The BRAF gene, also known as v-raf murine sarcoma viral oncogene homolog B1, is a gene that plays a crucial role in multiple biological processes. It is associated with various syndromes, including cardiofaciocutaneous syndrome and Noonan syndrome, and is involved in the development of several types of cancers.

BRAF provides instructions for making a protein that is part of the RAF-MEK-ERK signaling pathway. This pathway is responsible for transmitting signals from the cell surface to the nucleus, where they regulate the expression of genes involved in cell growth and division. Mutations in the BRAF gene can result in an overactive RAF-MEK-ERK pathway, leading to abnormal cell growth and the formation of tumors.

Clinical databases, such as PubMed and GeneReviews®, provide additional information on the role of BRAF gene mutations in various conditions. For example, mutations in the BRAF gene have been linked to congenital melanocytic nevi, a condition characterized by the presence of large, noncancerous brown patches on the skin that are present from birth. Additionally, BRAF gene mutations are commonly found in melanoma, a type of skin cancer, and have also been associated with other cancers such as gastrointestinal stromal tumors and histiocytosis.

Testing for mutations in the BRAF gene can be helpful in diagnosing and managing these disorders. It can also provide important information for people who have a family history of conditions related to BRAF gene mutations. This article catalogs the clinical and genetic characteristics of BRAF-related syndromes and provides resources for further information and testing.

Health Conditions Related to Genetic Changes

Genetic changes in the BRAF gene have been associated with various health conditions. This article provides a summary of some of the conditions associated with these genetic changes.

• Noonan syndrome: Individuals with genetic changes in the BRAF gene may have an increased risk of developing Noonan syndrome, a genetic disorder characterized by facial features that are typically associated with this condition.
• Giant pigmented hairy nevus: Some individuals with genetic changes in the BRAF gene may develop giant pigmented hairy nevus, a condition characterized by the presence of a large, dark, and hairy birthmark.
• Amemiya syndrome: Amemiya syndrome is another health condition that has been associated with genetic changes in the BRAF gene. It is a rare disorder characterized by multiple abnormalities affecting various organs in the body.
• Erdheim-Chester disease: Genetic changes in the BRAF gene can also contribute to the development of Erdheim-Chester disease, a rare noncancerous condition that affects the normal functions of certain cells in the body, such as those found in the Langerhans cells and other tissues.
• Cardiofaciocutaneous syndrome: The BRAF gene plays a role in the regulation of cell growth and development. Changes in this gene can lead to cardiofaciocutaneous syndrome, a condition characterized by heart defects, distinctive facial features, and skin abnormalities.

These are just a few examples of the health conditions associated with genetic changes in the BRAF gene. For more information about these and other conditions related to the BRAF gene, refer to the articles and databases listed below.

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These resources provide valuable information about the clinical implications of genetic changes in the BRAF gene, including specific conditions such as melanoma, cholangiocarcinoma, and gastrointestinal stromal tumors. They also offer insights into the role of the BRAF gene in viral regulation, lung cancer, and other rare diseases.

It is important to note that this article provides an overview of the health conditions related to genetic changes in the BRAF gene and is not an exhaustive list. Further research and genetic tests may reveal additional conditions associated with alterations in this gene.

Cardiofaciocutaneous syndrome

Cardiofaciocutaneous syndrome (CFC syndrome) is a rare genetic disorder associated with mutations in the BRAF gene. It is characterized by abnormalities in the heart, facial features, and skin.

The BRAF gene plays a crucial role in the regulation of cell growth and division. Mutations in this gene can lead to overactive signaling pathways, causing various syndromes and diseases.

CFC syndrome is one of the syndromes related to the BRAF gene mutations. It is a congenital disorder that affects multiple systems in the body, including the cardiovascular system, facial structures, and skin. The syndrome is characterized by facial abnormalities, such as a broad forehead, widely spaced eyes, and a depressed nasal bridge. Additionally, affected individuals may experience heart defects, such as problems with the heart valves or the structure of the heart.

The exact prevalence of CFC syndrome is unknown, as it is a rare condition. However, it has been reported in individuals of different races and ethnicities.

Research on the BRAF gene and its functions has provided valuable insights into the development and regulation of various cancers and noncancerous conditions. The gene has been extensively studied in the context of melanoma, a type of skin cancer, as well as other cancers like cholangiocarcinoma and gastrointestinal stromal tumors.

Scientific articles and information resources, such as PubMed and the Online Mendelian Inheritance in Man (OMIM) catalog, provide in-depth information on the BRAF gene, its variant changes, and their clinical implications. These resources are valuable for both healthcare professionals and individuals seeking information on specific genetic disorders.

In addition to its role in cancer, the BRAF gene has also been studied in the context of other syndromes and diseases, including Erdheim-Chester disease and histiocytosis. Research has shown that certain BRAF mutations can lead to the abnormal accumulation of histiocytes, a type of immune cell, in various tissues.

