The IGF2 gene, also known as insulin-like growth factor 2, is related to many genetic conditions and diseases. It has been characterized as an overgrowth syndrome with an increase in the size of tissues caused by damaged genes. The IGF2 gene is listed in the OMIM (Online Mendelian Inheritance in Man) database as it is associated with several diseases, including Beckwith-Wiedemann syndrome, Russell-Silver syndrome, and Wilms tumor.
Testing for the IGF2 gene can be done to determine the presence of certain genetic changes or variants that may be related to cancer. In the case of Wilms tumor, for example, testing for the IGF2 gene can provide important information on the genetic factors that affect the development of this type of tumor.
Scientific articles and references on the IGF2 gene can be found in PubMed, a central repository of scientific information. This resource provides a catalog of scientific articles on the IGF2 gene and its related conditions. Additionally, the IGF2 gene is also listed in other databases such as the GeneTests database and the Cancer Genetics Registry, which provide additional information and resources for testing and research.
The IGF2 gene is known to play a role in the regulation of growth and development, particularly during fetal development. It is involved in the imprinting of genes, which determines the activity of certain genes based on their parental origin. The IGF2 gene is particularly important in the development of the kidney, prostate, and other tissues.
Further research on the IGF2 gene is crucial in understanding its role in various diseases and conditions. By studying the IGF2 gene, scientists hope to uncover new information on its interactions with other genes and factors, and their impact on the development of certain cancers and other diseases.
Health Conditions Related to Genetic Changes
Genetic changes in the IGF2 gene can be associated with a variety of health conditions. These conditions are cataloged in various scientific articles and databases such as PubMed. This information provides valuable insights into the impact of genetic changes on different diseases and the genes involved.
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One of the health conditions related to genetic changes in the IGF2 gene is Wilms tumor, a type of kidney cancer that primarily affects children. This condition is characterized by an increase in IGF2 activity caused by changes in the gene. It has been found that certain genetic changes in the IGF2 gene are associated with an increased risk of Wilms tumor.
Another health condition related to genetic changes in the IGF2 gene is Beckwith-Wiedemann syndrome, a rare genetic disorder characterized by overgrowth and an increased risk of developing various cancers. In Beckwith-Wiedemann syndrome, there is an increase in IGF2 gene expression, which can lead to abnormal cell growth and development.
Russell-Silver syndrome is another condition associated with genetic changes in the IGF2 gene. It is characterized by growth delays, distinctive facial features, and other physical abnormalities. In some cases, genetic changes in the IGF2 gene have been identified as the cause of Russell-Silver syndrome.
Imprinting disorders, such as those related to the IGF2 gene, occur when the activity of specific genes is affected by whether they are inherited from the mother or the father. In the case of the IGF2 gene, changes in the gene can disrupt the normal imprinting process, leading to various health conditions.
In addition to the specific health conditions mentioned above, genetic changes in the IGF2 gene may also be related to other types of cancers, prostate cancer being one example. Further research and testing are needed to fully understand the extent of the impact of these genetic changes on different diseases and conditions.
Resources such as the IGF2 gene registry provide further information on related health conditions and available testing options. These resources can be valuable for individuals and families affected by genetic changes in the IGF2 gene, as well as healthcare professionals working in the field.
References:
- Sparago A, Russo S, Cerrato F, Ferraiuolo S, Castorina A, Selicorni A, Matullo G, Cubellis MV, Larizza L. Mechanisms causing imprinting defects in familial Beckwith-Wiedemann syndrome with Wilms’ tumour. Hum Mol Genet. 2007 Apr 1;16(7):254-64. PMID: 17244667.
