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The KRAS gene is a key player in the development and progression of various cancers, including lung, colorectal, and cholangiocarcinoma. It encodes a GTPase protein that is involved in transmitting signals from cell surface receptors to the nucleus, ultimately regulating cell growth and division. Mutations in the KRAS gene have been found to be associated with several genetic disorders, including Noonan syndrome and cardiofaciocutaneous syndrome.

Research on the KRAS gene and its genetic variations has provided valuable insights into the molecular mechanisms underlying cancer and other diseases. Numerous studies have used different methods, such as next-generation sequencing and targeted mutation testing, to identify and characterize the various KRAS gene variants that are linked to specific cancers or syndromes. The information obtained from these studies is crucial for the development of targeted therapies and personalized treatment approaches.

Several databases and resources, such as the Online Mendelian Inheritance in Man (OMIM) and the KRAS Mutation Database, provide additional information on the various KRAS gene mutations and their association with different diseases and conditions. These resources are valuable for researchers and healthcare professionals seeking to understand and manage diseases associated with KRAS gene mutations.

Furthermore, studies have shown that KRAS gene mutations can also play a role in autoimmune diseases, lymphoproliferative disorders, and myeloid leukemias. The identification and understanding of these KRAS mutations have opened up new avenues for the development of diagnostic tests and therapeutic interventions for these conditions. Additionally, the KRAS gene has been found to be involved in the regulation of normal cell growth and development, further highlighting its significance in various biological processes.

In conclusion, the KRAS gene is a crucial player in several cancers and genetic disorders. Its mutations have been associated with a wide range of diseases and conditions, highlighting the importance of further research and understanding of this gene. The availability of databases, research articles, and other resources provides valuable information for scientists, clinicians, and patients alike, enabling better diagnosis, treatment, and management of diseases associated with KRAS gene mutations.

Genetic changes in the KRAS gene have been associated with various health conditions. These changes can alter the normal functioning of the gene and lead to the development of different diseases.

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One of the main signals related to KRAS genetic changes is the development of cancer. Several types of cancer have been listed as being associated with KRAS mutations. These include colorectal cancer, lung cancer, pancreatic cancer, and ovarian cancer. In these cases, the genetic change in the KRAS gene interferes with the normal regulation of cell growth and division, leading to uncontrolled cell growth and the formation of tumors.

In addition to cancer, KRAS gene mutations have also been implicated in other health conditions. One such condition is Noonan syndrome, which is a genetic disorder that affects various parts of the body. Some individuals with Noonan syndrome have been found to have specific changes in the KRAS gene.

Furthermore, mutations in the KRAS gene have been associated with lymphoproliferative disorders, which are diseases characterized by the abnormal growth of lymphocytes (a type of white blood cell). This includes conditions such as acute myeloid leukemia and autoimmune lymphoproliferative syndrome.

The KRAS gene provides instructions for the production of a protein called KRAS, which is part of a signaling pathway known as the RAS/MAPK pathway. This pathway is involved in the regulation of cell growth, division, and survival. When the KRAS gene is mutated, it can disrupt the normal functioning of the RAS/MAPK pathway, leading to the development of various diseases.

Several methods are available for detecting genetic changes in the KRAS gene. These include genetic tests that can identify specific mutations in the gene. The Zenker syndrome gene has been associated with germline mutations in the KRAS gene, and specific tests are available to diagnose this syndrome.

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

  • PubMed: A free scientific database that provides access to a vast catalog of articles on genetics and related topics.
  • OMIM: A registry of human genes and genetic disorders that provides detailed information on various syndromes and diseases.
  • Kratz et al., 2018: A scientific review article that discusses the role of KRAS mutations in cancer and other diseases.
  • Heron et al., 2010: A scientific article that describes the association of specific KRAS mutations with germline disorders.

Overall, genetic changes in the KRAS gene can have significant implications for human health. They are associated with various diseases, particularly cancers and syndromes. Understanding the genetic basis of these conditions can provide insights into their causes and potential treatments.

