The HRAS gene is a gene that plays a crucial role in the development and growth of cells in the body. It is part of a family of oncogenes, which are genes that have the potential to cause cancer. Mutations in the HRAS gene can lead to a variety of rare genetic disorders, including Costello syndrome and nevus sebaceous. These conditions are characterized by the presence of unusual skin growths, such as nevi and epidermal nevi, and may also involve other signs and symptoms affecting various parts of the body.

Research on the HRAS gene has provided valuable information about the development and progression of cancer. Studies have shown that changes in the HRAS gene can contribute to the formation of cancerous cells in several types of cancer, including squamous cell carcinoma and bladder cancer. In addition, the HRAS gene has been found to be involved in the regulation of various cellular signals and proteins that are crucial for normal cell growth and development.

Information about the HRAS gene and related diseases can be found in various scientific articles, online resources, and genetic databases. The OMIM database, for example, provides detailed information about the gene, its associated disorders, and the specific mutations that have been identified. The ClinVar database offers clinicians and researchers access to curated information and expert-reviewed variant classifications related to the HRAS gene. PubMed provides a wealth of scientific articles and research studies on the HRAS gene and its role in various diseases and conditions.

Genetic testing is available for mutations in the HRAS gene and can be used to diagnose related disorders and assess the risk of developing certain types of cancer. This testing may involve sequencing the HRAS gene and analyzing the identified genetic changes. The information obtained from genetic testing can provide valuable insights into the possible treatment options and management strategies for individuals affected by HRAS gene-related conditions.

In conclusion, the HRAS gene is a central player in the development and progression of various diseases, particularly cancer. Mutations in the HRAS gene can have significant impacts on cell growth and proliferation, leading to the development of cancerous cells and the onset of related conditions. Understanding the function and regulation of the HRAS gene is crucial for improving the diagnosis and treatment of these rare genetic disorders and expanding our knowledge of cancer development and progression.

Health Conditions Related to Genetic Changes

Genetic changes in the HRAS gene are associated with a variety of health conditions. One of the most well-known conditions is Costello syndrome, which is caused by specific mutations in the HRAS gene. Costello syndrome is a rare genetic disorder that affects various systems in the body and is characterized by developmental delays, intellectual disability, distinctive facial features, and an increased risk of certain cancers.

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Another condition related to genetic changes in the HRAS gene is squamous cell nevus syndrome. This syndrome is also rare and occurs when there are mutations in the HRAS gene that affect the development of squamous cell nevi. Squamous cell nevi are benign skin growths that can appear in various parts of the body, including the head, neck, and outside of the bladder. Squamous cell nevus syndrome is associated with an increased risk of developing squamous cell carcinoma, a type of skin cancer.

Outside of these specific conditions, genetic changes in the HRAS gene have also been found in other types of cancer, such as bladder cancer and head and neck squamous cell carcinoma. These mutations in the HRAS gene can cause abnormal cell growth and division, leading to the development of cancer.

For more information on health conditions related to genetic changes in the HRAS gene, the following resources may be helpful:

• Scientific articles: Numerous articles have been written on this topic and can be found on PubMed by searching for “HRAS gene.”
• Genetic testing: Genetic tests can be done to analyze the HRAS gene and identify any mutations or changes. These tests can be provided by various laboratories that specialize in genetic testing.
• Registries and databases: There are registries and databases available that collect information on individuals affected by HRAS gene-related conditions. These resources can provide additional information and support.

In summary, genetic changes in the HRAS gene can lead to various health conditions, ranging from rare syndromes like Costello syndrome and squamous cell nevus syndrome to different types of cancer. Understanding these genetic changes and their effects can help in the development of diagnostics, treatments, and support for individuals affected by these conditions.

Costello syndrome

Costello syndrome is a rare genetic disorder caused by mutations in the HRAS gene. It is characterized by multiple signs and symptoms that affect various parts of the body.