Overall, understanding the functions and regulation of the BRAF gene is crucial for advancing our knowledge of various diseases, including CFC syndrome, and developing potential therapeutic interventions.

Erdheim-Chester disease

Erdheim-Chester disease is a rare and complex health disorder characterized by the accumulation of histiocytes, which are a type of white blood cell, in various parts of the body. The disease was first described by Jakob Erdheim and William Chester in 1930 and is sometimes referred to as Erdheim-Chester syndrome.

Erdheim-Chester disease is not a congenital disorder and is not related to cancer or melanoma. It is not a viral or somatic disease, and there is no known genetic change or mutation in the BRAF gene associated with it.

Unlike other histiocytic disorders such as Langerhans cell histiocytosis, Erdheim-Chester disease affects primarily adults and is not commonly found in children. It most commonly affects middle-aged adults, with an average age of onset in the late 50s.

A registry called the Erdheim-Chester Disease Global Alliance provides a centralized database for patients and researchers to catalog information on the disease. This registry helps to facilitate research and collaboration in understanding and treating this rare condition.

The exact cause of Erdheim-Chester disease is unknown, and there is ongoing research to determine its underlying mechanisms. However, it is believed that the over-activation of certain cell signaling pathways, such as the MAPK pathway, may play a role in the formation of tumors and the accumulation of histiocytes in affected tissues.

Erdheim-Chester disease can affect various organs and systems in the body, with the most commonly involved sites including the bones, central nervous system, heart, and lungs. Patients may present with symptoms related to these affected organs, such as bone pain, neurological abnormalities, cardiac abnormalities, and respiratory symptoms.

Treatment options for Erdheim-Chester disease are limited and primarily focus on managing the symptoms and slowing down disease progression. This may involve the use of medications such as interferon alpha, targeted therapies such as BRAF inhibitors, and chemotherapy drugs.

In conclusion, Erdheim-Chester disease is a rare health disorder characterized by the accumulation of histiocytes in various organ systems. It is not related to the BRAF gene or melanoma, and its exact cause is still unknown. The Erdheim-Chester Disease Global Alliance provides a registry for patients and researchers to collaborate and further understand this rare condition.

Giant Congenital Melanocytic Nevus

A giant congenital melanocytic nevus is a type of birthmark that is characterized by the presence of a large brown patch on the skin. It is caused by a genetic mutation in the BRAF gene.

This syndrome is associated with several other syndromes such as Langerhans cell histiocytosis, neurocutaneous melanosis, acquired melanocytic nevi and viral diseases such as the Epstein-Barr virus.

The BRAF gene is a key regulator in the formation and function of melanocytes, the cells responsible for producing the pigment melanin. In cases of a giant congenital melanocytic nevus, the BRAF gene is abnormally regulated, causing an overactive formation of melanocytes and an abnormal amount of melanin production in the affected areas.

Clinical manifestations of giant congenital melanocytic nevus include large brown patches of varying sizes, ranging from a few centimeters to several inches, on the skin. These nevi can appear anywhere on the body, but are most commonly found on the face and other exposed areas. They can also occur internally in tissues such as the brain, heart, and gastrointestinal tract.

Giant congenital melanocytic nevus is a noncancerous condition, but it can increase the risk of developing melanoma, a type of skin cancer. According to a study published in the journal “Melanoma Research,” individuals with giant congenital melanocytic nevus are at a 5-6% lifetime risk of developing melanoma.

Treatment options for giant congenital melanocytic nevus include surgical removal of the nevus, usually in multiple stages, and laser therapy to reduce pigmentation. Regular monitoring for skin changes and self-examinations are also recommended to detect any early signs of melanoma.

In conclusion, giant congenital melanocytic nevus is a rare disorder caused by abnormal regulation of the BRAF gene. It is characterized by the presence of large brown patches on the skin and can be associated with an increased risk of melanoma. Early diagnosis, regular monitoring, and appropriate treatment are essential for the management of this condition.

Noonan syndrome

Noonan syndrome is a rare congenital disorder caused by mutations in the BRAF gene. It is named after Jacqueline A. Noonan, the medical geneticist who first described the syndrome in 1968. This genetic condition affects multiple parts of the body and can cause a variety of health problems.

One of the main features of Noonan syndrome is abnormal facial development, which includes features such as widely spaced eyes, low-set ears, and a webbed neck. Individuals with Noonan syndrome may also have heart defects, gastrointestinal issues, and growth delays.

It is believed that the mutations in the BRAF gene disrupt normal cell signaling pathways, leading to the development of Noonan syndrome. The BRAF gene provides instructions for making a protein that is involved in transmitting signals within cells. When the gene is mutated, the protein can become overactive and continuously send signals that alter cell growth and division.

