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The NRAS gene, also known as neuroblastoma RAS viral oncogene homolog, is a key factor in the development and progression of various cancers, including neuroblastoma, melanoma, and lung cancer. This gene encodes a small GTPase protein that plays a crucial role in regulating cell growth and division.

Changes in the NRAS gene have been linked to an increased risk of developing certain diseases, such as lymphoproliferative disorders and autoimmune diseases. Mutations in this gene have also been associated with Noonan syndrome, a genetic disorder characterized by abnormal growth, heart defects, and other developmental abnormalities.

Scientists have identified several variants of the NRAS gene that can cause different types of cancer. For example, somatic mutations in this gene are commonly found in melanoma and cholangiocarcinoma, a type of bile duct cancer. These genetic changes lead to the uncontrolled growth of cells and the formation of tumors.

The NRAS gene is listed in various online databases, such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Cancer Genome Atlas catalog. These resources provide valuable information about the function of the gene, its role in different diseases, and potential treatment options.

Testing for mutations in the NRAS gene can be done through genetic tests, which analyze the DNA of an individual to check for specific changes in the gene. These tests can help diagnose certain diseases and provide additional information for personalized treatment plans.

Research on the NRAS gene and its related proteins is constantly evolving, with new scientific articles and studies being published regularly. Understanding the role of this gene in various diseases can contribute to the development of targeted therapies and improved patient care.

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References:

Gelb, B.D. (2011). Noonan syndrome and related disorders: genetics and pathogenesis. Annual review of genomics and human genetics, 12, 389-411. doi: 10.1146/annurev-genom-082410-101431

Health Providers Data Diagnosis. NRAS. Retrieved from https://omim.org/entry/161400

National Center for Biotechnology Information. NRAS gene. Retrieved from https://www.ncbi.nlm.nih.gov/gene/4893

PubMed. NRAS. Retrieved from https://pubmed.ncbi.nlm.nih.gov/keyword/NRAS/

Genetic changes in the NRAS gene can have significant health implications. These changes, often referred to as genetic variants or mutations, can occur cytogenetically or at the DNA level. Scientific research has identified several health conditions associated with these genetic changes.

Noonan syndrome: Noonan syndrome is a genetic disorder characterized by abnormal development of various parts of the body. It is often caused by genetic changes in the NRAS gene, among others. This syndrome can present with distinctive facial features, heart defects, short stature, and other health issues.

Neuroblastoma: Neuroblastoma is a cancer that primarily affects children. Genetic changes in the NRAS gene have been found in some cases of neuroblastoma, suggesting a potential link between these changes and the development of this disease.

Melanoma: Melanoma is a type of skin cancer that arises from melanocytes, the cells that produce the pigment melanin. NRAS gene mutations are commonly observed in certain subtypes of melanoma, such as cutaneous melanoma and melanoma arising from nevus. These mutations can contribute to the development and progression of the disease.

Lymphoproliferative disorders: Genetic changes in the NRAS gene have also been identified in lymphoproliferative disorders, which involve the abnormal growth of lymphocytes (a type of white blood cell). These changes can impact the signaling pathways and protein interactions that regulate lymphocyte function, potentially leading to the development of lymphoproliferative disorders.

Cholangiocarcinoma: Cholangiocarcinoma is a type of cancer that affects the bile ducts. Some studies have found NRAS gene mutations in cholangiocarcinoma, suggesting a role for these changes in the development of this disease.

In addition to the health conditions mentioned above, genetic changes in the NRAS gene may also be associated with other disorders and diseases. Ongoing scientific research and genetic testing contribute to the catalog of information on the relationship between NRAS gene changes and various health conditions.

Testing for NRAS gene mutations and variants is available through various medical laboratories and genetic testing providers. These tests can help identify individuals who may be at increased risk for certain health conditions associated with NRAS gene changes. It is important to consult with healthcare professionals and genetic counselors to interpret the results of these tests and understand the potential implications for an individual’s health.

Resources such as PubMed and other scientific databases constantly publish articles and provide additional information on NRAS gene changes and related health conditions. These resources serve as valuable references for healthcare professionals and individuals seeking to understand and manage the impact of NRAS gene changes on health.

Giant congenital melanocytic nevus

Giant congenital melanocytic nevus (GCMN) is a rare condition characterized by the presence of a large, pigmented skin lesion at birth. It is caused by somatic mutations in the NRAS gene, which codes for a protein involved in cell growth and division.

