15), 2156–2165. doi: 10.1038/sj.onc.1210325
3. Li-Fraumeni syndrome. (n.d.). Retrieved from https://omim.org/entry/151623
4. Li-Fraumeni Syndrome Association. (n.d.). Retrieved from https://lfsassociation.org/index.php
5. Li-Fraumeni syndrome. (n.d.). Retrieved from https://pubmed.ncbi.nlm.nih.gov/15983918/

Lung cancer

Lung cancer is a type of cancer that is associated with the mutation of the TP53 gene. This gene is primarily involved in controlling cell division and preventing the growth of tumors. However, when the TP53 gene is mutated, it cannot properly regulate cell division, leading to the formation of cancerous cells in the lungs.

Lung cancer can be divided into two main types: non-small cell lung cancer (NSCLC) and small cell lung cancer (SCLC). NSCLC is the most common type of lung cancer and includes subtypes such as adenocarcinoma, squamous cell carcinoma, and large cell carcinoma. SCLC is less common but generally has a higher growth rate and is more likely to spread to other parts of the body.

Individuals with a mutation in the TP53 gene, particularly those with Li-Fraumeni syndrome, are at a higher risk of developing lung cancer. Li-Fraumeni syndrome is a hereditary condition characterized by the accumulation of multiple different types of cancer, including lung cancer.

Exposure to certain risk factors, such as smoking, exposure to radiation, and asbestos, can also increase the likelihood of developing lung cancer. Smoking, in particular, is the leading cause of lung cancer and is responsible for the majority of lung cancer cases worldwide.

Symptoms of lung cancer can vary but often include persistent cough, chest pain, shortness of breath, and coughing up blood. Diagnosis of lung cancer usually involves imaging tests, such as chest X-rays and CT scans, as well as biopsy to examine the lung tissue for cancer cells.

Treatment options for lung cancer depend on several factors, including the type and stage of the cancer. Treatment may include surgery to remove the tumor, chemotherapy to kill cancer cells, radiation therapy to destroy cancer cells, targeted therapy that specifically targets cancer cells, or immunotherapy to help the immune system fight cancer cells.

Overall, the TP53 gene mutation plays a significant role in the development of lung cancer. Understanding the genetics and underlying mechanisms of lung cancer is crucial for the development of effective prevention and treatment strategies for this deadly disease.

Melanoma

Melanoma is a type of skin cancer that originates from the melanocytes, which are the cells responsible for producing the pigment melanin. Melanoma is known to be caused by genetic mutations, and one of the genes implicated in its development is the TP53 gene. Mutations in the TP53 gene can accumulate in melanoma cells, leading to the loss of its normal function.

The TP53 gene, also known as the “guardian of the genome,” plays a crucial role in preventing the formation of cancerous cells. It regulates cell division and triggers apoptosis (cell death) in cells with damaged DNA. However, mutations in the TP53 gene can disrupt its function, allowing cancer cells to multiply and form tumors.

Individuals with certain genetic conditions, such as Li-Fraumeni syndrome, have an increased risk of developing melanoma due to mutations in the TP53 gene. Li-Fraumeni syndrome is characterized by a significantly higher risk of developing multiple types of cancers, including melanoma, breast carcinoma, ovarian cancer, and cholangiocarcinoma.

The TP53 gene is located on the short arm of chromosome 17 and has been found to undergo various changes in melanoma. These changes can be identified through genetic testing, which is commonly performed to assess the risk of developing melanoma or other cancers associated with TP53 mutations.

According to scientific articles listed in PubMed and OMIM (Online Mendelian Inheritance in Man) resources, mutations in the TP53 gene are not only associated with melanoma but also with many other cancers, including lung, ovarian, and breast cancer. The TP53 gene mutations are specifically implicated in Li-Fraumeni syndrome, where germline mutations are inherited and increase the risk of multiple cancers.

Additional protein changes, such as the accumulation of p53 protein and the loss of its function, have been described in melanoma. These changes play a central role in the development and progression of the disease. Testing for TP53 mutations and protein alterations is necessary for accurate diagnosis and targeted treatment of melanoma.

In summary, melanoma is a type of skin cancer that arises from the melanocytes. Mutations in the TP53 gene, which is responsible for regulating cell division and DNA repair, can lead to the development of melanoma. Genetic testing can help identify these mutations and guide the management of individuals at risk for melanoma and other cancers associated with TP53 mutations.

Ovarian cancer

Ovarian cancer is a type of cancer that affects the ovaries, which are located in the lower abdomen of women. It is characterized by the uncontrollable multiplication of cancerous cells in the ovarian tissue.

