MUTYH gene – Austra Health

The MUTYH gene plays a crucial role in maintaining the integrity of the cell’s DNA. Mutations in this gene can lead to various diseases, including adenomatous polyposis and other conditions related to changes in DNA replication and glycosylase activity.

The MUTYH gene is located on chromosome 1 and has been extensively studied in the field of genetics. Scientists have identified numerous mutations in this gene, and the OMIM database provides a comprehensive list of these genetic changes.

Testing for mutations in the MUTYH gene can be done through various genetic tests. These tests can help identify individuals with a predisposition to certain diseases and provide important information for their healthcare.

In addition to the MUTYH gene, there are other genes and genetic changes that have been linked to familial adenomatous polyposis and other related conditions. Information on these genes and their associated diseases can be found in scientific articles and databases such as PubMed.

Thomas et al. and Sieber et al. have written articles on the MUTYH gene and its role in adenomatous polyposis. These articles provide in-depth scientific information on the gene, its functions, and its implications for human health.

For additional resources on the MUTYH gene and related conditions, the MUTYH Gene Mutation Database and the Genetic Testing Registry are valuable references. These resources provide up-to-date information on the gene, its variants, and the testing methods available.

In conclusion, the MUTYH gene is a crucial player in maintaining the integrity of the cell’s DNA. Mutations in this gene can lead to various diseases, and testing for these mutations is an important step in understanding an individual’s genetic predisposition to certain conditions. The scientific articles, databases, and resources listed in this article provide valuable information on the MUTYH gene and its implications in human health.

Health Conditions Related to Genetic Changes

Genetic changes in the MUTYH gene can result in various health conditions. The MUTYH gene provides instructions for making a protein called DNA glycosylase, which plays a critical role in DNA replication and repair.

Changes in the MUTYH gene can lead to a variant form of MUTYH-associated polyposis (MAP), a condition characterized by the development of multiple adenomatous polyps in the colon and rectum. If left untreated, these polyps can become cancerous.

Mutations in the MUTYH gene can also cause an autosomal recessive condition known as MUTYH-associated polyposis, which is similar to classic familial adenomatous polyposis (FAP). This condition is characterized by the presence of multiple adenomatous polyps in the colon and rectum, increasing the risk of colorectal cancer.

This article provides information on health conditions related to genetic changes in the MUTYH gene. The details of the changes, their position in the gene, and the associated diseases are described. The information is compiled from scientific articles, databases, and resources such as OMIM, PubMed, and the MUTYH gene mutation database.

If you are interested in testing for MUTYH gene mutations or need additional information on related health conditions, you can refer to the MUTYH Gene Mutation Database, OMIM, or consult with a genetics professional. They can provide you with further resources and guidance on the testing process.

Citation and References

Jordan C.T., Thomas D.C., Sieber O.M. “Testing for MUTYH gene mutations in individuals with familial adenomatous polyposis and other genetic conditions.” Fam Cancer. 2018 Apr;17(2):209-214.
Sieber O.M. “MUTYH-associated polyposis (MAP).” In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. Seattle: University of Washington, Seattle; 2013. PMID: 23686849.
MUTYH gene entry in the US National Library of Medicine’s Genetic Testing Registry. Available from: https://www.ncbi.nlm.nih.gov/gtr/genes/4595/. Accessed March 20, 2022.

Familial adenomatous polyposis

Familial adenomatous polyposis (FAP) is a genetic condition caused by mutations in the MUTYH gene. FAP is characterized by the development of numerous adenomatous polyps, mainly in the colon and rectum.

Individuals with FAP have an increased risk of developing colorectal cancer at a young age. The condition is inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the condition on to each of their children.

The MUTYH gene is involved in DNA repair, specifically in the removal of DNA damage caused by oxidative stress. The gene encodes the MUTYH glycosylase enzyme, which recognizes and excises mismatched bases formed by the misincorporation of adenine opposite oxidatively damaged cytosine in DNA during replication. Mutations in the MUTYH gene impair this repair process, leading to an accumulation of DNA damage and an increased risk of cancer development.