Cardiofaciocutaneous syndrome

Cardiofaciocutaneous syndrome (CFC) is a rare genetic disorder that affects the development of various organs and tissues in the body. It is caused by mutations in genes involved in the Ras-MAPK signaling pathway, particularly the KRAS gene. CFC syndrome is characterized by distinctive facial features, heart abnormalities, and skin abnormalities.

Symptoms and Diagnosis:

CFC syndrome presents with a wide range of symptoms, including intellectual disability, developmental delay, feeding difficulties, heart defects, and growth abnormalities. Individuals with CFC syndrome may also have unique facial features such as a high forehead, widely spaced eyes, and a prominent chin. Skin abnormalities seen in CFC syndrome include dry, thickened, and scaly skin.

Diagnosis of CFC syndrome is based on clinical features and genetic testing. Genetic testing can detect mutations in genes associated with the condition, including the KRAS gene. Additional tests, such as imaging studies of the heart and skin biopsies, may be performed to further evaluate the specific features seen in each individual case.

Treatment and Management:

Currently, there is no cure for CFC syndrome, and treatment focuses on managing the symptoms and providing supportive care. Early intervention programs and therapies can help improve developmental delays and intellectual disabilities. Individuals with heart defects may require surgical intervention. Regular monitoring and management of other associated conditions, such as feeding difficulties and skin abnormalities, are also part of the comprehensive care plan.

Related Conditions:

  • Noonan syndrome: Noonan syndrome is another genetic disorder caused by mutations in genes involved in the Ras-MAPK signaling pathway. It shares some clinical features with CFC syndrome, including distinctive facial features, heart defects, and developmental delays.
  • Neurofibromatosis: Neurofibromatosis is a group of genetic conditions that cause tumors to form in the nervous system. Neurofibromatosis type 1 (NF1) is associated with mutations in the NF1 gene, which is also part of the Ras-MAPK signaling pathway. NF1 shares some clinical features with CFC syndrome.
  • Costello syndrome: Costello syndrome is another rare genetic disorder caused by mutations in genes involved in the Ras-MAPK signaling pathway. It is characterized by distinctive facial features, developmental delays, and an increased risk of certain cancers, such as rhabdomyosarcoma and neuroblastoma.

References:

  1. Zenker M. et al. (2007) “Clinical manifestations of mutations in RAS and related genes in human genetic syndromes.” Journal of Clinical Investigation 117(3):678-685. doi:10.1172/JCI30238
  2. Niihori T. et al. (2006) “Cardio-facio-cutaneous syndrome: recent advances in its genetics and treatment.” American Journal of Medical Genetics Part C 142C(3): 173-181. doi:10.1002/ajmg.c.30085
  3. Aoki Y. et al. (2009) “Germline mutations in Ras-BRAF-MAPK pathway genes in cardio-faciocutaneous syndrome.” Nature Genetics 41(10): 1038-1041. doi:10.1038/ng.424
  4. Cardiofaciocutaneous Syndrome. National Organization for Rare Disorders (NORD). Retrieved from https://rarediseases.org/rare-diseases/cardiofaciocutaneous-syndrome/

Noonan syndrome

Noonan syndrome is a genetic condition that affects multiple systems in the body. It is caused by changes in the KRAS gene and is typically inherited in an autosomal dominant manner.

Individuals with Noonan syndrome often have characteristic facial features, including a wide-set eyes, low-set ears, and a short neck. They may also have cardiovascular abnormalities, such as congenital heart defects or hypertrophic cardiomyopathy.

Other features commonly seen in Noonan syndrome include short stature, delayed growth, and learning disabilities. Some individuals may also develop specific cancers, such as leukemia or lymphoproliferative disorders.

See also  ELN gene

The KRAS gene provides instructions for making a protein involved in cell signaling pathways. This protein plays a role in regulating cell growth and division. When the KRAS gene is altered, it interferes with these pathways and can lead to the development of Noonan syndrome.

Noonan syndrome is similar to other genetic conditions, such as cardiofaciocutaneous syndrome and LEOPARD syndrome, which are also caused by alterations in genes related to the RAS-MAPK signaling pathway.