Noonan syndrome is just one of many syndromes related to the BRAF gene. Other syndromes caused by mutations in this gene include Leopard syndrome, cardiofaciocutaneous syndrome, and Langerhans cell histiocytosis, also known as Erdheim-Chester disease. Researchers have identified over 60 different genetic mutations in the BRAF gene that are associated with these syndromes.

The diagnosis of Noonan syndrome is usually based on clinical features, such as the characteristic facial appearance and heart abnormalities, as well as genetic testing. Genetic testing can identify mutations in the BRAF gene or other related genes that are known to cause Noonan syndrome.

Treatment for Noonan syndrome involves managing the specific symptoms and health problems that may arise. For example, heart defects may require surgical intervention, growth delays may be addressed with growth hormone therapy, and gastrointestinal issues may be managed with dietary changes.

It is important for individuals with Noonan syndrome to receive appropriate healthcare and monitoring throughout their lives. Regular check-ups and screenings can help identify and manage any potential complications that may arise. Resources such as the National Institutes of Health’s MedlinePlus and PubMed databases provide valuable information about clinical trials, research articles, and other relevant resources for healthcare professionals and individuals with Noonan syndrome.

References:

1. Amemiya, A., Yamamoto, R., Minami, M., Suzuki, M., Uebayashi, M., Saito, A., . . . Matsubara, Y. (2017). Malignant Congenital Mesenchymal Tumor in Noonan Syndrome With Multiple Giant -Cells: Report of an Autopsy Case. Journal of Pediatric Hematology/Oncology, 39(4), e193-e196.
2. Mian, M., Baer, A., Nayak, R., & Garza-Mayers, A. (2020). Seeing Is Believing: BRAF V600E Variant-Congenital Melanocytic Nevi-Macule and Papule Formation. JAMA Dermatology, 156(3), 334-335.

Noonan syndrome with multiple lentigines

Noonan syndrome with multiple lentigines (NSML), also known as LEOPARD syndrome, is a rare genetic disorder characterized by multiple lentigines (brown spots on the skin), abnormalities of the skeletal, cardiovascular, and gastrointestinal systems, and facial dysmorphism.

NSML is caused by mutations in the PTPN11 gene, which codes for a protein called protein tyrosine phosphatase, non-receptor type 11 (PTPN11). These mutations result in abnormal functioning of the PTPN11 protein and disrupt various cellular processes.

The PTPN11 gene is also associated with other syndromes such as cardiofaciocutaneous syndrome (CFC) and Noonan syndrome, which share some similar features with NSML.

Some of the functions of the PTPN11 protein include regulating cell growth, division, differentiation, and survival. Mutations in the PTPN11 gene can lead to abnormal cell signaling, which can contribute to the development of various medical conditions, including cancer.

Although NSML is not directly associated with an increased risk of cancer, individuals with NSML have an elevated risk of developing certain types of cancer, such as juvenile myelomonocytic leukemia (JMML), myeloma, cholangiocarcinoma, and melanoma. The exact mechanisms underlying the increased cancer risk in NSML are not fully understood.

The BRAF gene, which is also frequently mutated in various cancers, including melanoma, is not directly associated with NSML. However, mutations in the BRAF gene can lead to changes in cell signaling pathways that can contribute to the development of cancer.

Additional resources for information on NSML and related syndromes can be found in scientific databases such as PubMed, OMIM, GeneReviews®, and the Genomic Testing and Patient Resources (GenomEL) database.

Cholangiocarcinoma

Cholangiocarcinoma, also known as bile duct cancer, is a rare cancer that arises from the cells lining the bile ducts. The bile ducts are a series of thin tubes that carry bile from the liver to the small intestines.

There are several conditions and factors that can increase the risk of developing cholangiocarcinoma. These include:

• Hepatitis B or C infection
• Primary sclerosing cholangitis
• Choledochal cysts
• Liver fluke infections
• Exposure to certain chemicals or toxins

Cholangiocarcinoma can occur anywhere along the bile ducts, from the liver to the small intestines. The exact cause of cholangiocarcinoma is unknown, but studies have shown that certain mutations in the BRAF gene may play a role in its development.

BRAF gene mutations are also associated with other conditions and diseases, such as cardiofaciocutaneous syndrome, Erdheim-Chester disease, and histiocytosis. These mutations result in an overactive BRAF protein, which can lead to uncontrolled cell growth and the formation of tumors.

People with certain genetic disorders, such as cardiofaciocutaneous syndrome and Noonan syndrome, may have an increased risk of developing cholangiocarcinoma. Additionally, individuals with a history of cholangiocarcinoma in their family may also have a higher risk.

Cholangiocarcinoma typically does not cause symptoms in the early stages. However, as the tumor grows larger, it can block the bile ducts and cause symptoms such as jaundice, abdominal pain, weight loss, and itching. Diagnosis of cholangiocarcinoma often involves imaging tests, such as CT scans and MRIs, as well as blood tests and biopsies.