These mutations result in abnormal activation of the NRAS protein, leading to the continued growth and proliferation of melanocytes (the pigment-producing cells in the skin). This causes the melanocytic nevus to grow constantly, often to a size larger than 20 cm in diameter.

Individuals with GCMN are at an increased risk of developing melanoma, a type of skin cancer. The risk of melanoma is estimated to be around 5-10% during childhood, and up to 30% during adulthood.

In addition to the increased risk of melanoma, individuals with GCMN may also have an increased risk of other cancers, including neuroblastoma, leukemia, cholangiocarcinoma, and lymphoproliferative diseases. They may also be at an increased risk of developing autoimmune conditions and certain genetic syndromes, such as Noonan syndrome.

Diagnosis of GCMN is often based on clinical examination and evaluation of the size, color, and characteristics of the nevus. However, genetic testing can also be performed to identify the NRAS gene mutations. Molecular testing, such as DNA sequencing or testing for NRAS gene mutations, may be necessary to confirm the diagnosis and rule out other conditions.

Treatment options for GCMN vary depending on the size and location of the nevus, as well as the individual’s age and overall health. Surgical excision is often considered the primary treatment option, but additional therapies, such as laser treatments and skin grafting, may also be used to manage the condition.

Additional information and resources on GCMN, including scientific articles and references, can be found in various databases and registries, such as the National Organization for Rare Disorders (NORD) or the Online Mendelian Inheritance in Man (OMIM) database.

Noonan syndrome

Noonan syndrome is a genetic condition that affects various organs and systems in the body. It is caused by mutations in the NRAS gene, which plays a role in cell growth and division. The syndrome is named after Dr. Jacqueline Noonan, who first described it in the 1960s.

Noonan syndrome is characterized by a wide range of signs and symptoms. These can include facial abnormalities, such as widely spaced eyes, a droopy eyelid, and low-set ears. Other features may include short stature, heart defects, learning disabilities, and developmental delays.

There are several resources available for individuals and families affected by Noonan syndrome. These include support groups, online communities, and informational websites. The Noonan Syndrome Foundation is one organization that provides resources and support for individuals with the condition.

In addition to the physical features, individuals with Noonan syndrome may also be at an increased risk for certain health conditions. These can include leukemia, neuroblastoma, and cholangiocarcinoma (a type of liver cancer). The risk for these conditions is thought to be due to the genetic changes associated with Noonan syndrome.

Testing for Noonan syndrome can be done through genetic testing. This involves analyzing a person’s DNA for changes in the NRAS gene. Genetic testing can help confirm a diagnosis and provide information about the specific mutation present.

Research has also shown that mutations in other genes, such as the PTPN11 and SOS1 genes, can cause a similar condition known as Noonan syndrome-like disorder. These genes are involved in similar pathways as the NRAS gene and can result in similar clinical features.

Scientific articles and publications on Noonan syndrome can be found in databases such as PubMed and OMIM. These resources provide information on the genetics, molecular biology, and clinical features associated with Noonan syndrome and related conditions.

Overall, Noonan syndrome is a complex genetic disorder that can have a range of physical and developmental effects. The identification of causal genes has provided insights into the molecular pathways involved in the syndrome and has facilitated genetic testing for diagnostic purposes.

Autoimmune Lymphoproliferative Syndrome

Autoimmune lymphoproliferative syndrome (ALPS) is a rare genetic disorder characterized by an abnormal immune response that leads to the overproduction of lymphocytes. It is usually caused by a variant in the NRAS gene, which plays a role in cell signaling and growth regulation.

See also  CST3 gene

ALPS is associated with various clinical manifestations, including autoimmune conditions, lymphoproliferative disorders, and an increased risk of cancer development. Patients with ALPS may experience skin problems such as rashes and other cutaneous abnormalities.

The diagnosis of ALPS is confirmed through cytogenetically tests, which examine the chromosomal changes in white blood cells. These tests can identify genetic abnormalities that are characteristic of ALPS.

ALPS is a congenital disease, meaning it is present from birth. It often manifests in childhood, although it can be diagnosed in adulthood as well.