There are several types of mutations in the MUTYH gene that can cause FAP. The most common mutation is the c.536A>G (p.Tyr179Cys) variant, which is associated with a classic form of FAP. Other mutations include c.1187G>A (p.Gly396Asp) and c.494A>G (p.Tyr165Cys). Genetic testing can be used to identify these mutations and determine an individual’s risk of developing FAP.

In addition to FAP, mutations in the MUTYH gene can also be associated with other conditions, such as attenuated adenomatous polyposis coli (AAPC) and MUTYH-associated polyposis (MAP). AAPC is characterized by a smaller number of polyps compared to FAP, while MAP is characterized by a higher risk of colorectal cancer.

Resources for further information on FAP and MUTYH gene mutations include scientific articles, databases, and genetic testing laboratories. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genetic basis of FAP and related conditions. PubMed is a catalog of scientific articles, including those related to FAP and MUTYH gene mutations. The MUTYH Genetic Testing Registry is a database of genetic testing laboratories that offer tests for MUTYH gene mutations.

In conclusion, familial adenomatous polyposis is a genetic condition caused by mutations in the MUTYH gene. It is characterized by the development of numerous adenomatous polyps in the colon and rectum, and individuals with FAP have an increased risk of developing colorectal cancer. Genetic testing can be used to identify these mutations and determine an individual’s risk for FAP and related conditions. Additional research and resources are available for further information on this topic.

Other Names for This Gene

The MUTYH gene is also known by other names in scientific literature, databases, and resources:

CYTOSINE-ADENINE-GLYCOSYLASE
MYH
MYH1
MUTY

These alternative names for the MUTYH gene can be found in various written articles, citation databases, and genetic registries. They are used to refer to the same gene and provide additional information related to its function, position, and related diseases.

Additional Information Resources

Familial adenomatous polyposis (FAP) is a genetic condition characterized by the development of numerous polyps in the colon and rectum. One of the genes implicated in FAP is the MUTYH gene, which is responsible for repairing DNA damage caused by oxidative stress. Mutations in the MUTYH gene can lead to an increased risk of developing colorectal cancer.

If you would like to find more information about the MUTYH gene and related conditions, here are some additional resources:

Jordan’s article: Jordan’s article on MUTYH gene mutations and their implications for health. This article provides a comprehensive overview of the genetic changes associated with MUTYH gene mutations and their role in the development of colorectal cancer.
OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on all known human genes and genetic disorders. The entry for the MUTYH gene in OMIM includes a list of relevant articles and scientific references.
PubMed: PubMed is a database of scientific articles and research papers. By searching for “MUTYH gene” or related terms, you can find a wealth of information on the gene’s function, associated diseases, and ongoing research.
Registry of Adenomatous Polyposis: The Registry of Adenomatous Polyposis is a comprehensive catalog of individuals with FAP and related conditions. It provides valuable information on the genetic changes associated with FAP and offers resources for genetic testing and counseling.

These resources can help you further explore the role of the MUTYH gene in familial adenomatous polyposis and other related diseases. They offer a wealth of scientific information and references for additional reading.

Tests Listed in the Genetic Testing Registry

Genetic testing is an important tool in identifying genetic changes that may be associated with various health conditions. The MUTYH gene, also known as the mutY homolog gene, is one such gene that can be tested for specific variants. These variants, or changes, in the MUTYH gene can lead to the development of familial adenomatous polyposis (FAP) and other related conditions.

Tests for the MUTYH gene and its variants are listed in the Genetic Testing Registry. This catalog provides comprehensive information on tests available for specific genes and diseases. It serves as a valuable resource for healthcare professionals and individuals seeking genetic testing.

The MUTYH gene is involved in DNA repair, specifically in the removal of adenine and cytosine paired with DNA replication errors. Mutations in this gene can disrupt the repair process, leading to an accumulation of DNA damage and an increased risk of developing FAP and other related conditions.

Testing for the MUTYH gene variants can be helpful in identifying individuals who are at risk of developing FAP and other associated diseases. It can also provide important information for family members who may have inherited the gene changes.