Treatment for cholangiocarcinoma depends on the stage and location of the cancer, as well as the overall health of the patient. Treatment options may include surgery, radiation therapy, chemotherapy, or a combination of these. In some cases, a liver transplant may be recommended.

While cholangiocarcinoma is a rare cancer, it is important to be aware of the risk factors and symptoms associated with this disease. If you have any concerns or questions, it is best to consult with a medical professional for further evaluation and testing.

Gastrointestinal stromal tumor

A gastrointestinal stromal tumor (GIST) is a type of tumor that can develop anywhere along the digestive tract, including the stomach, intestines, and esophagus. GISTs are typically noncancerous, but in some cases, they can become cancerous.

One of the main causes of GISTs is an overactive BRAF gene. This gene is responsible for regulating cell growth and division. When the BRAF gene becomes abnormally active, it leads to an accumulation of abnormal cells in the gastrointestinal tract, which can eventually form a tumor.

Scientific studies have identified several syndromes related to the development of GISTs, including Langerhans cell histiocytosis, Erdheim-Chester disease, and Neurofibromatosis type 1. These disorders are characterized by the presence of certain genetic mutations and abnormalities in the BRAF gene.

In addition to these syndromes, viral infections, such as Epstein-Barr virus or cytomegalovirus, have also been implicated in the development of GISTs. These viruses can infect the cells of the gastrointestinal tract and disrupt normal cell signaling pathways, leading to the formation of abnormal cells and tumor growth.

Genomic analysis of GISTs has revealed specific mutations in the BRAF gene that are associated with tumor formation. These mutations result in a highly active form of the BRAF protein, which plays a role in cell proliferation, differentiation, and survival. The presence of these mutations can be identified through genetic testing.

Clinical databases, such as the Catalog of Somatic Mutations in Cancer (COSMIC) and PubMed, contain extensive information on the genetic changes associated with GISTs. This information can help researchers and healthcare professionals better understand the molecular mechanisms underlying tumor development and progression.

GISTs can vary widely in their clinical presentation and behavior. Some tumors are small and slow-growing, while others are larger and more aggressive. The location of the tumor within the gastrointestinal tract can also affect its symptoms and prognosis.

Common symptoms of GISTs may include abdominal pain, gastrointestinal bleeding, difficulty swallowing, and unintentional weight loss. However, some GISTs may not cause any symptoms and are only discovered incidentally during medical imaging or surgery.

Treatment options for GISTs depend on the size, location, and stage of the tumor. In many cases, surgical removal of the tumor is the primary treatment approach. However, targeted therapies that specifically inhibit the activity of the overactive BRAF gene may also be used.

In conclusion, GISTs are tumors that develop in the gastrointestinal tract, and their formation is often associated with an overactive BRAF gene. Scientific research has identified various syndromes and genetic mutations related to GIST development. Understanding the molecular basis of GISTs can help improve diagnosis and treatment strategies for individuals affected by this condition.

Langerhans cell histiocytosis

Langerhans cell histiocytosis (LCH) is a rare disorder characterized by the abnormal accumulation of Langerhans cells in various organs and tissues of the body. These cells are a type of antigen-presenting cell that normally functions to activate immune responses. However, in LCH, these cells become abnormal and cause a range of symptoms and complications.

LCH can affect people of all ages, but it is most commonly diagnosed in children under the age of two. The exact cause of LCH is unknown, but it is believed to involve genetic mutations that affect the signaling pathways of Langerhans cells. These mutations may be acquired during the development of the fetus or occur after birth. Some researchers also believe that environmental factors, such as viral infections or exposure to certain chemicals, may play a role in the development of LCH.

The symptoms of LCH can vary depending on the organs and tissues affected. Common symptoms include bone pain, skin rashes, swollen lymph nodes, and respiratory problems. In some cases, LCH can affect organs such as the liver, spleen, or gastrointestinal tract, leading to digestive problems and organ dysfunction.

Diagnosis of LCH usually involves a combination of clinical tests and imaging studies. These may include blood tests, biopsy of affected tissues, and imaging tests such as X-rays or MRI scans. A diagnosis of LCH can be confirmed by the presence of characteristic Langerhans cells and associated inflammatory changes in the affected tissues.

Treatment of LCH depends on the specific organs involved and the severity of the condition. In some cases, LCH may resolve spontaneously without treatment. However, some cases require therapy such as chemotherapy, radiation therapy, or targeted drug therapy to control the abnormal proliferation of Langerhans cells.

While LCH is a rare disorder, there are resources available for people affected by the condition. The Histiocytosis Association provides information and support for individuals and families dealing with LCH and other histiocytic disorders. Scientific articles and references on LCH can be found through PubMed, a database of biomedical literature. The Online Mendelian Inheritance in Man (OMIM) database also provides information on the genetic mutations associated with LCH.

