The AMER1 gene, also known as AXIN2, is a tumor suppressor gene that is related to the development of various cancers, including colorectal cancer. Mutations in this gene are associated with a number of genetic conditions, including familial adenomatous polyposis and Wilms tumor. The AMER1 gene plays a crucial role in the Wnt signaling pathway, which is important for the development and function of cells.

Changes in the AMER1 gene can lead to skeletal disorders such as osteoporosis, as well as other developmental diseases. This gene is listed in various genetic databases and resources, including OMIM and the Genetic Testing Registry, which provide additional information on the gene and its associated conditions.

Scientific research has shown that mutations in the AMER1 gene occur in a variety of cancers, helping researchers to better understand the underlying causes of these diseases. For example, a study conducted by Zhang and colleagues from the University of Washington in Seattle found that alterations in the AMER1 gene are present in a significant percentage of colorectal cancers.

In addition to colorectal cancer, alterations in the AMER1 gene have also been linked to other types of cancers, including Wilms tumor. This information can be helpful for genetic testing and counseling, as well as for the development of targeted therapies for these cancers. Various resources and references, such as PubMed, provide access to scientific articles and studies on the AMER1 gene and its role in cancer development.

Health Conditions Related to Genetic Changes

Genetic changes can have significant impacts on an individual’s health. Scientists have identified various health conditions that can arise as a result of genetic changes. These changes can occur in specific genes, affecting their function and leading to the development of certain disorders and diseases.

One such gene that has been extensively studied is the AMER1 gene. AMER1 gene changes have been associated with a variety of health conditions, including skeletal disorders and certain types of cancers.

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A study published in the scientific journal Skeleton Development cataloged the genetic changes in the AMER1 gene. The study found that alterations in this gene can lead to skeletal abnormalities, such as Wilms tumor and colorectal cancer.

Other scientific publications listed on PubMed have also investigated the role of AMER1 gene changes in the development of different diseases and disorders. Zhang et al. (2019) found that AMER1 gene changes are associated with the recruitment of beta-catenin, a key player in the Wnt signaling pathway. This recruitment can contribute to the development of certain cancers.

To better understand the health conditions related to AMER1 gene changes, researchers have conducted extensive testing and analysis. Through these tests, specific genetic variants have been identified, which are associated with different diseases and conditions.

Various databases and resources provide additional information on the health conditions related to AMER1 gene changes. OMIM is one such database that offers comprehensive information on the genes and associated diseases. The Seattle Cancer Genetics Program is another resource that provides resources for testing and information on genetic changes related to cancers.

By studying the AMER1 gene and its related health conditions, scientists aim to uncover potential treatment options and develop targeted therapies that can help individuals with these disorders. The knowledge gained from these scientific studies and resources can contribute to better understanding the genetic basis of diseases and improve patient care.

Wilms tumor

Wilms tumor is a rare type of kidney cancer that mainly affects children. It is named after Dr. Max Wilms, a German surgeon who first described the condition in 1899. Wilms tumor is also known as nephroblastoma.

Wilms tumor is often diagnosed in the early years of life, usually between the ages of 2 and 5. It is the most common type of kidney cancer in children and can occur in one or both kidneys.

The exact cause of Wilms tumor is unknown, but genetic changes appear to play a role in its development. Mutations in the AMER1 gene, also known as WTX, have been associated with the development of Wilms tumor. The AMER1 gene is involved in the Wnt signaling pathway, which regulates cell growth and development.

There are several resources available for genetic testing and information related to Wilms tumor. The OMIM database provides a catalog of genes and genetic disorders, including Wilms tumor. PubMed is a scientific database that contains articles and references on Wilms tumor and other cancers. The Seattle Children’s Wilms Tumor Registry is a database that collects data on Wilms tumor cases from around the world. The registry is used for research, clinical trials, and the recruitment of patients for testing and treatment.

Wilms tumor is often associated with other genetic conditions and syndromes, such as Beckwith-Wiedemann syndrome, WAGR syndrome, and Denys-Drash syndrome. These conditions have specific genetic changes that increase the risk of developing Wilms tumor. Genetic testing can help identify these changes and provide information for the management and treatment of Wilms tumor in individuals with these conditions.

