EGFR gene – Austra Health

The EGFR gene, or epidermal growth factor receptor gene, is a key gene involved in regulating cell growth. It provides instructions for making a protein called the epidermal growth factor receptor (EGFR). This receptor plays a critical role in cell signaling, which is essential for normal development and function.

In the context of cancer, mutations or changes in the EGFR gene can lead to the abnormal activation of the EGFR protein, resulting in uncontrolled cell growth and the formation of tumors. EGFR gene mutations are commonly found in lung cancer and certain types of cholangiocarcinoma.

Scientific articles, databases, and resources such as OMIM, PubMed, and the Genetic Testing Registry provide additional information on EGFR gene variants and their association with various diseases and conditions. These databases list references and guidelines for genetic testing and offer valuable information for healthcare professionals and researchers.

Testing for changes in the EGFR gene is a valuable tool in the diagnosis and management of certain cancers and other genetic conditions. By identifying specific mutations, healthcare providers can personalize treatment plans and monitor how patients’ cells respond to targeted therapies.

Health Conditions Related to Genetic Changes

Genetic changes in the EGFR gene have been linked to various health conditions. These conditions affect different parts of the body, but they all involve abnormalities in the EGFR gene. Here are some of the health conditions associated with genetic changes in this gene:

Lung cancer: Genetic changes in the EGFR gene can contribute to the development of lung cancer. Specific variants of the EGFR gene have been identified as being associated with an increased risk of developing certain types of lung cancer. Testing for these genetic changes can help in the diagnosis and treatment of lung cancer.
Epidermal growth factor receptor (EGFR)-related cholangiocarcinoma: This is a rare form of liver cancer that is related to abnormalities in the EGFR gene. The EGFR gene plays a role in the growth and development of liver cells, and changes in this gene can contribute to the development of cholangiocarcinoma.
Central variant of the LFS2 gene: The LFS2 gene is located near the EGFR gene, and genetic changes in this region can result in a central variant of LFS2. This condition is associated with an increased risk of developing certain types of cancer, including lung cancer and cholangiocarcinoma.

This information is based on scientific research and data from various databases and resources, including the Online Mendelian Inheritance in Man (OMIM) registry, PubMed articles, and other genetic testing databases. It is important to note that additional health conditions related to genetic changes in the EGFR gene may exist, as research in this field is ongoing.

For more in-depth information on specific health conditions related to genetic changes in the EGFR gene, it is recommended to consult published scientific articles, guidelines, and other reliable resources.

Cholangiocarcinoma

Cholangiocarcinoma is a type of cancer that starts in the cells of the bile ducts. It is a rare and challenging form of cancer that can be difficult to diagnose and treat.

Scientific research has shown that genetic changes play a significant role in the development and growth of cholangiocarcinoma. One of the genes that has been found to be involved is the EGFR gene.

The EGFR gene, also known as the epidermal growth factor receptor gene, is a key gene in the growth and development of cells. Mutations or changes in this gene can lead to uncontrolled cell growth and the formation of cancerous tumors.

Genetic testing can be conducted on the EGFR gene to identify any changes or mutations that may be present. This information can help guide treatment decisions and provide important insights into the genetic health of individuals with cholangiocarcinoma.

There are several databases and resources available for obtaining information on genetic testing for cholangiocarcinoma and other related conditions. PubMed, OMIM, and the Cancer Genome Atlas are just a few of the databases that provide access to scientific articles, guidelines, and genetic variant information.

Genetic testing can be done on a form of cholangiocarcinoma called intrahepatic cholangiocarcinoma, or ICC. This type of cancer is found in the liver cells and is often resistant to traditional cancer treatments. Genetic testing can help identify specific mutations in ICC cells and guide targeted therapies that may be more effective.

It is important to note that changes on the EGFR gene and other genes listed in databases and resources may not always be associated with cholangiocarcinoma. Further research and testing are needed to determine the specific role these genes play in the development and progression of the disease.

In conclusion, cholangiocarcinoma is a challenging cancer that can be influenced by genetic changes. The EGFR gene and other related genes are being studied and tested to better understand this form of cancer. Genetic testing provides important information for treatment decisions and may lead to new targeted therapies that can help patients with cholangiocarcinoma respond better to treatment.

Lung cancer

Lung cancer is a type of cancer that affects the cells in the lungs. It is mainly caused by changes in the EGFR gene, which is short for epidermal growth factor receptor gene. This gene plays a crucial role in the growth and development of cells in the lungs.