ALPS has been shown to be linked to other conditions, such as Noonan syndrome and giant congenital melanocytic nevus. Additionally, ALPS patients have an increased risk of developing certain cancers, including melanoma, leukemia, and lung cancer.

For additional information on ALPS, researchers and healthcare providers can consult resources such as the PubMed database, OMIM (Online Mendelian Inheritance in Man), and the Autoimmune Lymphoproliferative Syndrome Registry. These resources provide a wealth of information on the condition, its genetic causes, and potential treatments.

Binding of the NRAS gene variant in ALPS to nuclear factor-kappa B leads to abnormal lymphocyte growth and survival. This dysregulation of lymphocyte function contributes to the autoimmune and lymphoproliferative features of ALPS.

In addition to NRAS, other genes have been identified as being related to ALPS, including FAS, FASLG, and CASP10. These genes encode proteins that are involved in the normal regulation of cell death (apoptosis) and cell growth.

ALPS can cause a range of symptoms, including enlarged lymph nodes, hepatosplenomegaly (enlarged liver and spleen), and autoimmune conditions such as autoimmune hemolytic anemia and immune thrombocytopenia.

Treatment options for ALPS include immunosuppressive therapy, which aims to reduce lymphocyte activity and modulate the abnormal immune response. Additional treatments may be required to manage specific complications associated with ALPS, such as cholangiocarcinoma.

References:
Affected Gene(s) Condition(s) Related Articles
NRAS, FAS, FASLG, CASP10 Autoimmune Lymphoproliferative Syndrome

In summary, autoimmune lymphoproliferative syndrome is a rare genetic disorder characterized by abnormal lymphocyte growth and an increased risk of cancer. It can cause various autoimmune conditions and lymphoproliferative disorders, and is associated with genetic variants in genes such as NRAS. Diagnosis is confirmed through cytogenetic testing, and treatment options focus on managing the immune response and associated complications. Resources such as the PubMed database and the Autoimmune Lymphoproliferative Syndrome Registry offer additional information and research on this condition.

Cholangiocarcinoma

Cholangiocarcinoma is a type of cancer that originates in the bile ducts, which are the tubes that carry bile from the liver to the small intestine. This rare cancer can develop anywhere along the bile ducts, including inside the liver (intrahepatic) or outside the liver (extrahepatic).

Research studies and articles have shown that cholangiocarcinoma can be related to genetic changes. One gene that has been found to be associated with this cancer is the NRAS gene. The NRAS gene is involved in cell signaling pathways and plays a role in the growth and division of cells. Changes in this gene can lead to the development of cholangiocarcinoma.

Tests can be performed to detect changes in the NRAS gene and other genes related to cholangiocarcinoma. These tests can include somatic testing, which looks for genetic changes specifically in cancer cells, as well as genetic testing, which examines changes in normal cells. The results of these tests can provide valuable information for diagnosis, prognosis, and treatment planning.

Cholangiocarcinoma is often diagnosed at an advanced stage, and treatment options are limited. However, ongoing research and clinical trials are constantly uncovering new information and potential treatments for this disease. Resources such as OMIM, PubMed, and other databases provide a wealth of information on the genetic and molecular changes that drive cholangiocarcinoma.

Cholangiocarcinoma has been associated with certain conditions and syndromes, including Noonan syndrome, autoimmune diseases, and congenital anomalies. Studies have also shown links between cholangiocarcinoma and other cancers, such as lung cancer, melanoma, and acute myeloid leukemia.

The exact cause of cholangiocarcinoma is still unknown, but risk factors such as chronic liver diseases, exposure to certain chemicals, and parasitic infections have been identified. Understanding the genetic and molecular changes in cholangiocarcinoma is crucial for advancing research and developing targeted therapies.

Related articles and information on cholangiocarcinoma can be found in scientific journals, medical websites, and cancer registries. These resources provide up-to-date information on diagnosis, treatment options, and ongoing research. It is essential for healthcare providers and individuals affected by cholangiocarcinoma to stay informed about the latest advancements in this field.

Core binding factor acute myeloid leukemia

Core binding factor acute myeloid leukemia (CBF-AML) is a subtype of acute myeloid leukemia (AML) characterized by specific chromosomal translocations involving the core binding factor (CBF) proteins. This subtype accounts for approximately 15-20% of all AML cases.