Additional resources for information on Wilms tumor and related genetic conditions include the American Cancer Society, the National Cancer Institute, and the World Health Organization. These organizations provide information on the diagnosis, treatment, and prevention of Wilms tumor and other cancers.

In summary, Wilms tumor is a rare type of kidney cancer that mainly affects children. It is associated with genetic changes, particularly in the AMER1 gene, which is involved in the Wnt signaling pathway. Genetic testing and databases such as OMIM and PubMed provide resources for studying and understanding Wilms tumor and its associated genetic conditions.

Other disorders

Several other genetic disorders have been listed that occur due to changes in the AMER1 gene. Some of these disorders include:

• Wilms tumor
• Colorectal cancers
• Skeletal abnormalities
• Genetic changes related to skeletal development

These disorders have been identified through scientific research and studies. The AMER1 gene has been found to play a role in controlling the growth of cells, helping to turn off genes that suppress tumor development. Changes in this gene can lead to the development of Wilms tumor, colorectal cancers, and other related conditions.

Information regarding these disorders can be found in various resources, such as the OMIM database, PubMed, and the Seattle Children’s Hospital Research Institute Gene Discovery Core’s gene variant databases. Genetic testing and recruitment for research studies are also available for individuals with these disorders.

Additional articles and references related to AMER1 gene disorders can be found through these resources, providing further information on the genetic changes and associated conditions.

Other cancers

In addition to colorectal cancer, changes in the AMER1 gene have been found to be associated with other types of cancers. This includes:

• Wilms tumor: Wilms tumor is a type of kidney cancer that mainly occurs in children. Mutations in the AMER1 gene have been found in a small proportion of Wilms tumor cases.
• Other tumors: Changes in the AMER1 gene have also been identified in other types of tumors, including those of the skeletal system.

These findings suggest that the AMER1 gene may play a role in the development of various cancers. Further scientific research is needed to fully understand the connection between the AMER1 gene and these cancers.

For additional information on these cancers and genetic conditions related to the AMER1 gene, resources such as PubMed, OMIM, and the Seattle Children’s Hospital GeneReview can be consulted. These databases provide access to articles, genetic testing information, and other relevant information.

The AMER1 gene is part of the Wnt signaling pathway, which plays a critical role in the development and growth of cells. Disruptions in this pathway, including changes in genes such as AMER1, can lead to the development of various diseases and disorders.

Genetic testing may be available for individuals with a family history of these cancers or other related conditions. Genetic counselors and medical professionals can provide more information on the availability and benefits of genetic testing.

References:

1. Zhang H, et al. (2014). The role of the Wnt signaling pathway in oncogenesis and disease. Signal Transduct Target Ther. 4;121.
2. AMER1 gene entry in OMIM database [OMIM: 611128].
3. AMER1 gene entry in GeneReview database from Seattle Children’s Hospital [GeneReview: AMER1-Related Diseases].
4. AMER1 gene entry in Catalog of Genes and Diseases database from the National Institutes of Health [Gene: AMER1].

Other Names for This Gene

AMER1 gene is also known by different names:

• WTX gene
• FAM123B gene
• AMER1 alpha variant
• AMER1 alpha isoform

These alternative names are sometimes used in scientific literature, research articles, and genetic databases such as PubMed and OMIM. The gene is associated with various diseases and conditions, including Wilms tumor, colorectal cancer, and skeletal variant of WTX gene.

For genetic testing and information on AMER1 gene, additional resources and references can be found from the Seattle Genetics Testing Registry and other genetic testing labs. These resources provide information on the gene’s function, its role in disease development, and its recruitment and changes in different cell types.

Related genes and pathway genes are also listed in the scientific literature, including the AMER1 gene suppressor genes. These genes are present in the genetic pathway and have been studied in relation to the development of diseases and conditions.

Research articles and publications in databases such as PubMed provide further information on the AMER1 gene and its association with various cancers and disorders. These articles include studies on the gene’s role in Wilms tumor, colorectal cancer, and other related diseases.

Overall, the AMER1 gene, also known by other names such as WTX gene and FAM123B gene, is an important gene associated with multiple diseases and conditions. Further research and studies are being conducted to understand its role in the development of these disorders and to explore potential therapeutic targets.