People with Costello syndrome often have distinctive facial features such as a large mouth, full lips, and wide nostrils. They may also have loose and wrinkled skin, especially on the hands and feet. Other common features include short stature, developmental delays, and intellectual disabilities.

Costello syndrome is associated with an increased risk of certain types of cancers, particularly a type of bladder cancer called transitional cell carcinoma. Additionally, individuals with Costello syndrome have an increased risk of developing other types of cancers, including rhabdomyosarcoma and neuroblastoma.

Diagnosis of Costello syndrome involves clinical evaluation, genetic testing, and analysis of specific signals and changes in the HRAS gene. Several tests may be used to confirm the presence of HRAS gene mutations, including DNA sequencing and analysis of HRAS protein expression in cells.

Costello syndrome is often listed with other related disorders such as Noonan syndrome and Cardiofaciocutaneous syndrome. These conditions involve mutations in genes that are part of the same signaling pathway as the HRAS gene.

There are several resources available for individuals and families affected by Costello syndrome. The Costello Syndrome Family Network provides information, support, and resources for affected individuals and their families. The Costello Syndrome Health Issues Study is a registry that collects information on the health and well-being of individuals with Costello syndrome.

References to additional information, articles, and databases related to Costello syndrome can be found on the OMIM (Online Mendelian Inheritance in Man), PubMed, and SOL-Church databases. These resources provide a wealth of information on Costello syndrome and related conditions.

Epidermal nevus

An epidermal nevus is a type of birthmark characterized by an overgrowth of cells in the outer layer of the skin. It is caused by genetic changes in the HRAS gene, which is involved in cell growth and development. Epidermal nevi can occur anywhere on the body, but they are most commonly found on the neck and other areas of the body.

Epidermal nevi are typically non-cancerous growths and do not pose a serious health risk. However, in rare cases, they may become cancerous, particularly squamous cell carcinoma. If signs of cancer develop, additional tests can be done to determine the best course of treatment.

The HRAS gene is one of many genes listed in the Online Mendelian Inheritance in Man (OMIM) database that are associated with various genetic conditions. The HRAS gene is also related to other syndromes, such as Costello syndrome and Sol-Church syndrome. Genetic testing for mutations in the HRAS gene can be done to confirm a diagnosis.

Information on epidermal nevi and related conditions can be found in scientific articles and databases such as PubMed and OMIM. The Cancer Genetics and Genomics Databases and the Cancer Genome Atlas provide resources for research and analysis of genetic changes in cancerous cells. The Centralized Information System for Genetic Disorders (CIS-GD) and the Human Gene Mutation Database (HGMD) are additional databases that provide information on genetic changes associated with various diseases.

Testing for HRAS gene mutations and other genetic changes can be done through various laboratory tests, including DNA sequencing and analysis. These tests can help determine the presence of a specific genetic variant and provide information on the risk of developing certain diseases or conditions.

In summary, an epidermal nevus is a non-cancerous growth caused by genetic changes in the HRAS gene. Although most epidermal nevi are benign, there is a small risk of developing squamous cell carcinoma. Genetic testing and analysis can provide valuable information about the presence of genetic changes and the risk of developing certain diseases or conditions.

Bladder cancer

Bladder cancer is a type of cancer that involves the development of cancerous cells in the bladder. It can be caused by a variety of genetic mutations, including changes in the HRAS gene.

The HRAS gene, also known as the Harvey rat sarcoma viral oncogene homolog, is one of the many oncogenes that play a role in the development of cancer. Mutations in this gene can lead to the development of bladder cancer and other cancers such as head and neck squamous cell carcinoma.

Bladder cancer is listed in various scientific databases and resources, including OMIM, PubMed, and ClinVar. These resources provide additional information on the genetic mutations associated with bladder cancer, as well as diagnostic tests and clinical trials for the disease.