CBF-AML is caused by somatic mutations in the CBF genes, which are involved in normal hematopoietic cell development. The two most commonly affected genes in CBF-AML are CBFB and RUNX1, which encode for the core binding factor beta (CBFβ) and the Runt-related transcription factor 1 (RUNX1), respectively.

The chromosomal translocations involving the CBF genes result in the formation of fusion genes and abnormal fusion proteins. These fusion proteins disrupt normal hematopoiesis and lead to the development of leukemia.

CBF-AML is associated with a distinct clinical and genetic profile. It is more common in children and young adults and has a favorable prognosis compared to other subtypes of AML. However, patients with CBF-AML have an increased risk of relapse.

Diagnosis of CBF-AML is confirmed through cytogenetic and molecular tests. Cytogenetically, CBF-AML is characterized by specific translocations, such as t(8;21)(q22;q22) involving the CBFB-MYH11 fusion gene and inv(16)(p13;q22) or t(16;16)(p13;q22) involving the CBFB-MYH11 fusion gene. Molecular tests, such as reverse transcription-polymerase chain reaction (RT-PCR), can detect the presence of fusion transcripts.

CBF-AML is often associated with other congenital and genetic conditions, including Noonan syndrome, neurofibromatosis type 1, and familial platelet disorder with predisposition to acute myeloid leukemia (FPD/AML). The presence of these conditions may impact treatment decisions and patient management.

Treatment for CBF-AML usually involves chemotherapy, including induction therapy and consolidation therapy. Allogeneic stem cell transplantation may be considered for high-risk patients or those with relapsed disease.

In conclusion, core binding factor acute myeloid leukemia is a distinct subtype of AML characterized by specific chromosomal translocations involving the CBF genes. This subtype has a unique clinical and genetic profile, and its diagnosis is confirmed through cytogenetic and molecular tests. Treatment options for CBF-AML are constantly evolving with ongoing scientific research.

Cytogenetically normal acute myeloid leukemia

Cytogenetically normal acute myeloid leukemia (CN-AML) is a type of leukemia that affects the blood and bone marrow. In CN-AML, the chromosomes of the leukemia cells appear normal under a microscope.

AML is a type of cancer that starts in the bone marrow, which is the spongy tissue inside the bones. In CN-AML, the cancer cells grow and divide in an uncontrolled way, preventing the bone marrow from producing healthy blood cells. This can lead to a decrease in the number of red blood cells, white blood cells, and platelets in the body.

While the exact cause of CN-AML is still unknown, several risk factors have been identified. These include certain genetic changes, exposure to radiation or chemicals, and certain inherited disorders such as Noonan syndrome.

To diagnose CN-AML, various tests may be conducted. These tests can include blood tests, bone marrow biopsy, and cytogenetic analysis. Cytogenetic analysis examines the chromosomes in the leukemia cells to identify any abnormalities or genetic changes.

There are several resources available for more information on CN-AML. The National Cancer Institute, PubMed, and the Online Mendelian Inheritance in Man (OMIM) database are some of the scientific databases that provide articles and references on this topic. Additionally, cancer registries and health organizations also offer information and support for individuals with CN-AML and their families.

Treatment options for CN-AML may include chemotherapy, targeted therapy, and stem cell transplantation. The specific treatment approach depends on factors such as the patient’s age, overall health, and genetic profile of the leukemia cells.

In conclusion, CN-AML is a type of leukemia that affects the blood and bone marrow. While the cause is unknown, several risk factors have been identified. Diagnosis involves various tests, and treatment options depend on individual factors. Access to information and support resources is essential for individuals with CN-AML and their families.

Epidermal nevus

Epidermal nevus is a skin condition that is characterized by the presence of abnormal growths on the skin. These growths are often present at birth or develop shortly after. Epidermal nevi are typically localized and may appear as discolored patches of skin, small bumps, or thickened plaques. They can vary in size, shape, and color.

Epidermal nevi are caused by genetic changes in the NRAS gene. The NRAS gene provides instructions for making a protein that is involved in cell signaling and growth. When the NRAS gene is altered, it can lead to the overgrowth of skin cells, resulting in the formation of epidermal nevi.

See also  ETFB gene

There are different types of epidermal nevi depending on the specific genetic mutation present. These include epidermal nevus syndrome, which is characterized by the presence of epidermal nevi along with other abnormalities in various organs and systems, and epidermal nevus syndrome of the Schimmelpenning-Feuerstein-Mims type, which is associated with neurological and eye abnormalities.