Ovarian cancer can be classified into different types, including epithelial carcinoma, stromal carcinoma, and germ cell tumors. Epithelial carcinoma is the most common type of ovarian cancer, accounting for about 90% of all cases. Stromal carcinoma and germ cell tumors are less common but still pose a significant risk to women’s health.

There are several risk factors associated with ovarian cancer, including a family history of the disease, mutations in certain genes such as BRCA1 and BRCA2, and certain changes in the TP53 gene. Mutations in the TP53 gene can also cause a hereditary syndrome called Li-Fraumeni syndrome, which increases the risk of developing ovarian cancer, as well as other types of cancer such as breast cancer, lung cancer, and cholangiocarcinoma.

Research studies have shown that certain changes in the TP53 gene can accumulate in the cells of ovarian carcinomas, leading to the uncontrolled growth of these cancer cells. These changes in the TP53 gene are called TP53 mutations and are generally associated with a poorer prognosis for patients.

Scientists and researchers have been studying the TP53 gene and its role in ovarian cancer by using various scientific databases and resources. Some of these databases include PubMed, OMIM, and the Catalog of Somatic Mutations in Cancer (COSMIC). These databases provide valuable information about TP53 mutations, as well as other genetic changes and mutations associated with ovarian cancer.

To diagnose ovarian cancer, doctors may perform various tests, including imaging tests, blood tests, and biopsies. One common test used to detect ovarian cancer is the CA-125 blood test, which measures the levels of a certain antigen in the blood. However, it is important to note that this test is not specific for ovarian cancer and can also be elevated in other conditions.

Treatment options for ovarian cancer include surgery, chemotherapy, and radiation therapy. The choice of treatment will depend on the stage of the cancer and other individual factors. In some cases, targeted therapies that specifically target certain proteins or genetic changes in cancer cells may also be used.

In conclusion, ovarian cancer is a serious disease that affects the ovaries in women. It is characterized by the uncontrollable multiplication of cancerous cells in the ovarian tissue. Genetic changes, including TP53 mutations, play a significant role in the development and progression of ovarian cancer. Early detection and treatment are crucial in improving the outcomes for patients with ovarian cancer.

Wilms tumor

Wilms tumor is a type of cancerous tumor that originates from the tissue of the kidney. It is most commonly found in children, especially those under the age of 5. Wilms tumor is named after Dr. Max Wilms, who first described this condition in 1899.

Genetic testing for the TP53 gene mutation is recommended for individuals with a family history of Wilms tumor, as well as for those with Li-Fraumeni syndrome, a genetic condition associated with a higher risk of developing various types of cancers, including Wilms tumor.

Changes or mutations in the TP53 gene can lead to the development of various types of tumors, including Wilms tumor. The TP53 gene is responsible for producing a protein that helps control cell growth and prevents the formation of cancerous cells.

Wilms tumor can also be associated with other genetic syndromes, such as the WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) and the Beckwith-Wiedemann syndrome.

For more information on Wilms tumor, its genetic implications, and available resources, you can refer to the following databases and websites:

• OMIM (Online Mendelian Inheritance in Man) database
• Pubmed
• ClinVar database
• Li-Fraumeni syndrome research registry

These resources provide comprehensive information about the genetic and clinical aspects of Wilms tumor, including diagnostic testing, treatment options, and ongoing research studies. Scientists and researchers use these resources to gather and accumulate data to further understand the nature of Wilms tumor and develop better methods for diagnosis and treatment.

It is important to note that not all cases of Wilms tumor are directly associated with genetic mutations. Some cases occur sporadically, without any known genetic factors. The specific causes of Wilms tumor are still being studied.

Wilms tumor is typically treated with a combination of surgery, radiation therapy, and chemotherapy, depending on the stage of the tumor and the overall health of the patient. Timely diagnosis and appropriate treatment methods significantly improve the prognosis for individuals with Wilms tumor.

Common associated conditions and tissue types:

Condition	Tissue Type
Li-Fraumeni syndrome	Breast, ovarian, bone, brain, soft tissue, and other cancers
WAGR syndrome	Wilms tumor, aniridia, genitourinary anomalies, mental retardation
Beckwith-Wiedemann syndrome	Wilms tumor, abdominal wall defects, macroglossia, and growth abnormalities
Li-Fraumeni syndrome variant	Early-onset breast cancer, certain types of sarcomas
Ovarian carcinoma	Ovarian cancer
Squamous cell carcinoma of the head and neck	Head and neck cancers
Cholangiocarcinoma	Bile duct cancers

Other cancers

TP53 gene mutations can lead to an increased risk of developing various other types of cancer, in addition to the well-known association with breast and ovarian cancer.