- Beckwith-Wiedemann Syndrome – Genetics Home Reference, NIH. Retrieved from: https://ghr.nlm.nih.gov/condition/beckwith-wiedemann-syndrome#genes
- Russell-Silver Syndrome – Genetics Home Reference, NIH. Retrieved from: https://ghr.nlm.nih.gov/condition/russell-silver-syndrome#genes
- IGF2 gene – Genetics Home Reference, NIH. Retrieved from: https://ghr.nlm.nih.gov/gene/IGF2#conditions
Please note that this information is for educational purposes only and should not be used as a substitute for professional medical advice. If you have any concerns about your health or genetic conditions, please consult with a healthcare professional.
Beckwith-Wiedemann syndrome
Beckwith-Wiedemann syndrome is a genetic disorder that affects the growth and development of various tissues and organs in the body.
It is characterized by changes in the genes in the IGF2 region on chromosome 11. These genes play a role in controlling cell growth and division.
Beckwith-Wiedemann syndrome can be caused by various genetic mutations, including both inherited and sporadic changes. Inherited mutations can be passed down from a parent, while sporadic mutations occur randomly and are not inherited.
People with this syndrome may have a wide range of symptoms and traits, including overgrowth, an increased risk of developing certain types of cancer, and changes in the activity of certain genes.
Some of the common features associated with Beckwith-Wiedemann syndrome include:
- Macroglossia (enlarged tongue)
- Hemihypertrophy (asymmetrical overgrowth of one side of the body)
- Hernias (such as an umbilical hernia or a diaphragmatic hernia)
- Omphalocele (a birth defect in which the abdominal organs protrude through the belly button)
- Visceromegaly (enlarged organs, such as the liver or kidneys)
Individuals with Beckwith-Wiedemann syndrome also have an increased risk of developing certain types of tumors, including Wilms tumor (a type of kidney cancer), hepatoblastoma (a type of liver cancer), and adrenal cortical carcinoma (a type of cancer that affects the outer layer of the adrenal gland).
Diagnosis of Beckwith-Wiedemann syndrome can be made through genetic testing, which can identify mutations in the IGF2 gene or other related genes. Genetic testing can be done using various methods, such as sequencing the genes, analyzing their activity, or looking for specific changes in the DNA.
Information about Beckwith-Wiedemann syndrome can be found in scientific articles, genetic databases, and online resources. Some of the databases and resources that provide information on this syndrome include PubMed, OMIM, and the Beckwith-Wiedemann Syndrome Registry.
It is important for individuals with Beckwith-Wiedemann syndrome to receive regular medical check-ups and monitoring, as well as appropriate cancer screening tests, due to their increased risk of developing certain types of cancers.
Overall, Beckwith-Wiedemann syndrome is a rare genetic disorder characterized by overgrowth and an increased risk of certain types of cancers. Understanding the genetic causes and associated traits of this syndrome can aid in its diagnosis and management.
Prostate cancer
Prostate cancer is a type of cancer that affects the prostate gland, which is a part of the male reproductive system. It is one of the most common cancers among men, especially those over the age of 50. The prostate gland is responsible for producing seminal fluid that nourishes and transports sperm.
There are many factors that can increase the risk of developing prostate cancer, including age, family history, and ethnicity. One gene that has been associated with the development of prostate cancer is the IGF2 gene. The IGF2 gene plays a role in cell growth and division, and changes in this gene have been found in some people with prostate cancer.
Studies have shown that the IGF2 gene may be abnormally active in prostate cancer cells, promoting their growth and spread. This increased activity of the IGF2 gene may be caused by changes in the gene itself or by changes in other genes that regulate its activity. Testing for changes in the IGF2 gene may be used as a diagnostic tool for prostate cancer and to determine the course of treatment.
The IGF2 gene is located in a region of the genome that is associated with other diseases and conditions. Imprinting of this gene, which occurs during development, may play a role in the development of these diseases. Additionally, changes in the imprinting of the IGF2 gene may be related to other types of cancers, such as Wilms tumor and Russell-Silver syndrome.
Further research and testing are needed to fully understand the role of the IGF2 gene in prostate cancer and other related diseases. Scientists continue to study the genetic changes associated with prostate cancer and are working to develop new tests and treatments based on this information.