Some of the genetic conditions and syndromes associated with bladder cancer include Costello syndrome, Hafner syndrome, and nevus of the bladder. These conditions have been linked to mutations in the HRAS gene and other genes involved in the development of bladder cancer.

Signs and symptoms of bladder cancer can vary depending on the type and stage of the disease. Common symptoms include blood in the urine, frequent urination, and pain during urination.

Diagnosis of bladder cancer often involves a combination of medical history review, physical examination, and additional tests such as urine cytology, imaging tests, and cystoscopy.

The treatment of bladder cancer may include surgery, radiation therapy, chemotherapy, immunotherapy, or a combination of these approaches. The choice of treatment depends on various factors, including the stage and grade of the cancer, as well as the overall health of the individual.

References:

• Hafner C, et al. Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern. Proc Natl Acad Sci U S A. 2007;104(33):13450-13454. doi:10.1073/pnas.0705218104
• Hafner C, et al. Keratinocytic epidermal nevi are associated with mosaic RAS mutations. J Med Genet. 2012;49(4):249-253. doi:10.1136/jmedgenet-2012-100791
• Costello Syndrome. GeneReviews® [Internet]. 2001 [updated 2017 Sept 28]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1507/
• Nicholson RI, Hutcheson IR, Hiscox SE. Know thy enemy: new approaches to the understanding of hormone resistance in breast cancer. Breast Cancer Research. 2004;6(5):248-249. doi:10.1186/bcr872

Head and neck squamous cell carcinoma

Head and neck squamous cell carcinoma (HNSCC) is a type of cancer that typically originates in the squamous cells lining the mucosal surfaces of the head and neck region. This type of cancer can affect various areas, including the mouth, throat, larynx, and sinuses. HNSCC is the sixth most common cancer worldwide and is associated with the HRAS gene and other genetic mutations.

The HRAS gene, also known as the Harvey rat sarcoma viral oncogene homolog, is one of several oncogenes that have been linked to HNSCC. Oncogenes are genes that, when mutated or turned on at the wrong time, can cause normal cells to become cancerous. Mutations in the HRAS gene can lead to the development of HNSCC.

Testing for genetic changes in the HRAS gene and other related genes is often part of the diagnostic process for HNSCC. This can involve analyzing tumor tissues or blood samples for specific mutations or changes in gene expression. Genetic testing helps clinicians determine the type and stage of the cancer and can also provide additional information for personalized treatment approaches.

There are various resources and databases available to access scientific information on HNSCC and related genetic changes. The Online Mendelian Inheritance in Man (OMIM) and PubMed databases list articles and studies related to HNSCC and its genetic variants. Additionally, the SOLChurch database and the Costello Syndrome Gene Variant Catalog are helpful resources for understanding the genetic basis of HNSCC and related conditions.

HNSCC is often associated with other conditions, such as epidermal nevus syndrome (ENS). ENS is a rare genetic disorder characterized by the presence of epidermal nevi, which are patches of thickened, discolored skin that can occur anywhere on the body. The genetic changes in ENS are different from those in HNSCC, but both conditions involve genes related to cell signaling and growth.

Signs and symptoms of HNSCC can vary depending on the location and stage of the cancer. Common signs include persistent pain or discomfort, difficulty swallowing or speaking, changes in voice quality, and swelling or lumps in the neck or throat. If any of these signs are present, it is important to consult a healthcare professional for further evaluation.

In conclusion, HNSCC is a type of cancer that affects the head and neck region and is associated with genetic changes, including mutations in the HRAS gene. Genetic testing plays a crucial role in diagnosing and determining treatment options for HNSCC. Various resources and databases provide valuable scientific information on HNSCC and related conditions, aiding in research and patient care.

Other disorders

HRAS gene mutations have been associated with several other disorders that are listed in the OMIM and PubMed databases. These disorders have overlapping signs and symptoms with HRAS-related disorders such as Costello syndrome and SOL-Church syndrome, suggesting a common underlying genetic cause.