Some of the other cancers associated with TP53 gene mutations include:

• Lung carcinoma: TP53 mutations are frequently found in lung carcinomas, particularly in those caused by tobacco smoking.
• Head and neck carcinoma: TP53 mutations are common in cancerous tumors located in the head and neck region.
• Bladder carcinoma: TP53 mutations are found in a significant proportion of bladder carcinomas.
• Cholangiocarcinoma: TP53 mutations have been observed in cholangiocarcinoma, a type of cancer that affects the bile ducts.
• Ovarian carcinoma: TP53 mutations are associated with increased risk of ovarian carcinoma.
• Small cell lung carcinoma: TP53 mutations are frequently present in small cell lung carcinoma, a highly aggressive and fast-growing lung cancer.
• Neck carcinoma: TP53 mutations have been observed in tumors located in the neck region.
• Wilms tumor: TP53 mutations are found in a subset of Wilms tumors, which are kidney tumors most commonly affecting children.
• Melanoma: TP53 mutations can also be found in malignant melanoma, a type of skin cancer.

These are just some of the cancers that can be associated with TP53 mutations. Genetic testing for TP53 mutations and regular screening for these specific cancer types can be helpful in the early detection and management of these conditions. Individuals with a family history of the Li-Fraumeni syndrome, which is caused by TP53 mutations, may be referred to a specialized registry or clinic for further evaluation and testing.

For further information on TP53 gene mutations, related cancer types, and screening recommendations, please refer to the scientific articles and resources listed in the references section.

Other Names for This Gene

The TP53 gene is also known by the following names:

• P53 gene
• CMD1C gene
• FLJ92943 gene
• LFS1 gene
• P53 cancer susceptibility gene

These alternative names reflect the various aspects and functions of the TP53 gene. The TP53 gene is associated with certain inherited syndromes, such as Li-Fraumeni syndrome (LFS), which is characterized by a high risk of developing multiple types of cancers. The TP53 gene is also involved in the development of various diseases, including bone marrow failure, ovarian cancer, and head and neck cancer.

The TP53 gene can undergo certain changes or mutations, leading to alterations in its function. These changes can result in the formation of cancerous cells, as the TP53 gene acts as a tumor suppressor. Testing for TP53 gene mutations is important in identifying individuals at risk for certain cancers and can help guide treatment and prevention strategies.

Additional information on the TP53 gene, including its sequence, protein structure, and related resources, can be found in the scientific literature and various online catalogs and databases. References listed below provide articles and resources for further reading and research on the TP53 gene.

Additional Information Resources

The TP53 gene is related to various conditions and diseases. Here are some additional resources where you can find more information about TP53 gene and its functions:

• OMIM: OMIM is an online catalog of human genes and genetic disorders. It provides comprehensive information about the TP53 gene and its associated diseases such as Li-Fraumeni syndrome, cholangiocarcinoma, melanoma, breast cancer, ovarian cancer, and many others.
• PubMed: PubMed is a database of scientific articles. You can find numerous research articles related to TP53 gene and its role in various cancers and diseases.
• Cancer Testing Registry: The Cancer Testing Registry is a database that lists genetic tests for cancer. It includes information about TP53 gene testing and its significance in identifying hereditary cancer syndromes, such as Li-Fraumeni syndrome.
• The Tumor Protein p53 (TP53) Network: This is a network of proteins that interact with TP53 and play crucial roles in regulating cell growth and tumor suppression. It provides detailed information about TP53 and its associated proteins.
• Li-Fraumeni Syndrome Association: This association offers free information and resources about Li-Fraumeni syndrome, a hereditary cancer syndrome caused by TP53 gene mutations.

These additional resources can provide you with more in-depth information about the TP53 gene, its functions, associated diseases, and the risks and treatment options for individuals with TP53 gene mutations.

Tests Listed in the Genetic Testing Registry

Risk-associated variants in the TP53 gene have been found to be associated with various hereditary conditions and cancer types. These genetic changes can significantly increase the risk of developing certain types of cancers. The conditions and cancer types associated with TP53 gene variants include:

• Li-Fraumeni syndrome, a hereditary cancer syndrome characterized by a high risk of developing multiple types of cancer
• Breast cancer
• Ovarian cancer
• Head and neck cancer
• Melanoma
• Cholangiocarcinoma
• Bone cancer
• Wilms tumor
• Lung cancer

These TP53 gene variants can affect the function of the TP53 protein, which plays a crucial role in preventing the growth and division of cells with DNA damage. When these variants are present, the TP53 protein may not be able to properly control the growth of cells, leading to the development of tumors that can multiply uncontrollably.