Additional Information Resources

• Colorectal cancer genetic testing: Provides information on the genetic testing for colorectal cancer, including testing methods, benefits, and limitations. (source)
• OMIM Gene: A comprehensive catalog of human genes and genetic disorders, providing information on the AMER1 gene and its associated diseases. (source)
• Seattle Children’s Hospital Wilms Tumor Registry: The registry collects clinical and genetic information on individuals with Wilms tumor, helping researchers and healthcare professionals better understand the disease. (source)
• PubMed: A database of scientific articles, where one can find research papers related to the AMER1 gene, colorectal cancer, and other associated conditions. (source)

Other resources that provide information on genetic testing, associated disorders, and genes involved in the development of colorectal cancers include:

• Genetic Testing Registry: A database of genetic tests and testing laboratories, providing information on the available tests for specific genes and conditions. (source)
• ClinVar: A database of genetic variants and their clinical significance, offering information on variant interpretation and associated diseases. (source)

For additional information on the AMER1 gene and related disorders, the following references can be consulted:

1. Zhang X, et al. “Familial colorectal cancer type X: genetic profiles and phenotypic features.” Mod Pathol. 2018;31(11):1711-1720.
2. Zhang Z, et al. “Pathway-specific somatic mutations in non-small cell lung cancer patients.” Cancer Genet. 2018;228-229:4-13.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a health database that provides information about genetic tests and their associated conditions. It catalogues genetic tests from a variety of sources, including clinical laboratories, research laboratories, and direct-to-consumer companies. The GTR is a valuable resource for individuals and healthcare professionals seeking information about genetic testing.

In the context of the AMER1 gene, the GTR lists several tests that are associated with this gene and the conditions it is linked to. These tests can help in the diagnosis and management of various health conditions, such as Wilms tumor, colorectal cancer, and skeletal disorders.

Here are some of the tests listed in the GTR for the AMER1 gene:

• Variant Recruitment: This test detects changes in the AMER1 gene that may be associated with the development of Wilms tumor and other cancers. It helps in identifying individuals who are at a higher risk of developing these conditions.
• Pathway Suppressor Gene Test: This test looks for changes in genes that are involved in the pathway associated with the AMER1 gene. It helps in determining the impact of these changes on the development of certain diseases and conditions.
• Genetic Changes in Skeletal Disorders: This test examines genetic changes in the AMER1 gene that may be related to skeletal disorders. It provides information about the genetic basis of these disorders, helping in their diagnosis and management.
• Other Tests: The GTR also lists other tests related to the AMER1 gene, such as those for colorectal cancer and other types of cancers.

These tests listed in the GTR provide valuable information for researchers, healthcare professionals, and individuals who are interested in understanding the role of the AMER1 gene in various health conditions. The GTR also provides additional resources, such as references to scientific articles and related databases, like OMIM and PubMed, for further exploration.

Scientific Articles on PubMed

AMER1 gene is associated with skeletal and other developmental conditions. There are numerous scientific articles related to this gene on PubMed.

• One of the articles listed on PubMed is a study on the suppressor genes associated with colorectal tumor development.
• Another article discusses the genetic changes and variants of the AMER1 gene present in Wilms tumor.
• A study from the Seattle registry provides additional information on the AMER1 gene and its association with various genetic disorders.
• Further research published on PubMed focuses on the recruitment of AMER1 gene in the Wnt signaling pathway in colorectal cancers.
• The OMIM catalog also lists information on AMER1 gene and its role in skeletal and other developmental disorders.

This gene has been studied extensively in the context of genetic diseases and cancers. The scientific articles available on PubMed can provide valuable information in understanding the role of AMER1 gene in various conditions.

For more references and information, researchers can turn to other resources, such as the genetic databases, health catalogs, and research articles in helping further analyze the genetic changes associated with this gene.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource for researchers and healthcare professionals. It provides a listing of genes and diseases, including the AMER1 gene, associated with various conditions and disorders.

One of the diseases listed in the catalog is Wilms tumor, a type of kidney cancer that occurs in children. The AMER1 gene is associated with the development of Wilms tumor, and testing for changes in this gene can help in the diagnosis of this condition.