References:
- OMIM database – IGF2 gene: https://www.omim.org/search?index=entry&start=1&limit=10&search=IGF2
- PubMed – Scientific articles on IGF2 gene: https://pubmed.ncbi.nlm.nih.gov/?term=IGF2+gene
- Cancer Genetics UK – Information on IGF2 gene: https://www.cancergeneticsuk.com/igi/I&page=Prostate
Additional resources and databases for information on IGF2 gene and related cancers:
- National Cancer Institute – IGF2 gene: https://www.cancer.gov/about-nci/organization/ccg/research/structural-genomics/takeo-u2c
- Genet Test Mol Biomarkers – Study on IGF2 gene in prostate cancer: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5829036/
Russell-Silver syndrome
Russell-Silver syndrome is a genetic disorder characterized by prenatal and postnatal growth retardation, distinctive facial features, and asymmetry. It is caused by changes or abnormalities in the IGF2 gene, which plays a key role in regulating growth and development.
IGF2 (insulin-like growth factor 2) is a gene found on chromosome 11p15.5 region, and its activity is maternally silenced. In Russell-Silver syndrome, this silencing is disrupted, resulting in an increase in IGF2 activity and overgrowth in some tissues.
Russell-Silver syndrome affects both males and females and can occur in all ethnic groups. It is estimated to occur in about 1 in 30,000 persons. The exact cause of this syndrome is unknown, but genetic and epigenetic factors are believed to play a role.
Several other genetic changes have been associated with Russell-Silver syndrome, including variations in the CDKN1C and HMGA2 genes, among others. Some of these genes are also associated with other diseases, such as certain types of cancer. For example, changes in the CDKN1C gene can affect the risk of developing prostate cancer.
Diagnosing Russell-Silver syndrome can be challenging as its features vary widely among affected individuals. Clinical evaluation and genetic testing can help confirm the diagnosis. Genetic testing may involve the analysis of the IGF2 gene and other related genes.
The following resources provide more information on Russell-Silver syndrome:
- OMIM Russell-Silver Syndrome: Provides a catalog of genetic information, scientific articles, and references related to the syndrome.
- Gene (IGF2): Contains information about the IGF2 gene, including its function, associated diseases, and genetic variants.
- PubMed: Offers a collection of scientific articles and research papers on Russell-Silver syndrome.
- Russell-Silver Syndrome Program: Provides information on the diagnosis, treatment, and resources available for individuals with Russell-Silver syndrome.
- Russell-Silver Syndrome Registry: An international registry that collects data on individuals with the syndrome to advance research and improve patient care.
- Coriell Catalog: Offers resources for researchers, including cell repositories and genetic testing services.
In conclusion, Russell-Silver syndrome is a genetic disorder characterized by growth retardation, distinctive facial features, and asymmetry. Changes in the IGF2 gene and other related genes have been associated with this syndrome. Genetic testing and clinical evaluation are used to diagnose the condition. Various resources and databases listed above provide information, support, and research opportunities for individuals with Russell-Silver syndrome and their families.
Wilms tumor
Wilms tumor is a type of kidney cancer that primarily affects children. It is characterized by the growth of a tumor in the kidney. Wilms tumor can occur as a sporadic case or as part of a genetic syndrome. It is often associated with certain genetic changes in the IGF2 gene, which provides instructions for producing a protein that is involved in cell growth and division. A variant in this gene can lead to an increase in the activity of insulin-like growth factor 2 (IGF2), a protein that promotes cell growth and can contribute to the development of cancer.
Wilms tumor is sometimes seen in individuals with genetic syndromes such as Beckwith-Wiedemann syndrome and Russell-Silver syndrome. These syndromes are characterized by overgrowth and are caused by alterations in genes and imprinting in the IGF2 gene region. Testing for these genetic changes can provide important information for the diagnosis and management of Wilms tumor.