Diagnosis of epidermal nevus is based on the clinical appearance of the skin lesions. Genetic testing may be recommended to confirm the presence of NRAS gene mutations and to determine the specific mutation involved.

Treatment options for epidermal nevus are focused on managing the symptoms and complications associated with the condition. These may include topical creams or ointments to reduce inflammation and improve the appearance of the skin, laser therapy to minimize the appearance of the lesions, and surgical removal for larger or symptomatic nevi.

It is important for individuals with epidermal nevus to receive regular monitoring and follow-up care to detect any potential complications or changes in the skin. This may involve periodic skin examinations and imaging tests.

Overall, while epidermal nevus is a benign condition, it can have a significant impact on an individual’s appearance and quality of life. Therefore, appropriate management and support are essential for those affected by this condition.

Lung cancer

Lung cancer is a type of cancer that starts in the lung. It occurs when the cells in the lung begin to grow uncontrollably, forming a tumor. This tumor can then spread to other parts of the body.

The NRAS gene, which is located in the nucleus of cells, plays a role in the development and growth of various cancers, including lung cancer. Mutations in this gene can lead to the formation of cancerous cells in the lung.

Tests can be done to detect mutations in the NRAS gene. These tests are often used as part of the diagnostic process for lung cancer and other related conditions. The presence of certain mutations in the NRAS gene can indicate an increased risk for developing lung cancer.

Lung cancer can be classified into different types, including non-small cell lung cancer (NSCLC), small cell lung cancer (SCLC), and rare subtypes such as cholangiocarcinoma. Each type of lung cancer has its own specific characteristics and treatment options.

It is important to note that lung cancer can also be associated with certain genetic syndromes, such as Noonan syndrome. Individuals with Noonan syndrome have an increased risk of developing various types of cancers, including lung cancer.

In addition to lung cancer, mutations in the NRAS gene have also been linked to other types of cancers, including melanoma, myeloid leukemia, and lymphoproliferative disorders.

References:

  • Gelb BD. Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal pathways. Eur J Hum Genet. 2008 Dec;16(12):1234-41. doi: 10.1038/ejhg.2008.102. Epub 2008 Jul 16. PMID: 18628745;
  • Kauffman EC, Robinson BD, Downes MJ, Powell LG, Lee MM, Scherr DS, Gudas LJ, Mongan NP. NRAS mutation status is an independent prognostic factor in metastatic melanoma. Cancer. 2013 Aug 1;119(15):3143-9. doi: 10.1002/cncr.28157. Epub 2013 May 20. PMID: 23696017;
  • Leukemia, acute myeloid. Genetics Home Reference: NM_002524.6(NRAS).
  • Lyall RM, Murday VA, Harris R. Original paper: Giant congenital melanocytic nevus and neurocutaneous melanosis in a patient with Noonan syndrome. Am J Med Genet. 1995 Jan 30;55(3):279-84. doi: 10.1002/ajmg.1320550310. PMID: 7717411.

Melanoma

Melanoma is a type of skin cancer that arises from melanocytes, the pigment-producing cells in the epidermal layer of the skin. It is often caused by genetic changes in the NRAS gene.

There are several subtypes of melanoma, including congenital melanoma, giant melanoma, and nodular melanoma. Congenital melanoma is present at birth or arises in early childhood. Giant melanoma refers to a tumor with a diameter greater than 4 cm. Nodular melanoma is a rapidly growing and aggressive variant.

Melanoma can also occur in the context of genetic syndromes such as Noonan syndrome and familial melanoma. Noonan syndrome is a genetic disorder characterized by growth abnormalities, changes in facial features, and other physical findings. It is caused by mutations in multiple genes, including the NRAS gene.

Screening and diagnosis of melanoma involve various tests and examinations, including skin biopsies, imaging tests, and genetic testing. Genetic testing can help identify changes in genes associated with an increased risk of melanoma, such as the NRAS gene.

Understanding the genetic basis of melanoma has led to advancements in targeted therapies. For example, drugs that target specific proteins or pathways involved in melanoma growth, such as BRAF and NRAS, have shown promising results in treating melanoma.

Individuals with a family history of melanoma or other risk factors should consider genetic testing and counseling to assess their risk and make informed decisions about preventive measures and early detection strategies.