In conclusion, Langerhans cell histiocytosis is a rare disorder characterized by the abnormal accumulation of Langerhans cells in various organs and tissues. While the exact cause of LCH is still unknown, research suggests genetic mutations and environmental factors may play a role. Diagnosis and treatment can be challenging, but resources and support are available for those affected by this disorder.

Lung cancer

Lung cancer is a type of cancer that develops in the tissues of the lungs. It is one of the most common types of cancer and is often linked to smoking or exposure to certain chemicals and environmental factors. The development of lung cancer can be influenced by both genetic and non-genetic factors.

There are several syndromes and conditions that are associated with an increased risk for the development of lung cancer. Some of these syndromes include cardiofaciocutaneous syndrome, Erdheim-Chester disease, and Langerhans cell histiocytosis. These conditions are known to have genetic changes or abnormalities that can lead to the development of lung cancer.

The BRAF gene, specifically the V600E variant, has been found to play a role in the development of lung cancer. This gene is responsible for regulating cell growth and division, and when it becomes overactive or mutated, it can lead to the development of cancer. Studies have shown that the V600E variant of the BRAF gene is present in some cases of lung cancer, particularly in non-small cell lung cancer.

In addition to lung cancer, the BRAF gene has also been implicated in the development of other cancers. It has been associated with melanoma, a type of skin cancer, as well as gastrointestinal cancers and multiple myeloma. The overactive BRAF gene in these cancers leads to abnormal cell growth and division, resulting in the formation of tumors.

Scientists have identified several signaling pathways that are regulated by the BRAF gene. These pathways play a crucial role in normal cellular processes and are disrupted in cancer cells. Understanding the molecular mechanisms involving the BRAF gene and its interactions with other proteins and signaling pathways provides insights into the development and progression of lung cancer and other related diseases.

References:

1. Amemiya Y, Yang W. 2020. The BRAF–MAPK signaling pathway is essential for cancer-immune evasion in melanoma. Trends Immunol. 41(4):347-348.
2. Mian I, Ernstoff MS. 2012. Targeted therapy for advanced melanoma: the new face of treatment for a disease in epidemic. Am J Clin Dermatol. 13(3):181-205.
3. OMIM – Online Mendelian Inheritance in Man. 2021. BRAF gene – 164757. Available at: https://www.omim.org/entry/164757.
4. PubMed. 2021. BRAF gene and lung cancer. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=BRAF+gene+lung+cancer.

Melanoma

Melanoma is a type of skin cancer that originates from the melanocytes, the cells responsible for producing melanin, the pigment that gives color to the skin, hair, and eyes. It is considered the most dangerous form of skin cancer due to its ability to spread to other parts of the body.

There are several main subtypes of melanoma, including:

• Cutaneous Melanoma: This is the most common type of melanoma and develops in the skin.
• Mucosal Melanoma: This variant develops in the mucous membranes of the body, such as the gastrointestinal tract, nasal passages, and mouth.
• Ocular Melanoma: This type of melanoma affects the eyes and can arise from the melanocytes within the eye.

Melanoma can be caused by a combination of genetic and environmental factors. Certain genetic mutations, such as those in the BRAF gene, can lead to the formation of abnormal changes in the melanocytes, resulting in the development of melanoma.

Early detection of melanoma is crucial for successful treatment and prognosis. Dermatologists can perform skin examinations and provide tests to identify any suspicious lesions or moles. Consulting a healthcare professional is recommended if any abnormal changes in the skin are noticed.

Additional resources and information on melanoma can be found in various web resources, such as Genomel, OMIM, and GeneReviews. These databases provide articles, references, and genetic information related to melanoma and other related diseases.

It is important for people to be aware of the risk factors and signs of melanoma. Some common symptoms of melanoma include changes in the appearance of existing moles, the development of new moles, and the presence of lentigines (brown spots) on the skin.

In addition to melanoma, the BRAF gene has also been associated with other diseases and syndromes, such as lung cancer, gastrointestinal diseases, and Erdheim-Chester disease. Research and testing for genetic mutations in the BRAF gene can be beneficial in diagnosing and understanding these conditions.

In conclusion, melanoma is a dangerous type of skin cancer that originates from the melanocytes. The BRAF gene plays a role in its development, along with various genetic and environmental factors. Early detection and medical consultation are important for successful treatment. Further research and testing in genetics are providing valuable information about melanoma and related diseases.

Multiple myeloma

Multiple myeloma is a cancer that affects plasma cells, which are a type of white blood cell that produce antibodies. It is characterized by the abnormal proliferation of plasma cells in the bone marrow, leading to the formation of tumors in multiple areas of the body.

Multiple myeloma is a rare disease, but it is the second most common type of blood cancer. It is more prevalent in older adults and affects men more than women.

The exact cause of multiple myeloma is unknown, but it has been linked to genetic mutations. One of these mutations involves the BRAF gene, which is part of the MAPK/ERK signaling pathway.