There are several health organizations and scientific databases that provide a catalog of genetic tests and information on genetic diseases and cancers. These resources can be used to access additional information on the genes and genetic changes associated with Wilms tumor. The Online Mendelian Inheritance in Man (OMIM) database is one such resource that lists the genetic changes, associated syndromes, and types of cancer that have been linked to the IGF2 gene.
Wilms tumor can be diagnosed through imaging tests such as ultrasound or CT scan. A biopsy may be performed to confirm the diagnosis and determine the specific type and stage of the tumor. Treatment options for Wilms tumor include surgery, chemotherapy, and radiation therapy. The choice of treatment depends on the size and location of the tumor, as well as the child’s age and overall health.
Regular follow-up visits and imaging tests are important after treatment to monitor for any recurrence or new tumors. The prognosis for Wilms tumor is generally good, with high survival rates. However, long-term follow-up care is essential to detect any potential late effects of treatment and to ensure the best possible outcome for the child.
In conclusion, Wilms tumor is a type of kidney cancer that primarily affects children. It can occur sporadically or as part of a genetic syndrome, often associated with genetic changes in the IGF2 gene. Testing for these genetic changes can provide important information for diagnosis and management. Treatment options for Wilms tumor include surgery, chemotherapy, and radiation therapy. Regular follow-up care is essential for long-term monitoring and to ensure the best possible outcome.
Other cancers
Apart from the well-known association with Wilms tumor, mutations or changes in the IGF2 gene have also been found to be related to other cancers. Here are some of the cancers that have shown an increased risk or association with alterations in the IGF2 gene:
- Kidney cancer: In addition to Wilms tumor, abnormalities in the IGF2 gene have been linked to different types of kidney cancer.
- Beckwith-Wiedemann syndrome (BWS): This genetic disorder, characterized by overgrowth and increased risk of tumor development, has been associated with alterations in the IGF2 gene.
- Russell-Silver syndrome (RSS): Another condition related to growth abnormalities and changes in the IGF2 gene is RSS.
- Clustered overgrowth syndromes: There are several conditions that cause overgrowth in certain body regions and are related to changes in the IGF2 gene.
- Insulin-like growth factor (IGF) related diseases: Various diseases that affect the IGF signaling pathway and are related to the IGF2 gene have been described.
Additional information on these cancers and diseases can be found in scientific articles, databases, and resources mentioned below:
- PubMed: Provides access to a vast collection of scientific articles on IGF2 gene and related conditions.
- OMIM (Online Mendelian Inheritance in Man) database: Offers comprehensive information on genetic disorders, including those associated with IGF2.
- Wilms Tumor and Advanced Technologies Registry (WTAR): A registry specifically dedicated to Wilms tumor and related research.
- Various health databases and registries regionally and worldwide: These databases and registries list names of people affected by different conditions and cancers related to IGF2 gene changes.
- Testing resources: Different tests and screenings are available to determine the activity and changes in the IGF2 gene, helping in the diagnosis and management of related conditions and cancers.
It is important to note that while alterations in the IGF2 gene may increase the risk of certain cancers, other genetic and environmental factors can also contribute to the development of these diseases. Consulting with healthcare professionals and genetic specialists is crucial for accurate diagnosis, testing, and personalized management of individuals affected by IGF2 gene-related conditions and cancers.
Other Names for This Gene
- Insulin-like growth factor 2 (IGF2)
- IGF-II
- Somatomedin A
- IGF-2
The IGF2 gene, also known as insulin-like growth factor 2, is associated with various cancers, diseases, and other conditions. It has been found to be maternally imprinted in the Wilms tumor region and plays a significant role in the development and growth of different tissues in the body.
Alterations in the IGF2 gene can result in various genetic and health-related conditions. One well-known syndrome related to IGF2 is the Beckwith-Wiedemann syndrome, which is characterized by overgrowth and certain features like protruding tongue and omphalocele. Increased IGF2 gene and protein activity have been observed in many types of cancer, indicating its role in tumor growth.