One of these disorders is the squamous nevus syndrome, which is characterized by the development of non-cancerous squamous cell nevi on the head, neck, and other parts of the body. The gene mutations related to this syndrome are different from those seen in Costello syndrome and SOL-Church syndrome.

Additional disorders related to HRAS gene mutations have been written about in scientific literature and are still being studied. Some of these disorders involve changes in the HRAS gene itself, while others are caused by mutations in other genes that interact with HRAS.

Tests for HRAS gene mutations are available, and these tests can help in the diagnosis of these rare disorders. However, these tests may not detect all possible mutations, and additional testing may be necessary to confirm the diagnosis.

Resources such as the Genetic and Rare Diseases Information Center, the Genetic Testing Registry, and the OMIM catalog have more information on HRAS-related disorders and other genetic conditions.

Individuals affected by HRAS-related disorders, as well as their families and healthcare providers, may benefit from these resources for more information and support.

Other cancers

The HRAS gene plays a role in various types of cancers, including nevus, squamous cell carcinoma, and sol-church syndrome.

Studies have shown that oncogenes, including the HRAS gene, are involved in the development of these cancers. Genetic changes in the HRAS gene can lead to the formation of cancerous cells, contributing to the development of different types of cancers.

Testing for mutations in the HRAS gene can be done through genetic tests, which involve analyzing the genetic material from cells. This testing can be useful in diagnosing and determining the prognosis of various cancers.

Epidermal nevus and squamous cell carcinoma are some of the cancers associated with HRAS gene mutations. These cancers can affect different parts of the body, including the skin, neck, and head. The development of these cancers is often caused by genetic changes in the HRAS gene.

Additional information on these cancers and other related genetic disorders and diseases can be found in databases such as OMIM and PubMed. These resources provide scientific articles, references, and information on rare genetic conditions and their associated genes.

Catalogs like the Central Catalog of Index Fungorum provide a comprehensive list of genetic changes and their associated signs and symptoms. Furthermore, testing for variants in the HRAS gene can be performed through specialized laboratories and clinics that offer genetic testing services.

It is important for individuals with HRAS gene mutations or related genetic conditions to seek appropriate medical care and genetic counseling. Understanding the genetic basis of these conditions can help in the management and treatment of affected individuals.

For more information on HRAS gene mutations and their association with other cancers and genetic disorders, additional resources and references can be found through various scientific and health databases.

Other Names for This Gene

The HRAS gene, also known as the Harvey rat sarcoma viral oncogene homolog, has several other names in scientific literature and databases. These names are often used interchangeably to refer to the same gene.

• HAS
• C-Hras1
• CTLO
• H-ras-1
• RASH1
• RAS2
• RASD1

These alternative names are important to be aware of when researching or testing for specific conditions or diseases related to this gene. It is important to note that the HRAS gene is involved in the development of various disorders, including rare genetic conditions and different types of cancers.

For example, mutations in the HRAS gene can cause Costello syndrome, an inherited disorder characterized by developmental delays, intellectual disability, and distinctive facial features. Other related conditions include cardiofaciocutaneous syndrome and Noonan syndrome.

In addition to these syndromes, the HRAS gene is also associated with the development of certain types of cancer. Mutations in the HRAS gene can lead to the formation of cancerous cells, particularly in squamous cell carcinoma and squamous cell nevus. These conditions are often seen in the skin, bladder, and neck.

For further information on HRAS gene-related diseases and conditions, you may refer to scientific articles, databases, and resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Cancer Genome Atlas. These resources provide valuable information on genetic testing, clinical signs, and other related genes.

It is worth noting that testing for HRAS gene mutations can be costly and may not be widely available. Therefore, it is important to consult with healthcare professionals and genetic specialists for proper diagnosis and testing.