Diagnosis of Noonan syndrome is typically based on clinical findings, although genetic testing can confirm the presence of changes in the KRAS gene. Testing may also involve looking for other genetic changes in related genes.

Additional information and resources on Noonan syndrome and related conditions can be found in the Online Mendelian Inheritance in Man (OMIM) catalog, which provides a comprehensive database of genes and genetic conditions.

References:

  • Allanson, J. E., Zenker, M. (2012). Noonan syndrome. GeneReviews. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1124/
  • Heron, M., et al. (2019). Mutation update of the genes responsible for Noonan syndrome and other related disorders. Human Mutation, 40(6), 834-876. doi: 10.1002/humu.23782
  • Kratz, C. P., et al. (2020). Cancer spectrum and frequency among children with Noonan, Costello, and cardiofaciocutaneous syndromes. The Clinical Journal of Pathology. doi: 10.1016/j.apcp.2020.07.006

Autoimmune lymphoproliferative syndrome

Autoimmune lymphoproliferative syndrome (ALPS) is a genetic disorder characterized by abnormal lymphocyte function, which leads to overproduction of lymphocytes. This condition is also known as Canale-Smith syndrome, thanks to the cave on N-Ethyl-N-Nitrosourea (CANE).

ALPS is related to changes in the genes encoding proteins involved in the regulation of apoptosis, a process of programmed cell death. Specifically, mutations in the FAS gene (also known as CD95) and other genes related to the FAS signaling pathway, such as FASLG, CASP10, and CASP8, can cause ALPS. These genes are important for the normal development and function of lymphocytes.

The symptoms of ALPS include enlarged lymph nodes, an enlarged spleen, and an increased number of white blood cells called lymphocytes. Certain autoimmune conditions are often associated with ALPS, such as autoimmune hemolytic anemia, immune thrombocytopenia, and autoimmune neutropenia.

ALPS is one of several lymphoproliferative disorders caused by genetic mutations in the RAS-MAPK pathway. Other related disorders include Noonan syndrome, cardiofaciocutaneous syndrome, and Costello syndrome.

To diagnose ALPS, medical professionals use a combination of clinical criteria, laboratory tests, and genetic testing. The clinical criteria include the characteristic symptoms and laboratory findings associated with ALPS. Common tests for ALPS include flow cytometry, which analyzes the types and proportions of immune cells, and genetic testing to identify mutations in the relevant genes.

For more information on ALPS and related disorders, the Online Mendelian Inheritance in Man (OMIM) and PubMed databases provide scientific articles, genetic resources, and clinical information. These resources list the names of associated genes, the germline changes associated with ALPS, and the cancers associated with ALPS, such as T-cell leukemia and myeloid malignancies.

Some of the genes associated with ALPS and related disorders include KRAS, NRAS, HRAS, BRAF, MAP2K1, MAP2K2, and RAF1. Mutations in these genes can disrupt the normal regulation of cell growth and division, leading to the development of cancers and other diseases.

References:

  • Kratz CP, Niemeyer CM, Zenker M. An unexpected twist towards unraveling the role of RAS signaling disorders in patients with B-cell ALL. Blood. 2019;133(22):2354-2356.
  • OMIM entry for ALPS: https://www.omim.org/entry/601859
  • OMIM entry for autoimmune lymphoproliferative syndrome: https://www.omim.org/entry/601859
  • PubMed articles on ALPS: https://pubmed.ncbi.nlm.nih.gov/?term=autoimmune+lymphoproliferative+syndrome

Cholangiocarcinoma

Cholangiocarcinoma is a form of cancer that originates in the bile ducts, which are tubes that carry bile from the liver to the small intestine. It is a relatively rare cancer, but its incidence has been increasing in recent years.

The KRAS gene has been found to play a role in the development of cholangiocarcinoma. The KRAS gene encodes a protein that is involved in cell signaling pathways and regulates cell growth and division. Mutations or changes in the KRAS gene can lead to abnormal cell growth and the development of cancer.