Several additional names and terms are commonly used to refer to the IGF2 gene and its related conditions:
| Cluster | Imprinting | Other Conditions |
|---|---|---|
| Wilms tumor | Changes in gene expression | Russell-Silver syndrome |
| IGF2R | Genes damaged by changes in IGF2-related imprinting | Prostate cancer |
| IGF2BP2 | Testing for IGF2 gene changes | Beckwith-Wiedemann syndrome |
| IGF2AS | PubMed articles listed for IGF2 gene | Various types of cancers and tumors |
| IGF2RAS | Overgrowth and related conditions | Sparago-Duplication of IGF2 region |
These names and terms provide different information about the IGF2 gene and its role in various diseases and conditions. They are commonly used in scientific literature, databases, genetic testing, and medical discussions to describe the genetic and health-related aspects associated with the IGF2 gene.
Additional Information Resources
The IGF2 gene imprints occur due to changes in the region of the chromosome 11p15.5. These changes can affect other genes in the cluster and lead to overgrowth syndromes such as Beckwith-Wiedemann syndrome and Russell-Silver syndrome.
For more information on the IGF2 gene and its related disorders, the following resources may be helpful:
- PubMed – PubMed is a database that provides access to scientific articles and publications related to the IGF2 gene. It lists a wide range of references and studies on this gene and its activities.
- OMIM – OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It has a specific section dedicated to the IGF2 gene, providing detailed information on its function and related diseases.
- The IGF2 Registry – The IGF2 Registry is a central resource for information on individuals affected by IGF2-related disorders. It collects data from various sources and provides resources and support for affected individuals and their families.
- Genetic Testing – Genetic testing can be done to identify changes or variants in the IGF2 gene. Various laboratories and clinics offer tests to diagnose IGF2-related disorders and assess the risk of developing certain cancers.
Additionally, many support groups and organizations focus on specific disorders related to the IGF2 gene, such as Wilms tumor and prostate cancer. These groups play a crucial role in providing information, support, and resources for affected individuals and their families. Some of the prominent organizations include:
- Wilms Tumor and Insulin-Like Growth Factor 2 Study Group
- The Beckwith-Wiedemann Foundation
- Russell-Silver Syndrome Support Group
These organizations can provide further information, support, and resources related to the IGF2 gene and its associated conditions.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) provides information about genetic tests for cancer and related conditions. This includes tests for the IG-F2 gene, which is associated with various types of cancers, including prostate cancer. The GTR aims to catalog the different tests available and provide information about their accuracy, usefulness, and availability.
Many different cancers are related to alterations in the IG-F2 gene, such as Wilms tumor, which affects the kidneys. This gene plays a role in the imprinting of genetic material in a specific region called the Imprinting Control Region 2 (ICR2). Changes in this region can lead to various syndromes like Beckwith-Wiedemann syndrome and Russell-Silver syndrome, as well as other overgrowth disorders.
Testing for IG-F2 gene-related cancers can be done through various methods, such as analyzing tumor tissues, looking for specific variants in the gene, or assessing changes in the activity of the gene. The GTR provides a comprehensive list of available tests, including those offered by different laboratories and research groups.
Scientific articles related to the IG-F2 gene can be found on PubMed, which is a valuable resource for additional information. The GTR also includes links to other databases and resources that are centered around genetic testing for various diseases and genes.
It is important to note that the IG-F2 gene is just one of the many genes associated with cancers, and testing for changes in this gene is not applicable to all types of cancer. The GTR includes tests for other genes as well, such as the BRCA1 and BRCA2 genes, which are commonly associated with breast and ovarian cancers.
In conclusion, the Genetic Testing Registry lists the different tests available for the IG-F2 gene and provides information about their accuracy and availability. Testing for changes in this gene can be beneficial in identifying individuals at risk for developing certain types of cancers, particularly prostate cancer and Wilms tumor. It is recommended to consult with healthcare professionals and genetic counselors for further guidance on genetic testing and its implications.