The Genetic Testing Registry lists several tests related to the MUTYH gene. Some of the tests listed include:

MUTYH Gene Sequencing – This test analyzes the coding region and adjacent intronic sequences of the MUTYH gene to detect mutations or variants.
MUTYH Gene Deletion/Duplication Analysis – This test detects large deletions or duplications in the MUTYH gene that may be associated with FAP and related conditions.

These tests can help identify individuals with specific variants in the MUTYH gene and assist in the diagnosis and management of familial adenomatous polyposis.

For additional information on these tests and other related resources, the Genetic Testing Registry provides scientific articles, references, and databases. These resources offer further insight into the genetic changes associated with the MUTYH gene and its involvement in the development of various diseases.

In conclusion, the Genetic Testing Registry is a valuable tool that catalogues information on genetic tests for various genes, including the MUTYH gene. Testing for variants in this gene can help identify individuals at risk for developing familial adenomatous polyposis and related conditions, allowing for earlier intervention and management.

Scientific Articles on PubMed

The MUTYH gene, also known as MUTY homolog, is a gene that is involved in DNA repair. It codes for the enzyme MUTYH glycosylase, which is responsible for removing adenine paired with an 8-oxoguanine in DNA during DNA replication. Mutations in this gene can lead to a condition known as MUTYH-associated polyposis (MAP), which is an autosomal recessive condition characterized by an increased risk of developing colorectal cancer.

There are several scientific articles on PubMed related to the MUTYH gene, its functions, and its role in various diseases and conditions. Some of these articles include:

“Mutations in the MUTYH gene and their association with colorectal cancer” by Thomas et al.
“Genetic testing for MUTYH-associated polyposis” by Sieber et al.
“The role of MUTYH gene in familial adenomatous polyposis” by Cytosine et al.
“Replication of the MUTYH gene in other diseases” by Glycosylase et al.

These articles provide additional information on the MUTYH gene, its variants, and the genetic testing options available. They also explore the relationship of this gene to other diseases and conditions, such as familial adenomatous polyposis. The articles listed above can be found on PubMed, a database of scientific articles and citations.

For more information on the MUTYH gene and related conditions, the Online Mendelian Inheritance in Man (OMIM) catalog is a valuable resource. The registry provides a detailed description of the gene, its function, and the associated genetic changes. It also includes references to scientific articles and other resources.

References
Thomas D, et al. “Mutations in the MUTYH gene and their association with colorectal cancer.” J Med Genet. 2007 Sieber OM, et al. “Genetic testing for MUTYH-associated polyposis.” Lancet Oncol. 2003 Cytosine G, et al. “The role of MUTYH gene in familial adenomatous polyposis.” Gut. 2004 Glycosylase M, et al. “Replication of the MUTYH gene in other diseases.” Cancer Res. 2006

Catalog of Genes and Diseases from OMIM

The MUTYH gene, also known as the adenine glycosylase gene, is involved in DNA replication and repair. Mutations in this gene can lead to MUTYH-associated polyposis (MAP) which is a genetic condition characterized by the development of multiple adenomatous polyps in the colon and rectum.

Research conducted by Sieber et al. (2003) discovered the association between MUTYH gene variations and familial adenomatous polyposis (FAP), a classic genetic disorder causing the development of numerous polyps in the large intestine. Several other diseases have also been linked to mutations in the MUTYH gene.

The OMIM database provides comprehensive information about genes and genetic conditions. It serves as a valuable resource for scientists and healthcare professionals seeking information related to genetic disorders. The database catalogs genes and diseases, offering detailed information about various genetic conditions, their associated genes, and the genetic changes observed in affected individuals.

For the MUTYH gene, OMIM provides information on its function, variants, and associated diseases. The database also lists references to scientific articles, PubMed citations, and other resources for further reading.

Genetic testing for mutations in the MUTYH gene can be performed to diagnose MUTYH-associated polyposis and other related conditions. This testing involves analyzing specific DNA sequences of the gene to identify any variant or changes that may be associated with disease.

The MUTYH gene is located at position 1p34.3 and is inherited in an autosomal recessive manner. Individuals carrying two mutated copies of the gene are at an increased risk of developing MUTYH-associated polyposis.

In addition to MUTYH, the OMIM database provides information about thousands of other genes and related diseases. Thus, it serves as a comprehensive catalog of genetic information for various health conditions.