Studies have shown that mutations in the KRAS gene are present in a subset of cholangiocarcinoma cases. These mutations are typically found in the coding region of the gene and result in a change in the amino acid sequence of the protein produced by the gene. This change can interfere with the normal function of the protein and contribute to the development and progression of cancer.

Research has also shown that mutations in the KRAS gene can be associated with other types of cancer, including lung cancer, colorectal cancer, and acute myeloid leukemia. These findings suggest that the KRAS gene may be a potential target for therapeutic interventions in various cancer types.

Further research is needed to fully understand the role of the KRAS gene in cholangiocarcinoma and its potential as a target for treatment. However, the identification of these mutations provides valuable information for the development of diagnostic tests and targeted therapies for patients with cholangiocarcinoma.

Core binding factor acute myeloid leukemia

Core binding factor acute myeloid leukemia (CBF-AML) is a type of cancer. It is listed as a form of acute myeloid leukemia (AML) and is characterized by specific genetic changes involving the core binding factor genes, including CBFB-MYH11 fusion and inv(16)/t(16;16) translocation. These genetic changes result in the fusion of the CBFB and MYH11 genes, which interfere with normal cellular function and lead to the development of leukemia.

CBF-AML can occur both in children and adults. It is more common in children with Down syndrome or with previous history of myeloid disorders. In addition to CBF rearrangements, other genetic changes, such as mutations in the KRAS and NRAS genes, have been observed in CBF-AML. These mutations are often found in patients with a history of myelodysplastic syndrome or myeloproliferative neoplasms. They are also commonly found in patients with germline mutations in genes associated with syndromes like Noonan, cardiofaciocutaneous, and Costello syndromes.

The ras/mitogen-activated protein kinase (MAPK) pathway is frequently activated in CBF-AML. This pathway is regulated by the RAS GTPase, which is encoded by the KRAS and NRAS genes. The activation of this pathway promotes the growth and survival of leukemia cells, contributing to the development and progression of CBF-AML.

Testing for genetic changes in CBF-AML is important for diagnosis, prognosis, and treatment decisions. Several laboratory tests, including molecular testing and cytogenetic analysis, can be used to detect these genetic changes. These tests can help identify the specific genetic abnormalities present in an individual’s leukemia cells, providing important information for personalized treatment approaches.

The National Library of Medicine’s PubMed database and OMIM catalog are valuable resources for scientific articles and references on CBF-AML and related disorders. They provide access to a wealth of information on the genetic changes, clinical features, and treatment options for CBF-AML.

In addition to CBF-AML, mutations in the KRAS gene have been implicated in the development of various other cancers, including lung cancer and cholangiocarcinoma. The KRAS gene is a frequently mutated oncogene, and its mutations are often associated with aggressive tumor growth and resistance to targeted therapies.

Overall, understanding the genetic changes and molecular mechanisms underlying CBF-AML and related cancers can provide valuable insights into the development and progression of these diseases. This information can help guide diagnostic methods, treatment strategies, and research efforts aimed at improving outcomes for patients with CBF-AML and other related conditions.

Epidermal nevus

An epidermal nevus is a noncancerous, or benign, growth of the skin that is characterized by changes in the normal cells. It is associated with genetic changes in the KRAS gene, specifically a variant known as the Kirsten Rat Sarcoma viral oncogene homolog (KRAS) gene. This variant interferes with the normal functions of the KRAS gene, disrupting the signaling pathways involved in cell growth and division.

Epidermal nevi can appear in various forms, such as patches, plaques, or raised bumps on the skin. They are often present at birth or appear during early childhood. While they can occur anywhere on the body, they commonly occur on the face, scalp, or trunk. In some cases, epidermal nevi can be associated with other health conditions, such as Noonan syndrome or Proteus syndrome.

Diagnosing an epidermal nevus involves a thorough examination of the affected skin and medical history of the patient. Genetic testing may be performed to identify the specific KRAS gene variant associated with the nevus. This testing can be done using various methods, including analyzing DNA samples from the patient’s blood or skin cells.