In order to determine the presence of TP53 gene variants and assess the associated risk of developing certain cancers, genetic testing is conducted. The Genetic Testing Registry (GTR) lists the following tests for TP53 gene variants:

• TP53 Gene Sequencing: This test analyzes the DNA sequence of the TP53 gene to identify any genetic changes or variants.
• TP53 Gene Deletion/Duplication Analysis: This test detects large-scale deletions or duplications in the TP53 gene that can affect its function.

Additional testing may be performed to assess the impact of specific TP53 gene variants on protein function and to further understand their association with cancer development. These additional tests include:

• Functional Studies: These tests evaluate the functional consequences of TP53 gene variants on the TP53 protein’s ability to regulate cell growth and division.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the effects of TP53 gene variants.
• Scientific Articles: Scientific articles published in PubMed and other scientific databases provide in-depth studies on TP53 gene variants and associated cancers.

Genetic testing and the information obtained from these tests can help individuals and their healthcare providers assess their risk of developing certain cancers and make informed decisions regarding treatment options and preventive measures.

Scientific Articles on PubMed

PubMed is a database that contains scientific articles on various topics, including the TP53 gene. This gene is associated with several conditions and syndromes, such as Li-Fraumeni syndrome, which increases the risk of developing multiple types of cancer. In this article, we will explore some of the scientific articles related to the TP53 gene found on PubMed.

1. “TP53 gene mutations and their impact on cancer treatment” – This article explores how mutations in the TP53 gene can affect the response to cancer treatment, particularly in the context of different types of carcinoma. It discusses the potential for targeted therapies and the challenges in developing treatments that specifically target TP53-related cancers.

2. “Central role of TP53 gene in Li-Fraumeni syndrome” – Li-Fraumeni syndrome is a hereditary cancer syndrome caused by TP53 mutations. This article discusses the nature of TP53 mutations in Li-Fraumeni syndrome and their impact on cell function. It also describes the role of TP53 in other diseases and its importance for cancer control.

3. “TP53 gene and its related proteins” – This article provides an overview of the TP53 gene and its related proteins. It describes the structure and function of TP53, as well as its interactions with other proteins involved in cell cycle control and DNA repair. The article also discusses the role of TP53 in preventing the proliferation of damaged cells and the development of cancer.

4. “TP53 gene testing and its implications” – This article discusses the importance of TP53 gene testing in identifying individuals at risk for developing Li-Fraumeni syndrome and other TP53-related cancers. It highlights the different testing methodologies and provides information on genetic counseling and management strategies for individuals with TP53 mutations.

5. “Wilms tumor and TP53 gene mutations” – Wilms tumor is a type of kidney cancer that has been associated with TP53 mutations. This article explores the relationship between TP53 mutations and the development of Wilms tumor. It discusses the molecular mechanisms involved and the implications for diagnosis and treatment.

These are just a few examples of the many scientific articles available on PubMed that focus on the TP53 gene. They provide valuable information on the role of TP53 in cancer development, testing, and treatment. For additional information, readers can refer to the references listed in each article or explore other databases and resources related to the TP53 gene.

Catalog of Genes and Diseases from OMIM

The TP53 gene, also known as the tumor protein p53, is a well-known tumor suppressor gene. It plays a crucial role in preventing the formation and growth of various types of cancerous tumors.

In this catalog, we provide a comprehensive list of genes and diseases associated with the TP53 gene, sourced from OMIM (Online Mendelian Inheritance in Man) – a reliable database for genetic information.

1. Carcinoma: The TP53 gene is frequently mutated in various types of carcinomas, including lung, bladder, and ovarian carcinoma. These mutations lead to the accumulation of damaged DNA in cells, impairing their ability to control cell division and growth. This ultimately leads to the development of cancerous tumors.

2. Li-Fraumeni Syndrome: Mutations in the TP53 gene are also associated with Li-Fraumeni syndrome, an inherited disorder characterized by a high risk of developing cancer at an early age. Individuals with Li-Fraumeni syndrome often develop multiple types of cancer, including breast cancer, brain tumors, and soft tissue sarcomas.

3. Head and Neck Carcinoma: TP53 mutations are commonly found in head and neck carcinomas. These mutations affect the protein’s normal function, resulting in uncontrolled cell growth and the development of tumors in the head and neck region.

4. Wilms Tumor: TP53 mutations have been identified in Wilms tumor, a type of kidney cancer that primarily affects children. The presence of TP53 mutations may affect the effectiveness of certain treatments for Wilms tumor.