When the EGFR gene undergoes certain changes, it can lead to the abnormal growth of cells in the lungs, resulting in lung cancer. These changes in the gene can be inherited or acquired over time due to various factors like smoking, exposure to certain chemicals, and other environmental influences.

The EGFR gene and its related variations have been extensively studied and cataloged in various scientific databases and resources. Central databases like OMIM, PubMed, and others provide information on the genetic variant of EGFR and its relation to lung cancer. These databases also list additional articles and references for further reading and research.

Other Names for This Gene

This gene is also known by the following names:

EGFR gene
ERBB1 gene
ERBB proto-oncogene
avian erythroblastic leukemia viral (v-erb-b2) oncogene homolog
cell growth inhibitory protein 40
epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)
fms-like tyrosine kinase 1
gene related to erbB-1 protein

The EGFR gene is associated with various conditions, including lung cancer, cholangiocarcinoma, and other diseases. It plays a crucial role in cell growth and responds to epidermal growth factor.

Testing for changes in this gene can provide valuable genetic information related to these conditions. Various databases and resources, such as OMIM and the Genetic Testing Registry, catalog scientific articles, guidelines, and additional information on this gene.

Furthermore, the EGFR gene is central to research on lung cancer and related diseases, and various tests and guidelines have been developed to receive variant information from these genes.

Additional Information Resources

For additional information on the EGFR gene, the following resources can provide scientific articles, databases, and guidelines:

Catalog of Somatic Mutations in Cancer (COSMIC) – Provides comprehensive information on genetic changes in various cancers, including lung cancer.
OMIM (Online Mendelian Inheritance in Man) – A registry that catalogs genetic variants and related information on various diseases and conditions.
PubMed – A database of scientific articles that includes studies and research related to the EGFR gene and its role in different diseases.
Cancer Genetic Testing Registry (CGTR) – Provides information on genetic tests available for different types of cancer, including lung cancer.
Guidelines for Molecular Testing of EGFR Mutations – Listed guidelines for testing EGFR mutations in lung cancer cells to determine responsiveness to targeted therapies.

In addition to these resources, it is important to consult other scientific literature, health information websites, and genetic testing laboratories to receive the most up-to-date and relevant information on the EGFR gene.

Tests Listed in the Genetic Testing Registry

The EGFR gene is involved in the growth and formation of cells in the lungs. Mutations in this gene can lead to genetic changes that cause various diseases, including lung cancer. To receive more information about these conditions and genetic testing for EGFR gene variants, you can consult the Genetic Testing Registry (GTR).

The GTR catalog is a central resource that provides access to a variety of genetic tests for various diseases. These tests are listed along with additional resources such as articles from PubMed, guidelines, and information from other scientific databases. The GTR is a comprehensive source of information on genetic testing for EGFR gene-related conditions.

In the GTR, you can find tests for conditions such as lung cancer, central cholangiocarcinoma, and other diseases that respond to EGFR gene changes. The registry provides information on the names of the tests, the genes involved, and the diseases they are associated with.

In addition to the genetic tests listed, the GTR also offers references to scientific articles and resources related to the EGFR gene. These references can provide further information on the nature and effects of EGFR gene mutations.

If you are interested in learning more about genetic testing for EGFR gene variants and the associated diseases, the Genetic Testing Registry is a valuable source of information. It can help you find relevant tests and genetic resources to support your healthcare decisions and provide insights into the understanding of these conditions.

Scientific Articles on PubMed

PubMed is a database that provides a central resource for the scientific community to access information on genes related to health. The EGFR gene is one of the genes listed in this database.

EGFR, or epidermal growth factor receptor, is a gene that plays a central role in the growth and development of cells. Changes in this gene have been associated with various health conditions, including lung cancer and cholangiocarcinoma.

Scientific articles on PubMed provide additional information on the EGFR gene and its variant forms. These articles often include guidelines for testing and guidelines for the use of targeted therapies for certain conditions. The articles also cite references to other related scientific articles.

The PubMed database provides a catalog of scientific articles on the EGFR gene. Users can search for articles based on keywords, genetic databases, or genetic testing resources. The articles are listed in chronological order, with the most recent articles first.

For those interested in further research on the EGFR gene, PubMed offers additional resources such as the Online Mendelian Inheritance in Man (OMIM) database. This database provides more detailed information on the genetic variants of the EGFR gene and their associated health conditions.