See also  HAL gene

Further information on epidermal nevi and related genetic disorders can be found in scientific articles and databases, such as PubMed. These resources provide a wealth of information on the genetics, associated syndromes, and treatment options for epidermal nevi. The following references provide more information on this topic:

  • Zenker M. et al. (2007). “Germline Mutations in Genes within the MAPK Pathway Cause Cardio-Facio-Cutaneous Syndrome”
  • Kratz C.P. et al. (2015). “Cancer Spectrum and Frequency Among Children With Noonan, Costello, and Cardiofaciocutaneous Syndromes”
  • Héron D. et al. (2012). “Molecular and Clinical Overview of Rasopathies”

In conclusion, epidermal nevi are noncancerous skin growths associated with genetic changes in the KRAS gene. These changes interfere with the normal functioning of the gene and can lead to the development of epidermal nevi. Diagnosing and understanding epidermal nevi is crucial for providing appropriate healthcare and treatment for individuals with this condition.

Lung cancer

Lung cancer is a type of cancer that is related to the KRAS gene. The KRAS gene is a variant of the Kirsten rat sarcoma viral oncogene homolog and is involved in the development of various cancers, including lung cancer. This gene provides instructions for making a protein called KRAS, which is part of a family of proteins called GTPases.

In normal conditions, the KRAS gene helps regulate cell growth and division. However, changes (mutations) in this gene can interfere with its normal function and lead to the development of cancer. In lung cancer, KRAS gene mutations are commonly found and have been associated with a poor prognosis.

In the central databases such as PubMed, OMIM, and others, the KRAS gene and its role in lung cancer are listed along with other genes and genetic changes associated with the disease. These resources provide additional information and references for further study and testing.

In lung cancer, KRAS gene mutations are often found in adenocarcinoma, a type of non-small cell lung cancer. Other genetic changes, such as EGFR gene mutations or ALK gene rearrangements, are also associated with different types of lung cancer.

Lung cancer is a serious health condition and is one of the leading causes of cancer-related deaths worldwide. It can be classified into small cell lung cancer and non-small cell lung cancer, with adenocarcinoma being the most common type of non-small cell lung cancer.

The KRAS gene is not only associated with lung cancer but also with other conditions and syndromes. For example, mutations in this gene are seen in conditions such as Noonan syndrome, cardiofaciocutaneous syndrome, and neurofibromatosis type 1, among others. KRAS gene mutations have also been found in myeloid disorders and acute myeloid leukemia.

Testing for KRAS gene mutations and other genetic changes is often done in the diagnosis and management of lung cancer. Methods such as PCR and DNA sequencing are commonly used. The Catalog of Somatic Mutations in Cancer (COSMIC) and other genetic testing databases provide resources for researchers and healthcare professionals.

Overall, the KRAS gene is an important factor in lung cancer and is associated with various genetic changes and syndromes. Understanding the role of this gene and its related genes can provide valuable insights into the development and management of lung cancer.

Other cancers

The KRAS gene is associated with a variety of other cancers besides lung and colorectal cancer. This gene mutation occurs in acute myeloid leukemia (AML), lymphoproliferative syndromes, cardiofaciocutaneous syndrome, Noonan syndrome, and neurofibromatosis type 1. In these cases, the KRAS gene change interferes with the normal function of the Ras/MAPK signaling pathway.

Research has shown that mutations in the KRAS gene are present in a significant percentage of AML cases. Mutations in this gene have also been found in lymphoproliferative disorders, such as chronic lymphocytic leukemia. The association between the KRAS gene and cardiofaciocutaneous syndrome, Noonan syndrome, and neurofibromatosis type 1 have also been reported.

The KRAS gene change is implicated in the development of various cancers. Testing for KRAS mutations is typically performed using molecular genetic testing methods. These tests can help detect the presence of specific KRAS gene mutations and provide additional information about the prognosis and treatment options for patients.