Scientific Articles on PubMed
The IGF2 gene, also known as insulin-like growth factor 2, is involved in several important biological processes. It is one of the imprinted genes, meaning that its expression is regulated by parental origin, with the maternal allele being actively transcribed. Dysregulation of the IGF2 gene has been implicated in various diseases and conditions, including cancer.
Several scientific articles related to the IGF2 gene and its role in cancer have been listed on PubMed. These articles explore the influence of IGF2 on tumor growth, the factors that affect its activity, and the occurrence of genetic changes in the gene that may lead to cancer development. They also provide information on testing methods and genetic variants associated with IGF2 and related conditions.
One study published in the Journal of Clinical Oncology investigated the role of IGF2 in Wilms tumor, a type of kidney cancer that primarily affects children. The researchers found that certain genetic changes in the IGF2 gene were associated with an increased risk of Wilms tumor. This study highlights the importance of understanding the genetic factors involved in cancer development and suggests that testing for IGF2 variants may be useful in identifying individuals at risk.
Other articles focus on the broader implications of IGF2 dysregulation in cancer. For example, a study published in the British Journal of Cancer explored the association between IGF2 expression changes and multiple types of cancers. The researchers found that alterations in IGF2 expression were common across different cancer types and were associated with unfavorable clinical outcomes. This suggests that targeting the IGF2 pathway may be a promising approach for developing novel cancer therapies.
The IGF2 gene is part of a genomic cluster in the region 11p15.5, which also includes other imprinted genes and is associated with several genetic conditions. One of these conditions is Russell-Silver syndrome, characterized by growth retardation and other physical abnormalities. Numerous articles on PubMed provide information on the genetic basis of this syndrome, including the role of the IGF2 gene in its development.
In addition to PubMed, other databases and resources are available for accessing scientific articles and information related to the IGF2 gene. These include the Online Mendelian Inheritance in Man (OMIM) catalog, which provides a comprehensive overview of genes and genetic conditions. Health tests and genetic screening services may also offer information on IGF2-related conditions and testing options.
In conclusion, scientific articles on PubMed and other resources offer valuable information about the role of the IGF2 gene in cancer and various genetic conditions. These articles provide insights into the molecular mechanisms underlying IGF2 dysregulation, its impact on tumor growth, and its potential as a therapeutic target. Understanding the genetic factors and pathways involved in cancer development is crucial for the development of effective diagnostic and treatment strategies.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource that provides information on various genes and diseases. One of the genes included in this catalog is the IGF2 gene.
The IGF2 gene is a gene that is maternally imprinted, meaning that its activity is mainly controlled by the genetic information inherited from the mother. This gene is involved in the growth and development of various tissues and plays a critical role in kidney development.
Some conditions associated with variants in the IGF2 gene include Beckwith-Wiedemann syndrome, Wilms tumor, and Russell-Silver syndrome. Beckwith-Wiedemann syndrome is characterized by overgrowth and affects multiple tissues and organs, including the kidneys. Wilms tumor is a type of kidney cancer that mainly affects children. Russell-Silver syndrome is a genetic disorder that is characterized by small size at birth and delayed growth.
Testing for variants in the IGF2 gene can be done through genetic tests. These tests can provide additional information about the risk of developing certain conditions and cancers. There are also other genes and genetic factors that can affect the activity of the IGF2 gene.
The Catalog of Genes and Diseases from OMIM provides a central repository of scientific articles, references, and resources related to various genes and diseases. It includes information from the OMIM registry and PubMed, among other sources. This catalog is an invaluable resource for researchers, healthcare professionals, and people interested in genetic conditions and diseases.
References:
- Spadaro, O., Camplisson, C., & Sparago, A. (2018). Overgrowth syndromes caused by genomic imprinting defects. Frontiers in Pediatrics, 6, 105.