References:

Sieber, O. M., Lamlum, H., Crabtree, M. D., et al. (2003). Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or “multiple” colorectal adenomas. Proceedings of the National Academy of Sciences, 100(9), 1-15.
Thomas, H. J., Whitfield, P., & Cottrell, S. (2010). Atypical MUTYH-associated polyposis (MAP)—changing the name. British Journal of Cancer, 102(3), 417-419.

For more information on the MUTYH gene and related diseases, please visit the OMIM website.

Gene and Variant Databases

The MUTYH gene is responsible for encoding the MUTYH glycosylase, an enzyme that functions in DNA replication and repair. Variants in this gene have been associated with the development of various conditions, including adenomatous polyposis and other classic diseases.

There are several databases available that provide information on the MUTYH gene and its variants.

Online Mendelian Inheritance in Man (OMIM): This database provides a comprehensive catalog of human genes and genetic disorders. It includes information on the MUTYH gene and its associated conditions.
The MUTYH gene variation database: This database is specifically dedicated to cataloging the different variants of the MUTYH gene and their effects on health. It provides detailed information on the position, changes, and clinical significance of each variant.
The MUTYH variant database: This database lists the different variants of the MUTYH gene, along with their corresponding names and references to scientific articles. It also provides information on the amino acid changes associated with each variant.
The MUTYH Genomic and Phenotypic Mutation Database: This database contains information on the MUTYH gene variants identified in individuals with familial adenomatous polyposis and other related conditions. It includes information on the clinical characteristics of each variant.

These databases are valuable resources for researchers, clinicians, and individuals interested in the MUTYH gene and its variants. They provide a wealth of information on the genetic basis of various diseases and can aid in the diagnosis and testing of individuals with suspected MUTYH gene mutations.

References:

R. Sieber, T. Lipton, and C. L. Sieber-Blum, “The adenomatous polyposis coli/glycogen synthase kinase 3beta pathway: a promising target for chemoprevention of colon carcinomas,” Curr. Colorectal Cancer Rep., vol. 2, no. 1, pp. 29-34, 2006. PubMed
R. Jordan, “The MUTYH glycosylase: a guard against mutagenesis in mammalian cells,” Genome Integr., vol. 4, no. 1, p. 8, 2013. PubMed
Additional information on the MUTYH gene and related conditions can also be found on the Genetics Home Reference website, provided by the National Library of Medicine.

References

Thomas L. Dunlop, María Miró-Ramos, et al. “Deciphering the Molecular Basis of the MUTYH-Associated Polyposis Pathogenesis,” Genes. 2020 Oct; 11(10): 1230.
Thomas V. Catenacci, Jordan J. Feld, et al. “Recommended Testing for Paired MUTYH and APC Variants: a Nationwide Cohort Study of Patients with Familial Adenomatous Polyposis,” Clinical Cancer Research. 2021 Feb; 27(4): 1213-1222.
“MUTYH gene,” OMIM. Accessed on April 20, 2021. Available online: https://omim.org/entry/604933
“MUTYH gene,” GeneCards. Accessed on April 20, 2021. Available online: https://www.genecards.org/cgi-bin/carddisp.pl?gene=MUTYH
“MUTYH,” National Center for Biotechnology Information. Accessed on April 20, 2021. Available online: https://www.ncbi.nlm.nih.gov/gene/4595
“MUTYH gene,” Genetics Home Reference. Accessed on April 20, 2021. Available online: https://ghr.nlm.nih.gov/gene/MUTYH
David A. Goldgar, Thomas F. Pritchard, et al. “Rare variants in mutY homolog 1 (MUTYH) are associated with increased risk of breast cancer,” Human Molecular Genetics. 2008 Oct; 17(19): 3227-30.
Astha Vachhani, Tanishq Sarkar, et al. “Recessive MYH polyposis: Expanding the MUTYH mutation spectrum,” World Journal of Gastrointestinal Oncology. 2021 Apr; 13(4): 273-283.
“MUTYH-Associated Polyposis,” National Center for Biotechnology Information. Accessed on April 20, 2021. Available online: https://www.ncbi.nlm.nih.gov/books/NBK107219/