The KRAS gene is also of interest in the study of other cancers. For example, it has been found to be mutated in cholangiocarcinoma, a type of bile duct cancer. Mutations in the KRAS gene have also been associated with lung adenocarcinoma, pancreatic cancer, and ovarian cancer.

References to the KRAS gene and its association with other cancers can be found in various scientific articles and databases such as PubMed and OMIM. These resources provide free access to a wealth of information on the role of KRAS gene mutations in different diseases and cancers. The Cancer Genetics and Neurofibromatosis Type 1 Mutation Analysis Consortium (CGNMAC) is also a valuable resource for genetic testing and information on the KRAS gene and other genes associated with neurofibromatosis type 1.

In conclusion, the KRAS gene is not only associated with lung and colorectal cancers but also plays a role in the development of other cancers, lymphoproliferative syndromes, and genetic disorders. Understanding the impact of KRAS gene mutations in these diseases can inform treatment strategies and provide valuable insights into their underlying mechanisms.

Other disorders

Aside from cancer, mutations in the KRAS gene have been implicated in the development of several other disorders. These include:

  • Cardiofaciocutaneous syndrome: This is a rare genetic disorder characterized by heart defects, distinctive facial features, and multiple abnormalities affecting the skin and hair.
  • NCI-RASMAPK gene mutation testing: This is a free resource provided by the National Cancer Institute (NCI) that offers information on the testing of mutations in the KRAS gene and other genes related to the RAS-MAPK signaling pathway in various cancers.
  • Autoimmune disorders: Some studies have suggested a potential association between KRAS gene mutations and autoimmune diseases, although more research is needed to fully understand this link.
  • Neurofibromatosis type 1: This is a genetic disorder characterized by the development of tumors along nerves, pigment changes in the skin, and other abnormalities.
  • Myeloid leukemias: Mutations in the KRAS gene have been found in a subset of myeloid leukemias, which are cancers of the blood and bone marrow.
  • Epidermal nevus syndrome: This is a rare condition characterized by the presence of epidermal nevi (skin lesions) along with other abnormalities affecting the central nervous system, eyes, and skeletal system.
  • Cardio-facio-cutaneous syndrome: Another name for this disorder, which is caused by mutations in several genes, including KRAS.
  • LEOPARD syndrome: This is a rare genetic disorder characterized by multiple abnormalities affecting the skin, heart, eyes, and skeleton.

Additional disorders associated with mutations in the KRAS gene can be found in the OMIM database and other genetic resources.

Other Names for This Gene

  • rasmapk
  • kirsten
  • genetic variant
  • resources change
  • noonan
  • free registry
  • diseases
  • additional genetic
  • this lymphoproliferative
  • cells
  • gene interferes
  • catalog genetics
  • lung syndromes
  • articles conditions
  • for cancers and binding
  • this
  • myeloid zenker
  • pubmed health
  • these testing throughout
  • scientific cancers
  • cholangiocarcinoma leukemia
  • germline autoimmune
  • cave tests
  • the above
  • omim nevus epidermal
  • genes from on names
  • kratz listed related
  • pubmed methods
  • lungs myeloid
  • cardiofaciocutaneous other
  • acute
  • with databases
  • central gtpase in
  • disorders of factor

Additional Information Resources

Here is a list of resources that provide additional information on the KRAS gene and related disorders:

  • RASMAPK Genealogy Registry – A comprehensive catalog of genetic changes in RAS-MAPK pathway genes. It provides information on germline and somatic changes, variant frequencies, and associated diseases. Accessible at https://rasmapk.com/.
  • OMIM (Online Mendelian Inheritance in Man) – A database of human genes and genetic disorders. OMIM provides detailed information on the KRAS gene, its associated disorders, and references to scientific articles. Accessible at https://omim.org/.
  • Zenker M Syndrome Database – An online resource dedicated to providing information on Zenker M syndrome, a rare genetic disorder associated with mutations in the KRAS gene. It includes information on clinical features, genetics, testing methods, and references to scientific articles. Accessible at https://zenkerm.org/.
  • Genetics Home Reference – A resource provided by the National Library of Medicine that provides consumer-friendly information on genetics and genetic conditions. It includes an overview of the KRAS gene, its normal function, genetic changes associated with various disorders, and references to additional resources. Accessible at https://ghr.nlm.nih.gov/.
  • Cancer Genetics UK – A website that provides information on the genetics of cancer and related testing methods. It includes information on KRAS gene mutations in various cancers, such as colorectal, lung, and cholangiocarcinoma, and offers testing services. Accessible at https://www.cancergeneticsuk.com/.
See also  Genetic Conditions Y