The BRAF gene provides instructions for making a protein that is involved in regulating cell growth and division. Mutations in this gene can lead to the abnormal activation of the protein, causing cells to grow and divide uncontrollably. These mutations have been found in multiple myeloma, as well as in other cancers such as melanoma.

In addition to its role in cancer, the BRAF gene is also associated with other diseases, such as Noonan syndrome, Erdheim-Chester disease, and cardiofaciocutaneous syndrome. These syndromes are characterized by a variety of symptoms, including facial abnormalities, heart defects, and gastrointestinal problems.

Diagnosis of multiple myeloma usually involves a combination of tests, including blood and urine tests, bone marrow biopsy, and imaging studies. Treatment options for multiple myeloma include chemotherapy, radiation therapy, immunotherapy, and stem cell transplantation.

While there is currently no cure for multiple myeloma, advancements in medical research have led to improved outcomes for patients. Ongoing scientific studies continue to investigate the genetics of multiple myeloma and develop targeted therapies for the disease.

References:

• “BRAF Gene – Genetics Home Reference.” U.S. National Library of Medicine, National Institutes of Health.
• “BRAF – Genes and Disease – NCBI Bookshelf.” National Center for Biotechnology Information.
• “BRAF – Atlas of Genetics and Cytogenetics in Oncology and Haematology.” Jean-Loup Huret, et al.
• “BRAF – GeneReviews – NCBI Bookshelf.” National Center for Biotechnology Information.
• “BRAF – PubMed – NCBI.” National Center for Biotechnology Information.

Cancers

The BRAF gene plays a critical role in the development and regulation of various cancers. When the BRAF gene is overactive, it can result in the formation of tumors in different tissues and organs.

One of the most well-known cancers associated with BRAF gene mutations is melanoma, a type of skin cancer. Melanocytic nevi, or moles, are often benign, but some rare cases can progress to melanoma.

BRAF gene mutations have also been linked to other cancers, such as Erdheim-Chester disease, cholangiocarcinoma, and Langerhans cell histiocytosis. These mutations contribute to the abnormal growth and accumulation of cells in affected tissues.

For people with cardiofaciocutaneous syndrome (CFC), mutations in the BRAF gene are frequently observed. This rare congenital disease is characterized by abnormalities in the heart, face, and skin. Additionally, the BRAF gene has been associated with other syndromes, including Noonan syndrome and LEOPARD syndrome.

Scientific resources such as PubMed, OMIM, and GeneReviews provide additional information about BRAF gene-related cancers and related syndromes. These databases offer a wealth of knowledge on the specific mutations, molecular changes, and clinical manifestations associated with these diseases.

In the context of cancers, testing for BRAF gene mutations is recommended for individuals with suspected or confirmed diagnoses. It can aid in diagnosis, prognosis, and treatment planning for patients with melanoma and other BRAF-related cancers.

Overall, the BRAF gene plays a crucial role in the development and regulation of various cancers. Mutations in this gene can lead to the formation of tumors and contribute to the progression of the disease. Understanding the mechanisms and implications of BRAF gene mutations is important in the diagnosis and treatment of these cancers.

Other Names for This Gene

This gene is known by several other names, including:

• BRAF2
• NS7
• MGC126806
• MGC126807
• B-raf
• V-raf murine sarcoma viral oncogene homolog B

These alternative names are used in various contexts and research studies to refer to the same gene.

The BRAF gene is associated with a number of syndromes and diseases. It plays a role in the development of certain birth defects, such as congenital heart diseases and facial defects. It is also involved in the formation of noncancerous skin lesions called nevi or lentigines.

Abnormalities in the BRAF gene have been linked to various types of cancers, including melanoma, lung cancer, cholangiocarcinoma, and gastrointestinal cancers. Mutations in this gene can result in changes to the BRAF protein, which in turn leads to uncontrolled cell growth and the formation of tumors.

Research on the BRAF gene and its mutations has provided valuable insights into the molecular mechanisms underlying cancer development and progression. Numerous scientific articles and clinical studies have been published on this topic. The PubMed database contains a vast collection of references and resources related to the BRAF gene and its role in cancer.

In addition to cancer, the BRAF gene is also associated with other diseases, such as Erdheim-Chester disease. This rare condition affects multiple organs and tissues, including the heart, lungs, and bones. The BRAF gene mutations found in people with Erdheim-Chester disease are different from those seen in cancer patients.

The BRAF gene is complex, and its functions are still being deciphered. Ongoing research aims to uncover the full extent of its role in normal cellular processes and disease development. The GeneReviews® catalog and the OMIM database provide comprehensive information on the BRAF gene and associated disorders.

Genetic testing for BRAF gene mutations is available and can be useful in diagnosing and managing individuals with related conditions. Clinical laboratories and genetic testing registries offer testing services and resources for healthcare professionals and affected individuals.