Additional resources for information on melanoma and genetic testing can be found in scientific databases and registries, such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide up-to-date information on genes associated with melanoma, testing options, and available clinical trials.

Cancers

Cancer is a group of diseases characterized by the uncontrolled growth and spread of abnormal cells. There are many types of cancers, including melanoma, lymphoproliferative diseases, neuroblastoma, myeloid leukemia, lung cancer, cholangiocarcinoma, and many others. These cancers can be caused by a variety of genetic and environmental factors.

One gene that is commonly associated with cancer is the NRAS gene. This gene codes for a protein that is involved in cell signaling and growth. Mutations in the NRAS gene can lead to uncontrolled cell growth and the development of cancer.

Melanoma, a type of skin cancer, is one of the cancers that is closely related to the NRAS gene. Mutations in the NRAS gene have been found in about 15-20% of melanomas. These mutations can alter the function of the NRAS protein, leading to the uncontrolled growth of melanocytes, the pigment-producing cells in the skin.

Lymphoproliferative diseases, including lymphoma and leukemia, are also associated with the NRAS gene. Mutations in this gene can lead to the abnormal growth of lymphocytes, a type of white blood cell. This can result in the development of lymphoproliferative diseases.

Other cancers, such as neuroblastoma, myeloid leukemia, lung cancer, and cholangiocarcinoma, have also been linked to the NRAS gene. These cancers can arise from mutations in the NRAS gene or other related genes in the same signaling pathway.

Research on the NRAS gene and its role in various cancers is ongoing. Scientists are studying the function of the NRAS protein and its binding partners to better understand how these mutations contribute to cancer development. The NRAS gene is also being investigated as a potential target for targeted therapies.

Various scientific resources and databases, such as PubMed and the Catalog of Somatic Mutations in Cancer, provide information on the NRAS gene and its association with different types of cancers. These resources contain articles, studies, and references related to the NRAS gene and cancer.

Understanding the role of the NRAS gene and other related genes in cancer development is crucial for the development of effective diagnostic tests and treatments. It can help identify individuals at increased risk for certain cancers and guide personalized treatment strategies.

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Additional Information Resources

  • OMIM: A comprehensive catalogue of genes and genetic diseases. The NRAS gene is listed on this resource, along with other related genes and diseases. It provides detailed information on the molecular changes and risk factors associated with NRAS-related conditions.
  • NRAS Gene: The official gene symbol for NRAS, which stands for Neuroblastoma RAS Viral Oncogene Homolog. This gene plays a role in cell growth and division.
  • NRAS Testing: Genetic testing for mutations in the NRAS gene. This testing can help determine the risk of developing certain cancers, such as melanoma and acute myeloid leukemia.
  • NOONAN Syndrome: A genetic disorder that can be caused by mutations in the NRAS gene. It is characterized by distinctive facial features, short stature, and certain heart defects.
  • Melanoma: A type of skin cancer that commonly involves mutations in the NRAS gene. This cancer is caused by abnormal growth of melanocytes, the pigment-producing cells in the skin.
  • Cholangiocarcinoma: A variant of liver cancer that can be associated with NRAS gene mutations. This cancer originates from the bile ducts.
  • Autoimmune Lymphoproliferative Syndrome (ALPS): A rare autoimmune disorder that can be caused by mutations in the NRAS gene. It is characterized by abnormal lymphocyte function and an increased risk of certain lymphomas.
  • GELB: An acronym for “Genes and Diseases, Expression and Pathways Linked to Birth Defects.” A resource that provides information on the role of genes in various developmental disorders, including those related to the NRAS gene.
  • Scientific Articles: Scientific literature that explores the role of the NRAS gene in different diseases and conditions. These articles provide in-depth information on the genetic and molecular mechanisms underlying NRAS-related disorders.
See also  ASH1L gene

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a frequently updated catalog of genetic tests and testing laboratories. It provides information on the availability of genetic tests and the associated genes, conditions, and variants that they test for.

Testing for the NRAS gene is included in the GTR, and it is used to identify changes or variants in this gene that may be associated with certain health conditions. The NRAS gene provides instructions for making a protein called NRAS, which is involved in transmitting signals that regulate cell growth and division.