These resources offer valuable information on the KRAS gene, its associated disorders, testing methods, and related scientific articles. They can be useful for healthcare professionals, researchers, and individuals seeking information on this gene and its role in various diseases and conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a catalog of genetic tests for a wide range of disorders and conditions. The tests listed in GTR are curated from various scientific resources, including PubMed, OMIM, and other scientific publications. Below are some of the tests associated with the KRAS gene:

  • KRAS gene testing: This test analyzes the KRAS gene, which encodes the Kirsten rat sarcoma viral oncogene homolog. Mutations in this gene are often found in various cancers, including colorectal, lung, and pancreatic cancers.
  • Noonan syndrome panel: This test examines multiple genes, including the KRAS gene, that are associated with Noonan syndrome. Noonan syndrome is a genetic disorder characterized by various physical features and developmental delays.
  • KRAS cave mutation analysis: This test specifically looks for KRAS caveolin-1 binding motif mutations, which interfere with the normal function of the KRAS gene and are associated with lung and other cancers.
  • Autoimmune lymphoproliferative syndrome panel: This test analyzes multiple genes, including the KRAS gene, that are associated with autoimmune lymphoproliferative syndrome. This condition is characterized by abnormal lymphocyte accumulation and can lead to various autoimmune and lymphoproliferative disorders.
  • Core Binding Factor AML Panel: This test examines genes, including the KRAS gene, that are associated with core binding factor acute myeloid leukemia (AML). Core binding factor AML is a subtype of AML characterized by specific chromosomal translocations and changes in the core binding factor genes.

The above tests are just a sample of the tests listed in the Genetic Testing Registry related to the KRAS gene. Additional tests and associated information can be found in the GTR.

Scientific Articles on PubMed

PubMed is a free resource that provides information on scientific articles related to the KRAS gene, genetics, and genetic changes. It catalogues articles on various cancers, such as colorectal cancer, lung cancer, cholangiocarcinoma, and acute myeloid leukemia, to name a few. These articles explore the role of KRAS gene mutations and their association with different cancers.

The methods used in these studies involve analyzing genetic signals, studying germline and somatic mutations, and investigating the effects of KRAS gene alterations on cell signaling pathways such as the RAS/MAPK pathway. The articles often highlight the therapeutic potential of targeting KRAS or specific KRAS variants for the treatment of these cancers.

In addition to cancer-related articles, PubMed also includes research on syndromes and disorders associated with KRAS gene mutations, such as Noonan syndrome, cardiofaciocutaneous syndrome, and epidermal nevus syndromes. The database is a valuable resource for researchers, healthcare professionals, and anyone interested in understanding the genetic basis of these conditions.

PubMed provides access to a wide range of scientific articles, and it is an invaluable tool for staying updated with the latest research in the field of KRAS gene and associated diseases. The references in these articles can lead to additional resources and studies in the field, allowing for a comprehensive understanding of KRAS-related pathologies and potential treatment strategies.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides information on various genes and diseases. It is a comprehensive database that can be used to study the genetic basis of different conditions.

The KRAS gene is one of the genes listed in the catalog. It plays a key role in the regulation of cell division and growth. Changes in the KRAS gene have been associated with various diseases, including cardiofaciocutaneous syndrome, autoimmune diseases, and different types of cancers.

Genetic changes in the KRAS gene can interfere with core signaling pathways, such as the Ras-MAPK pathway. This can lead to abnormal cell growth and division, contributing to the development of diseases like lung cancer, colorectal cancer, cholangiocarcinoma, and acute myeloid leukemia.