In summary, PubMed is a valuable resource for scientific articles on the EGFR gene and its role in health and disease. It provides a comprehensive collection of articles that cover topics such as genetic testing, targeted therapies, and changes in the EGFR gene.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a central resource for genetic information on various diseases and genes. It provides a comprehensive list of genes associated with different genetic conditions and diseases.

The OMIM database, or Online Mendelian Inheritance in Man, contains information on genes and genetic conditions. The catalog includes genes such as the EGFR gene, which is responsible for cell growth and division. Mutations in this gene can lead to the development of cancer, particularly in the lungs.

OMIM provides information on different genetic variants of the EGFR gene and their related diseases. This includes both normal and abnormal variants that have been associated with lung cancer and other related conditions.

The catalog includes references to scientific articles, guidelines, and testing resources related to the EGFR gene. These references can be used to further explore the genetic nature and testing guidelines for diseases associated with the EGFR gene.

Additional resources listed in the catalog include databases like PubMed and the Genetic Testing Registry (GTR), which provide further information on genetic conditions and testing guidelines. This allows researchers and healthcare professionals to receive up-to-date information on genetic testing and the genes associated with various diseases.

For diseases like cholangiocarcinoma, the catalog provides information on the genetic basis of the condition and related genes. It includes information on the nature of the genetic variant, its impact on cell growth, and its relevance to the development of the disease.

Overall, the Catalog of Genes and Diseases from OMIM serves as a valuable resource for researchers, healthcare professionals, and individuals interested in genetic health. It provides a comprehensive list of genes associated with different diseases, along with information on testing guidelines and other scientific articles.

Gene and Variant Databases

There are several databases that provide valuable information about genes and variants related to the EGFR gene. These databases serve as a central resource for researchers and clinicians interested in understanding the genetic basis of diseases, particularly lung cancer.

The National Center for Biotechnology Information (NCBI) provides a comprehensive database called Gene, where researchers can find detailed information about genes, including the EGFR gene. This database contains information about the gene’s structure, function, and expression patterns in different tissues and cells.

The Online Mendelian Inheritance in Man (OMIM) is another valuable resource that provides information on the genetic basis of various diseases. It includes information about the EGFR gene and its related diseases, such as lung cancer and cholangiocarcinoma. OMIM provides guidelines for genetic testing and references to scientific articles related to these diseases.

The Catalog of Somatic Mutations in Cancer (COSMIC) focuses on genetic changes in cancer cells, including those in the EGFR gene. Researchers can access information about different variants identified in cancer patients and their association with the growth and response of cancer cells.

In addition to these databases, PubMed provides a vast collection of scientific articles related to the EGFR gene and its variants. Researchers can find references to articles that discuss the role of EGFR gene changes in various diseases, including lung cancer.

These databases serve as essential resources for researchers and clinicians involved in the study and testing of the EGFR gene and its variants. They provide valuable information, guidelines, and references to aid in understanding the genetic basis of diseases and improving patient health.

References

EGFR gene:

Genetic Testing Registry (GTR) provides information about EGFR gene tests.
PubMed is a scientific database where you can find articles related to EGFR gene.
OMIM is a catalog of human genes and genetic disorders. It provides information on EGFR gene and related diseases.
EGFR gene form the central hub for many additional genes that respond to EGFR signaling in lung cells and other cells.

Lung cancer:

The American Cancer Society provides information and resources on lung cancer.
The National Cancer Institute (NCI) provides information on lung cancer, including tests, treatments, and clinical trials.
PubMed is a scientific database where you can find articles on lung cancer.
The NCCN Guidelines provide evidence-based recommendations for the diagnosis, staging, and treatment of lung cancer.

Epidermal growth factor receptor (EGFR) gene mutations:

PubMed is a scientific database where you can find articles on EGFR gene mutations.
The ClinicalTrials.gov database provides information on clinical trials related to EGFR gene mutations in lung cancer.
EGFR variant form the central hub for many additional genes that respond to EGFR signaling in lung cells and other cells.
The COSMIC database provides information on EGFR gene mutations in various cancers, including lung cancer.

Cholangiocarcinoma:

The American Cancer Society provides information and resources on cholangiocarcinoma.
PubMed is a scientific database where you can find articles on cholangiocarcinoma.
The Cholangiocarcinoma Foundation provides information and support for patients and families affected by cholangiocarcinoma.