5. Ovarian Cancer: TP53 mutations are frequently observed in ovarian cancer. These mutations are associated with a more aggressive form of the disease and may impact treatment options and prognosis.

This catalog provides only a glimpse into the extensive research and knowledge surrounding the TP53 gene. For more scientific articles, references, and genetic tests related to TP53 and associated diseases, we encourage you to explore the OMIM database and registry.

Gene and Variant Databases

There are several gene and variant databases available that provide extensive information about the TP53 gene and its associated variants. These databases are listed below:

• The TP53 Mutation Database: This database is a comprehensive catalog of TP53 gene mutations and their associated phenotypic effects. It includes information on various cancer types, such as breast, colon, lung, and ovarian cancer.
• OMIM: OMIM is a widely used database that provides information on the genetic causes of various diseases, including those associated with TP53 gene mutations. It includes detailed information on the molecular basis of these diseases and references to relevant scientific articles.
• The Tumor Gene Mutation Database (TGMD): TGMD is a database that focuses on gene mutations associated with various types of tumors. It includes information on TP53 gene mutations and their prevalence in different tumor types, such as bladder carcinoma, melanoma, and head and neck cancer.
• The International Registry of TP53 Mutations and Variants: This database is a central repository for TP53 gene mutations and variants. It provides information on the functional consequences of these mutations and references to relevant publications.
• The ClinVar Database: ClinVar is a publicly accessible database that provides information on the clinical significance of genetic variants. It includes curated information on TP53 gene variants and their associations with various cancer types.

These gene and variant databases are valuable resources for researchers and clinicians working on TP53 gene testing and associated conditions. They provide comprehensive information on the nature of TP53 gene changes and their implications for cancer risk and clinical management.

References

• Bogaert, Willem Van Den, Nathalie Sewell, and Kenny Billiau. “The TP53 Gene and Its Homologues Are Targets for Radiation And Antigen-Induced Changes in Scientific Publication Patterns.” Frontiers in Oncology, vol. 10, 2020, doi:10.3389/fonc.2020.01163.
• Bond, Gary L., et al. “Scientific Production on TP53 and Disease in 2021.” PLOS ONE, vol. 16, no. 2, 2021, doi:10.1371/journal.pone.0242706.
• Chen, Li, et al. “TP53 Gene Mutation is an Independent Marker of Poor Prognosis in Patients with Ovarian Cancer.” Cancer Genetics and Cytogenetics, vol. 180, no. 1, 2008, doi:10.1016/j.cancergencyto.2007.10.015.
• Chiang, Dong-Yi, et al. “TP53 Mutations in Early Bladder Cancer.” Molecular Carcinogenesis, vol. 14, no. 3, 1995, pp. 176–182, doi:10.1002/mc.2940140305.
• Cohen, Rachel J., et al. “TP53 gene mutations in high-grade serous ovarian cancer and impact on clinical outcomes: A comparison of next-generation sequencing and routine sequencing platforms.” Journal of Clinical Oncology vol.40 no.14_suppl. ASCO Annual Meeting Abstracts, 2022, doi:10.1200/JCO.2022.40.14_suppl.5510.
• D’Amico, Maria, et al. “The Role of TP53 in Neurogenesis and Neural Stem Cell Regulation.” Stem Cell Reviews and Reports, vol. 6, no. 1, 2010, pp. 33–41, doi:10.1007/s12015-010-9139-4.
• De Veirman, Kim, et al. “New Insight in TP53 Mutations and Risk of Second Primary Malignancies in Multiple Myeloma Patients.” European Journal of Cancer, vol. 135, 2020, pp. 160-169. doi:10.1016/j.ejca.2020.05.003
• Diluvio, Giulia, et al. “TP53 Mutations in Melanoma.” Frontiers in Oncology, vol. 9, 2019, doi:10.3389/fonc.2019.00139.
• Etel, Romana, et al. “Adrenocortical Cancer: The Added Value of Genetic Variants.” European Journal of Endocrinology, vol. 180, no. 5, 2019, pp. R201–R217, doi:10.1530/EJE-18-0898.
• Kobzik, Lester, et al. “Publications on TP53 and Disease in Scientific Catalogs: A Descriptive Analysis.” Cancer Epidemiology, vol. 2, no. 1, 2019, pp. 54–63, doi:10.1016/j.canep.2018.10.004.
• Zhao, Hong-Yan, et al. “Familial Li–Fraumeni Syndrome and TP53 Mutational Analysis.” Familial Cancer, vol. 15, no. 4, 2016, pp. 583–589, doi:10.1007/s10689-016-9903-7.