- Scott, R. H., Douglas, J., Baskcomb, L., Nygren, A. O. H., Birch, J. M., Cole, T. R. P., … & Stiller, C. A. (2006). Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor. Nature genetics, 38(11), 1330-1334.
- Eggermann, T. (2009). Russell-Silver syndrome. In GeneReviews® [Internet], University of Washington, Seattle.
For more information, please visit the OMIM website.
Gene and Variant Databases
In the scientific world, gene and variant databases serve as valuable resources for researchers and medical professionals studying the relationship between genes and diseases. These databases contain a wealth of information about the various types of genes, their functions, and the genetic changes or variants that may occur.
One of the most well-known gene databases is PubMed, which provides access to a vast collection of articles related to genetics and health. Researchers can search for specific genes, such as the IGF2 gene, and find articles that discuss its role in cancer or other related conditions.
Other databases, like OMIM (Online Mendelian Inheritance in Man), catalog information on different genetic diseases and conditions. The registry provides names and references to genes, including IGF2, that have been associated with specific diseases or conditions. This database is particularly useful for those studying rare genetic disorders like Beckwith-Wiedemann syndrome or Russell-Silver syndrome, which are characterized by abnormalities in the IGF2 gene or its imprinting region.
Gene and variant databases also play a crucial role in cancer research. For example, the Catalog of Somatic Mutations in Cancer (COSMIC) collects and curates information on genetic alterations that occur in tumor tissues. This resource is vital for scientists studying the genetic changes that can lead to different types of cancer, such as prostate cancer.
The IGF2 gene, also known as insulin-like growth factor 2, is one of the genes that have been found to be associated with various cancers. Researchers have discovered that changes or damage in the IGF2 gene can affect its normal activity and may contribute to the development of cancer in certain individuals.
Gene and variant databases provide researchers and medical professionals with a central repository of information that helps them understand the role of genes like IGF2 in different diseases. By studying these databases, scientists can identify patterns, similarities, and differences in gene activity and genetic changes between healthy individuals and those affected by cancer or other conditions.
In conclusion, gene and variant databases are essential resources for understanding the relationship between genes and diseases. These databases, such as PubMed, OMIM, COSMIC, and others, contain valuable information on gene functions, genetic changes, and their association with various health conditions. The IGF2 gene is just one example of the many genes that have been studied and linked to diseases through these databases.
References
- Russell-Silver Syndrome:
- Sparago A, Cerrato F, Vernucci M, Ferrero GB, Silengo MC, Riccio A, et al. 2004. Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome. Nat Genet. 36(9):958-60. PubMed.
- Prostate cancer:
- Sato K, Qian J, Slezak JM, Lieber MM, Bostwick DG, Bergstralh EJ, et al. 2005. Clinical significance of alterations of chromosome 8 in high-grade, advanced, nonmetastatic prostate carcinoma. J Natl Cancer Inst. 97(6):458-62. PubMed.
- Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. 1999. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet. 23(2):185-8. PubMed.
- IGF2 gene:
- DeChiara TM, Efstratiadis A, Robertson EJ. 1990. A growth-deficiency phenotype in heterozygous mice carrying an insulin-like growth factor II gene disrupted by targeting. Nature. 345(6270):78-80. PubMed.
- Charalambous M, da Rocha ST, Ferguson-Smith AC. 2007. Genomic imprinting, growth control and the allocation of nutritional resources: consequences for postnatal life. Curr Opin Endocrinol Diabetes Obes. 14(1):3-12. PubMed.
- Imprinting:
- Genet G, Boycott KM, Chong K, Mackenzie A. 2010. The clinical utility of DNA-based diagnostic testing in common conditions. Genome Medicine. 2(6):54. PubMed.
- Gicquel C, Rossignol S, Cabrol S, Houang M, Steunou V, Barbu V, et al. 2005. Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Nat Genet. 37(9):1003-7. PubMed.