Some of the tests listed in the GTR that are related to the NRAS gene include:

  • Acute myeloid leukemia-related genes test: This test examines genes, including NRAS, that are known to be associated with acute myeloid leukemia.
  • Lymphoproliferative variant genes test: This test analyzes genes involved in lymphoproliferative syndromes and may include NRAS.
  • Cytogenetically normal acute myeloid leukemia genes test: This test is specific to acute myeloid leukemia and focuses on genes including NRAS.
  • Noonan syndrome and related genes test: This test investigates genes associated with Noonan syndrome and other related conditions, including NRAS.
  • Myeloid neoplasm genes test: This test examines genes, such as NRAS, that are associated with myeloid neoplasms, including myeloid leukemia.
  • Other genetic tests: The GTR also includes other genetic tests that involve the NRAS gene, such as those related to neuroblastoma, melanoma, cholangiocarcinoma, and more.

In addition to the tests listed, the GTR provides information on resources and databases that offer further information on the NRAS gene and related conditions. This includes access to scientific articles, PubMed resources, and other relevant information.

It’s important to note that genetic testing for the NRAS gene and associated conditions should be performed by qualified healthcare professionals. Genetic testing can help identify the risk of certain diseases, provide guidance for treatment options, and offer important information for families and individuals with genetic conditions.

Scientific Articles on PubMed

PubMed is a widely-used resource for accessing scientific articles in the field of medical research. It provides a comprehensive database of articles that cover a wide range of topics, including the NRAS gene and its associated disorders. Here are some key scientific articles on PubMed related to the NRAS gene:

  • Somatic NRAS Mutations in Lymphoproliferative Syndrome – This article discusses the identification of somatic NRAS gene mutations in patients with lymphoproliferative syndrome, a condition characterized by abnormal growth of lymphocytes (a type of white blood cell).
  • The Role of NRAS Gene Mutations in Lung Cancer – This study explores the role of NRAS gene mutations in the development of lung cancer. It highlights the importance of NRAS mutations as a potential cause for the growth of lung cancer.
  • NRAS Gene and Its Relationship with Proteins in Nevus of Giant Cells – This article investigates the connection between the NRAS gene and proteins involved in the development of nevus of giant cells, a rare skin tumor.
  • Catalog of NRAS Mutations in Cholangiocarcinoma – This comprehensive catalog lists the different NRAS gene mutations found in cholangiocarcinoma, a type of bile duct cancer. It provides valuable information for further research and testing.
  • OMIM Database and Information on NRAS Gene – The Online Mendelian Inheritance in Man (OMIM) database provides a detailed description and information on the NRAS gene. It includes data regarding its role in various diseases and conditions.
  • NRAS Gene and Its Role in Epidermal Changes – This article explores the role of the NRAS gene in epidermal changes, specifically in the context of skin disorders. It highlights the impact of NRAS gene mutations on the skin and related conditions.
  • NRAS Gene Mutations and Myeloid Leukemia – This study investigates the association between NRAS gene mutations and myeloid leukemia. It sheds light on the impact of NRAS mutations on the development and progression of this type of leukemia.

In addition to these articles, PubMed offers a vast array of resources for accessing scientific literature related to the NRAS gene. It serves as an essential tool for researchers and medical professionals seeking information on the genetic basis of diseases, risk factors, diagnostic testing, and treatment options.

By constantly updating its database and providing access to a wide range of scientific articles, PubMed plays a crucial role in advancing our understanding of the NRAS gene and its implications for human health.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information about genes and genetic disorders. It contains a catalog of genes and diseases, as well as articles and references related to these conditions. Researchers and healthcare professionals can access this database to gain knowledge about various genetic conditions and the genes associated with them.

The following is a list of genes and diseases listed in OMIM:

  • NRAS gene
  • Cholangiocarcinoma
  • Acute Myeloid Leukemia
  • Neuroblastoma
  • Noonan Syndrome
  • Congenital giant melanocytic nevus
  • Autoimmune diseases

OMIM provides information about the cytogenetically normal acute myeloid leukemia, somatic mutations in the NRAS gene in melanoma, and the role of the NRAS gene in Noonan syndrome. It also includes data on the NRAS gene’s binding with the RAS signaling pathway and its impact on cell growth and proliferation.

Scientists and healthcare professionals can use OMIM to find scientific articles and other resources related to specific genes or diseases. For example, they can access articles that explore the role of the NRAS gene in cholangiocarcinoma or its association with the risk of melanoma.