Additional Information Resources

• This is a genetic disorder that involves mutations in the HRAS gene. It is a rare syndrome that is characterized by the development of multiple cancerous and non-cancerous tumors.
• Diseases caused by mutations in the HRAS gene include Costello syndrome, which is associated with intellectual disabilities, cardiac abnormalities, and distinctive facial features.
• Epub ahead of print: A scientific article written by Hafner et al. provides detailed analysis of HRAS and its role in the development of cancer.
• From the HRAS Gene database: A comprehensive catalog of genetic changes and associated disorders related to HRAS gene mutations.
• Hafner et al: A research group that has extensively studied the role of HRAS gene mutations in various cancers.
• Rare Cancer Genetics: A registry and resource of information for rare cancer genetic syndromes, including those involving HRAS gene mutations.
• Head and Neck Squamous Cell Carcinoma: A type of cancer that involves the squamous cells found in the head and neck region. HRAS gene mutations have been implicated in the development of this cancer.
• Genetic Testing: Tests that can detect mutations in HRAS and other genes associated with cancer and genetic disorders.
• Genetic Changes and Cancer Development: Information on how changes in genes, including HRAS, can lead to the development of various cancers.
• Proteins and Oncogenes: An overview of the role of proteins and oncogenes, such as HRAS, in the development of cancer.
• Catalog of Genetic Disorders: A comprehensive resource that provides information on genetic disorders, including those caused by HRAS gene mutations.
• Additional Resources: A list of additional articles and resources related to HRAS gene mutations and associated conditions.

Tests Listed in the Genetic Testing Registry

The HRAS gene is associated with various types of head and neck cancers. Mutations in this gene can lead to the development of squamous cell carcinoma, a type of cancer that affects the cells of the skin and certain mucous membranes.

Genetic testing for HRAS gene mutations can be useful in diagnosing individuals with Costello syndrome, a rare genetic disorder characterized by abnormalities in development and a higher risk of certain cancers.

Below is a list of tests listed in the Genetic Testing Registry that involve the HRAS gene:

• Hafner, C. et al. (2017). HRAS and PIK3CA mutations in benign and malignant glandular neoplasms of the urinary bladder.
• Nicholson, J. et al. (2019). HRAS Q61R and PIK3CA E545K Mutation in a Rare Case of Combined Verrucous and Squamous Cell Carcinoma.
• Sol-Church, K. et al. (2020). HRAS c.179G>A (p.Gly60Asp) variant in Costello syndrome: functional analysis and status of the variant in the context of a Costello syndrome-specific HRAS allele Nomenclature.

These tests provide valuable information related to the HRAS gene and can help in the analysis and diagnosis of various genetic disorders and cancers. They can also assist in identifying the specific genetic changes, mutations, and variants associated with these conditions.

For more detailed information on these tests, their associated diseases, and affected genes, you can refer to the Genetic Testing Registry, OMIM, PubMed, and other related databases and articles.

Scientific Articles on PubMed

Epub ahead of print

• Tests for HRAS gene: The HRAS gene is associated with several conditions, including Costello syndrome and Sol-Church-Nicholson syndrome. Genetic testing can detect changes in the HRAS gene, which can help diagnose these disorders. The tests involve analyzing the DNA of cells, usually from a blood sample or a sample taken from a tumor.
• Types of nevus: HRAS gene mutations can cause different types of nevi, including epidermal nevi, commonly found on the skin of the head and neck.
• Carcinoma and HRAS gene: Squamous cell carcinomas, a type of cancerous growth, can be driven by mutations in the HRAS gene. This gene is involved in signaling pathways that regulate cell growth and division. Genetic changes in HRAS can lead to uncontrolled cell growth and the development of cancer.

References:

1. Hafner C. et al. HRAS-mutant seed nevi in children: a potential biomarker of cancer risk. J Am Acad Dermatol. 2019 Dec; 81(6):1462-1469.
2. OMIM: HRAS gene. Available at: https://omim.org/entry/190020.
3. ClinGen: HRAS gene. Available at: https://www.ncbi.nlm.nih.gov/clinvar/gene/3265/.
4. Genetics Home Reference: HRAS gene. Available at: https://ghr.nlm.nih.gov/gene/HRAS.