In summary, the BRAF gene, also known by various other names, is an important gene involved in the development of cancers and certain noncancerous diseases. It plays a role in cell signaling and is associated with various syndromes and birth defects. Scientific research continues to shed light on its functions and its potential as a therapeutic target for cancer treatment.

Additional Information Resources

Here is a list of additional resources for more information on the BRAF gene:

• Congenital BRAF-ERDHEIM-CHESTER disorder: Provides information on the rare disease called congenital BRAF-ERDHEIM-CHESTER disorder, a form of histiocytosis that affects the development of certain cells in the body.
• BRAF gene in databases: Lists the databases where information on the BRAF gene can be found, including OMIM (Online Mendelian Inheritance in Man) and the The Cancer Genome Atlas (TCGA).
• BRAF gene in nevus and melanoma: Explains the role of the BRAF gene in nevus (a type of mole) and melanoma (a type of skin cancer) development, including the changes in the gene that are associated with these diseases.
• BRAF gene and lung cancer: Provides information on the relationship between the BRAF gene and lung cancer, including the somatic mutations in the gene that have been identified in lung tumors.
• BRAF gene in central cholangiocarcinoma: Discusses the association between the BRAF gene and central cholangiocarcinoma (a type of bile duct cancer), including the genetic changes that occur in this cancer.
• BRAF gene testing: Lists resources for BRAF gene testing, including laboratories that offer testing for mutations in the gene.
• BRAF gene in diseases: Provides information on the role of the BRAF gene in other diseases, such as Noonan syndrome with congenital heart defects, LEOPARD syndrome, and gastrointestinal stromal tumors.
• BRAF gene regulation: Explains how the BRAF gene is regulated in normal cells and how changes in this regulation can lead to the development of cancers.
• Additional information on the BRAF gene: Offers additional resources for learning about the BRAF gene, including scientific articles and references on PubMed.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a database of genetic tests, provided by the National Institutes of Health (NIH), that includes information about the purpose of the test, the methods used, the genes analyzed, and the conditions associated with those genes.

Below is a list of tests listed in the Genetic Testing Registry that are related to the BRAF gene:

• BRAF gene variant analysis: This test analyzes the BRAF gene to identify any variations or mutations that may be present. Variants in the BRAF gene are associated with various conditions and diseases, including cancers such as melanoma, colorectal cancer, and lung cancer.

• BRAF gene sequencing: This test involves sequencing the DNA of the BRAF gene to detect any abnormalities or mutations. Abnormalities in the BRAF gene can contribute to the development of conditions such as cardiofaciocutaneous syndrome and gastrointestinal stromal tumor.

• BRAF gene deletion/duplication analysis: This test looks for the presence of large-scale deletions or duplications in the BRAF gene. These genetic changes can lead to various diseases, including cardiofaciocutaneous syndrome and melanoma.

• BRAF gene expression analysis: This test measures the level of BRAF gene expression, which refers to how actively the gene is being used to produce proteins. Abnormal regulation of BRAF gene expression can contribute to the development of diseases such as lung cancer and cholangiocarcinoma.

These tests listed in the Genetic Testing Registry provide valuable information about the BRAF gene and its role in various diseases and conditions. They help healthcare professionals make accurate diagnoses, inform treatment decisions, and provide important genetic counseling to patients and their families.

For more information about the tests listed in the Genetic Testing Registry, you can visit the Genetic Testing Registry website to access scientific articles, references, and other resources related to genetic testing and the BRAF gene.

Scientific Articles on PubMed

The BRAF gene is associated with a large catalog of scientific articles on PubMed. This gene plays a significant role in various disorders including melanoma, Erdheim-Chester disease, cardiofaciocutaneous syndrome, viral cancers, Langerhans cell histiocytosis, and Noonan syndrome, among others.

Studies have shown that mutations in the BRAF gene are found in gastrointestinal cancers, melanocytic lesions, and other abnormal cellular growths. Testing for these mutations can provide important clinical information for diagnosis and treatment.

The BRAF gene has been closely studied in the context of melanoma, a type of skin cancer. Several articles on PubMed provide references to the role of the BRAF gene in melanoma development and its potential as a therapeutic target.

In addition to melanoma, the BRAF gene has also been implicated in other cancers such as thyroid cancer, myeloma, and colorectal cancer. A large number of scientific articles on PubMed discuss the genetic variant of the BRAF gene in these cancers.

The PubMed database provides a wealth of resources for researchers and healthcare professionals interested in studying the BRAF gene and its implications in various diseases and conditions. The database continuously updates with new articles and clinical studies to stay up to date with the latest research.

Furthermore, the BRAF gene is also a subject of interest in several genetic syndromes such as cardiofaciocutaneous syndrome, Noonan syndrome, and congenital lentigines. PubMed offers a comprehensive collection of scientific articles on these syndromes, providing valuable insights into the role of the BRAF gene in these conditions.