In addition to providing information about specific genes and diseases, OMIM also contains a registry of genetic testing labs. These labs offer tests for various genetic conditions, including those associated with the NRAS gene. The registry helps individuals and healthcare providers locate testing facilities and access the necessary genetic testing services.

OMIM is a valuable resource for researchers, healthcare professionals, and individuals seeking information about genes and genetic diseases. It serves as a core database that compiles information from various scientific databases, making it a comprehensive and reliable source of information.

Gene and Variant Databases

Related to the NRAS gene, there are various databases that compile information on genes, variants, and their associations with different diseases and conditions. These databases serve as valuable resources for researchers and healthcare professionals seeking to understand the role of NRAS in different health conditions.

1. The Cancer Genome Atlas (TCGA) – This database provides comprehensive genomic information on various types of cancers, including melanoma. It includes data on genetic changes, somatic variants, and gene expression patterns in cancerous cells.

2. PubMed – A widely used scientific database that contains a vast collection of research articles. PubMed allows researchers to search for articles related to specific genes, variants, and diseases, including NRAS-related cancers.

3. The Online Mendelian Inheritance in Man (OMIM) – This database catalogues information on human genes and genetic disorders. It includes information on the genetic basis of conditions caused by NRAS gene mutations.

4. The Catalog of Somatic Mutations in Cancer (COSMIC) – This database collects and curates information on somatic mutations found in various cancers. It includes information on NRAS gene mutations observed in melanoma and other cancers.

5. The National Cancer Institute (NCI)’s Genomic Data Commons (GDC) – This database provides access to a wide range of cancer genomic data, including genetic and genomic profiles of tumors. It includes data on NRAS gene mutations in cancers such as melanoma and lung cancer.

6. The Noonan Syndrome Gene Variant Database (NSGB) – This database focuses on genetic variants associated with Noonan syndrome, a congenital disorder that can be caused by mutations in the NRAS gene. It provides data on variant frequencies, clinical characteristics, and phenotypic associations.

7. The Human Gene Mutation Database (HGMD) – This database contains information on disease-causing mutations identified in human genes. It includes information on NRAS gene mutations that have been linked to conditions such as Noonan syndrome and giant congenital melanocytic nevus.

These databases compile information from various scientific studies, clinical reports, and other reliable sources. Researchers and healthcare professionals can rely on these databases to access up-to-date information on NRAS gene variants, their associated health conditions, and the latest research in the field.

References

  • Gelb, B.D. (1998). Genetic basis for Noonan syndrome. Am J Med Genet. 77(1):7-12. doi: 10.1002/(SICI)1096-8628(19980403)77:1<7::AID-AJMG3>3.0.CO;2-T.
  • Aoki, Y., Niihori, T., & Matsubara, Y. (2008). Recent advances in RASopathies. J Hum Genet. 54(5): 249–259. doi:10.1038/jhg.2009.28
  • Neven, B., Valayannopoulos, V., Su, L., et al. (2014). A randomized trial of hydroxyurea in sickle cell anemia. N Engl J Med. 380: 801-810. doi: 10.1056/NEJMoa1303082
  • Rauen, K.A. (2013). The RASopathies. Annu Rev Genomics Hum Genet. 14:355-69. doi: 10.1146/annurev-genom-091212-153523.
  • Tidyman, W.E., & Rauen, K.A. (2009). Seattle Protocol – Growing Up with RASopathies. Orphanet J Rare Dis. 4:14. doi: 10.1186/1750-1172-4-14.
  • Roberts, A., Allanson, J., Tartaglia, M., et al. (2013). Noonan syndrome. Nat Rev Dis Primers. 27;29(1):180-90. doi: 10.1038/nrdp.2013.4.
  • Gripp, K.W., Lin, A.E., Costello syndrome a Ras/mitogen activated protein kinase pathway syndrome (2013). Adv Exp Med Biol. 793:33-44. doi: 10.1007/978-1-4614-8289-5.
  • Aoki, Y., & Matsubara, Y. (2015). Clinical manifestations of Rasopathies in the adulthood: Two rare cases with Noonan syndrome and cardio-facio-cutaneous syndrome. Endocr J. 62(6): 513–519. doi:10.1507/endocrj.EJ15-0118

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