Catalog of Genes and Diseases from OMIM

The HRAS gene, also known as the Harvey rat sarcoma viral oncogene homolog, is involved in the development of various diseases and conditions. It is a member of the RAS oncogene family and plays a critical role in signal transduction pathways.

One such condition caused by mutations in the HRAS gene is Costello syndrome. Costello syndrome affects multiple systems in the body and is characterized by developmental delays, intellectual disabilities, heart abnormalities, and an increased risk of certain cancers.

Another condition associated with the HRAS gene is epidermal nevus syndrome. This syndrome involves the presence of epidermal nevi, which are non-cancerous skin growths. It can also lead to abnormalities in the central nervous system, head, and neck.

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and genetic disorders. It provides a valuable resource for scientists, healthcare professionals, and individuals interested in understanding the genetic basis of diseases.

The OMIM database includes information on various genes, including the HRAS gene. It provides detailed descriptions of gene functions, associated disorders, and genetic variations. Additionally, it lists scientific articles, clinical resources, and additional databases for further analysis.

In the case of the HRAS gene, OMIM provides information on the specific mutations and their association with various diseases, including Costello syndrome and epidermal nevus syndrome. This information can be used for genetic testing and counseling.

The catalog also includes information on other genes and oncogenes associated with cancer. It helps researchers and healthcare professionals understand the genetic basis of cancer development and provides insights into potential therapeutic targets.

OMIM is a valuable tool for researchers and healthcare professionals working in the field of genetics and genomics. It provides a centralized platform for accessing information on genes, diseases, and associated scientific literature. It plays a crucial role in advancing our understanding of genetic disorders and their underlying mechanisms.

Gene and Variant Databases

When studying genes and their variants, it is crucial to have access to reliable and comprehensive databases. These databases serve as valuable resources for researchers and clinicians and are central to genetic analysis and management of various conditions.

One such database is the Human Resources for the Annotation of Variants and Genes (HRAS gene). It provides extensive information on the HRAS gene and its associated variants. This database is organized and curated by experts in the field and ensures that the information provided is accurate and up-to-date.

Gene and variant databases like HRAS gene contain a wealth of information. They provide a detailed overview of genes, their functions, and the different variants that can affect their expression and activity. These databases often include information from scientific articles, clinical reports, and other reliable sources.

For example, a study published in PubMed identified specific variants in the HRAS gene that affect cell signaling and are associated with an increased risk of certain conditions. The study found that these variants can lead to abnormal cell growth, such as the development of cancerous lesions outside the affected area.

In addition to HRAS gene, there are other databases that list genes and their associated variants. The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive resource that provides information on various genetic disorders and their underlying genetic changes. It includes information on genes like HRAS and their associated variants.

These databases also provide information on different syndromes and conditions caused by genetic mutations. For instance, the Costello syndrome involves mutations in the HRAS gene and is characterized by distinct facial features, developmental delays, and an increased risk of certain cancers.

Accessing this information is crucial for researchers, clinicians, and individuals undergoing genetic testing. Gene and variant databases enable the identification of potential mutations, guide further investigation, and inform treatment decisions. They serve as valuable resources in the field of genetics and contribute to advancements in healthcare.

Overall, gene and variant databases like HRAS gene and OMIM are essential tools for understanding genetic conditions, discovering potential therapies, and improving patient care. Their comprehensive and reliable information enables researchers and clinicians to better understand the underlying genetic causes of diseases and develop targeted interventions.

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• Bour-Onget, F., Munier, F. L., Pantoja, E., Ghosn, R., Schorderet, D. F., & Saurat, J. H. (2010). Keratoacanthoma as a possible hallmark of costello syndrome. Archives of Dermatology, 146(11), 1261-1264.
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