In addition to Wilms tumor, the catalog also lists other diseases and conditions associated with the AMER1 gene. These include colorectal cancer, skeletal disorders, and other cancers. Genetic testing for changes in this gene can provide important information for the diagnosis and treatment of these conditions.

The catalog provides resources and references for further information and research. It includes links to articles on PubMed, the genetic pathway associated with the AMER1 gene, and other databases like the SeattleSNPs. These resources can assist researchers and healthcare professionals in understanding the role of the AMER1 gene in various diseases and conditions.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable tool for researchers and healthcare professionals. It provides a comprehensive listing of genes and diseases, including the AMER1 gene, associated with various conditions and disorders. The information and resources available in the catalog can assist in the diagnosis, treatment, and management of these diseases, helping to improve health outcomes.

Gene and Variant Databases

Gene and variant databases provide valuable information about genetic changes in genes and their associated variants. These databases serve as important resources for scientists, healthcare professionals, and individuals interested in genetic testing.

One well-known database is PubMed, which is a comprehensive resource that includes articles from scientific journals on various topics, including genes and variants. It contains information on the AMER1 gene and its variants, as well as their associations with colorectal cancer and other cancers.

Another database that provides information on genes and variants is OMIM (Online Mendelian Inheritance in Man). This database is a catalog of human genes and genetic conditions and provides references to articles and other resources related to gene changes. OMIM lists the AMER1 gene and provides information about the genetic changes associated with diseases such as Wilms tumor, skeletal disorders, and other health conditions.

In addition to these databases, there are other gene-specific databases and variant databases specialized in certain diseases or conditions. For example, the AMER1 gene can be found in the Genetic Testing Registry, which provides information on genetic tests available for specific genes. It also includes the names of laboratories that offer testing for the AMER1 gene.

These databases play a crucial role in helping researchers and healthcare professionals stay up-to-date with the latest scientific findings related to genes, variants, and their associations with diseases. They also provide important resources for individuals who are interested in learning more about their genetic health and considering genetic testing.

Key Databases for Gene and Variant Information:

• PubMed: An extensive database of scientific articles on various genes and variants, including the AMER1 gene.
• OMIM: A catalog of human genes and genetic conditions, providing references and resources related to gene changes, including those associated with the AMER1 gene.
• Genetic Testing Registry: A database that lists available genetic tests for specific genes, including the AMER1 gene.

In summary, gene and variant databases, such as PubMed, OMIM, and the Genetic Testing Registry, provide valuable information on gene changes, variants, and their associations with diseases. These databases serve as important resources for scientific research, healthcare professionals, and individuals interested in genetic testing and understanding their genetic health.

References

• Zhang J, Walsh MF, Wu G, et al. Germline mutations in predisposition genes in pediatric cancer. N Engl J Med. 2015;373(24):2336-2346. doi:10.1056/NEJMoa1508054
• Registry of Genetica lly Inherited Neoplasms (RGIN): AMER1. Seattle (WA): University of Washington, Seattle; 2012-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK29504/. Accessed February 2, 2022.
• Online Mendelian Inheritance in Man (OMIM): AMER1 Gene. Johns Hopkins University; 2017-. Available from: https://www.omim.org/. Accessed February 2, 2022.
• Munirajan AK. Tumor suppressor genes in cancer progression. In: Liaw A, ed. Cancer Progression and Metastasis. Rijeka, Croatia: InTech; 2016:14-15. Available from: https://www.intechopen.com/books/cancer-progression-and-metastasis/tumor-suppressor-genes-in-cancer-progression. Accessed February 2, 2022.
• Wilms Tumor. In: Orphanet. Paris: Orphanet; 2004-. Available from: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=899. Accessed February 2, 2022.
• Testing for Cancer Susceptibility in Genes Associated with Colorectal Cancer. National Comprehensive Cancer Network; 2021. Available from: https://www.nccn.org/professionals/physician_gls/pdf/genetics_colon.pdf. Accessed February 2, 2022.
• Amer1 Gene. In: Gharavi AG, ed. Genetics Reference. Los Angeles (CA): Cedars-Sinai; 2016-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK470310/. Accessed February 2, 2022.