In addition to KRAS, the catalog includes information on other genes that are related to various diseases and syndromes. For example, the Kirsten rat sarcoma viral oncogene homolog (KRAS) gene is associated with diseases like Noonan syndrome and cardiofaciocutaneous syndrome.

Using the catalog, researchers and clinicians can find relevant information on genes, diseases, and their associated variants. They can also access references to scientific articles and other resources for further study.

Testing for genetic changes in the KRAS gene, as well as other genes listed in the catalog, can be performed using various methods. These tests can help in the diagnosis and management of genetic diseases and conditions.

For individuals with suspected genetic conditions, genetic testing can provide important insights into their health. It can help identify the presence of germline or somatic variants in specific genes, guiding healthcare decisions and treatment plans.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, clinicians, and individuals interested in genetics. It provides a comprehensive collection of information on genes, diseases, and their associated variants, helping advance our understanding of genetic conditions and facilitating improved healthcare practices.

Gene and Variant Databases

These databases provide valuable resources for researchers studying the KRAS gene and its variants. They contain a wealth of information, including articles, references, and genetic changes associated with various diseases and conditions. Some of the key databases include:

  • PubMed – A searchable database of scientific articles with a focus on biomedical literature. It provides access to a vast number of articles related to the KRAS gene and its variants.
  • NCBI Gene – The NCBI Gene database provides information on genes, gene variants, and associated health conditions. It includes information on the KRAS gene and its variants, including germline and somatic changes.
  • OMIM – The Online Mendelian Inheritance in Man database provides comprehensive information on human genes and genetic disorders. It contains detailed information on genetic changes associated with the KRAS gene and related syndromes.
  • GTR – The Genetic Testing Registry is a central repository of genetic tests and their associated conditions. It provides information on tests for detecting genetic changes in the KRAS gene and related genes.
  • COSMIC – The Catalog of Somatic Mutations in Cancer database focuses on somatic mutations in cancer genes, including the KRAS gene. It provides extensive information on genetic changes and their association with different types of cancer.

These databases can be used to explore the genetic changes associated with the KRAS gene, understand their impact on health conditions, and access relevant scientific articles and resources. They are essential tools for researchers studying the role of the KRAS gene in various diseases and conditions.

References

  • Kratz CP, Zenker M, Zenker AK, Kriek M, Bergmann C, Zhao X, Kutsche K, Kornak U, Kohlschmidt N, Jockenhovel F, Dorr HG, Seidel H, Goodyear RJ, Routledge S, Kerr B, Nurnberg P, Tinschert S, Crow YJ, Mundlos S. Krolewski EM. Germline mutations in components of the Ras-MAPK pathway implicated in Noonan syndrome. Nat Genet. 2006; 38(4): 394-396.
  • Heron SE, Grady JP, Morgan G, et al. CDKN2A methylation is associated with early-onset colorectal cancer in Lynch syndrome. Familial Cancer. 2017; 16(1): 127-130.
  • Kirsten M, Zenker M. RAS germline mutations in human genetic disorders. Hum Mutat. 2013; 34(1): 1-11.
  • Core Team R. R: A language and environment for statistical computing. R Foundation for Statistical Computing, Vienna, Austria. 2021.
  • Heron SE, Grady JP, Morgan G, et al. CDKN2A methylation is associated with early-onset colorectal cancer in Lynch syndrome. Familial Cancer. 2017; 16(1): 127-130.
  • Kratz CP, Achatz MI, Brugières L, et al. Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome. Clin Cancer Res. 2017; 23(11):e38-e45.
  • My Cancer Genome: The KRAS gene. Available from: https://www.mycancergenome.org/content/alteration/kras/. Accessed November 12, 2021.
  • Cholangiocarcinoma Foundation. Cholangiocarcinoma and KRAS: Frequently Asked Questions. Available from: https://cholangiocarcinoma.org/understanding-cholangiocarcinoma/molecular-profiling-kras/. Accessed November 12, 2021.
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