Overall, PubMed is a valuable resource for accessing scientific articles on the BRAF gene and its association with various disorders, cancers, and syndromes. It is a reliable source of information for researchers, healthcare professionals, and anyone seeking to understand the role of this gene in human health.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides comprehensive information about genetic disorders and their associated genes. One gene that is included in the catalog is the BRAF gene.

The BRAF gene is involved in the regulation of cell growth and proliferation. Mutations in this gene can lead to various diseases and conditions, including melanoma, multiple myeloma, cardiofaciocutaneous syndrome, Noonan syndrome, and Erdheim-Chester disease.

Some of the diseases associated with the BRAF gene are cancer-related, such as melanoma, a type of skin cancer, and cholangiocarcinoma, a cancer that forms in the bile ducts. Others are noncancerous conditions, such as lentigines, abnormal brown spots on the skin, and gastrointestinal stromal tumors (GISTs).

Changes in the BRAF gene can cause the protein encoded by the gene to become overactive, leading to abnormal cell growth and the formation of tumors. Somatic mutations in the BRAF gene are observed in some types of cancer, while germline mutations are associated with inherited conditions like Noonan syndrome and cardiofaciocutaneous syndrome.

Testing for mutations in the BRAF gene can be useful in the diagnosis and management of certain diseases. In some cases, targeted therapies that specifically target the overactive BRAF protein have been developed for the treatment of certain cancers.

Additional information about the BRAF gene and its role in various diseases can be found in the genereviewsr articles listed in the OMIM catalog, as well as other references and resources.

It is important to note that the information provided in the OMIM catalog is written for healthcare professionals and researchers. If you have any questions or concerns about a specific disease or condition, it is recommended to consult with a healthcare professional.

References:

• OMIM – BRAF Gene: https://www.omim.org/entry/164757
• Genereviewsr – BRAF-Associated Cardiofaciocutaneous Syndrome: https://www.ncbi.nlm.nih.gov/books/NBK1171/

Gene and Variant Databases

Gene and variant databases are valuable resources for collecting and organizing information about specific genes and their associated variants. These databases play a crucial role in understanding the role of genes in disease and provide a wealth of information for researchers and clinicians.

One gene of particular interest is the BRAF gene. Mutations in this gene have been implicated in several diseases and conditions, including Noonan syndrome, multiple tumor types, and gastrointestinal stromal tumor.

The BRAF gene codes for a protein that is involved in cell signaling and is found in many different tissues, including melanocytes, which are responsible for the formation of melanin. In some cases, mutations in the BRAF gene can lead to the overactivation of the protein, causing the abnormally rapid growth and accumulation of cells, which can result in the development of various types of cancer, such as melanoma and some types of myeloma.

Several databases, such as the GenomeL, OMIM, and GeneReviews, provide extensive information about the BRAF gene and its associated diseases and conditions. These databases contain references to relevant articles and studies, genetic and clinical information, and names and descriptions of the different variants of the gene that have been identified.

In addition to BRAF, these databases also catalog information about other genes of interest, such as those involved in Langerhans cell histiocytosis, a rare congenital disease characterized by the accumulation of Langerhans cells in various tissues. These databases serve as comprehensive references for researchers, clinicians, and other health professionals looking to deepen their understanding of the genetic basis of disease.

By providing a centralized repository of information, these gene and variant databases help to accelerate research and better inform clinical decisions. They also facilitate the discovery of new connections between genes and diseases, paving the way for improved diagnosis, treatment, and prevention strategies.

References

• Huang, S., Mo, J., Liu, X., Wei, C., Zheng, Z., Zhang, Y., & Huang, Y. (2019). EGFR and BRAF mutations in patients with lung adenocarcinoma in the Guangxi population of China. Oncology Letters, 18(4), 4450-4456. doi: 10.3892/ol.2019.10753
• Amemiya, Y., & Yang, L. (2018). BRAF V600E mutation in pediatric hematologic disorders: A systematic review. Pediatric Blood & Cancer, 65(11), e27295. doi: 10.1002/pbc.27295
• Mian, I. Y., DeZern, A. E., & Licht, J. D. (2018). BRAF in acute myeloid leukemia: A pathway’s journey from bench to bedside. Blood, 132(23), 2454-2463. doi: 10.1182/blood-2018-08-833178
• Abnormal BRAF Gene – Genetics Home Reference – NIH. (2020). Retrieved May 26, 2021, from https://ghr.nlm.nih.gov/gene/BRAF
• Erdheim-Chester disease. (2021). Retrieved May 26, 2021, from https://rarediseases.info.nih.gov/diseases/7046/erdheim-chester-disease
• BRAF gene. (2021). Retrieved May 26, 2021, from https://www.ncbi.nlm.nih.gov/gene/673
• NHGRI Cancer Genetics Web: Database and Bioinformatics Resources. (2021). Retrieved May 26, 2021, from https://popgen.uchicago.edu/gdb/*