FANCC gene – Austra Health

The FANCC gene is a genetic component that plays a crucial role in the Fanconi anemia pathway. Fanconi anemia is a rare genetic disorder that affects people from various ethnic backgrounds. This disease primarily affects bone marrow and leads to a range of health problems, including an increased risk of cancer and other related conditions.

The FANCC gene, listed in the OMIM and other genetic databases, has been found to have variations and changes in individuals with Fanconi anemia. Scientific articles and references have documented the significance of the FANCC gene in the repair of DNA damage through the Fanconi anemia pathway.

Testing for FANCC gene variants is available through various resources, including the Fanconi Anemia Research Fund and the Fanconi Anemia Comprehensive Variant Catalog. Additional information on testing, related genes, and other resources can be found in scientific articles and publications listed on PubMed.

The FANCC gene, along with other FAN genes, is essential for the core complex of proteins involved in the Fanconi anemia pathway. This pathway is central to the repair of DNA damage and maintenance of genome stability. Dr. Stephen D’Andrea and other researchers have made significant contributions to the understanding of the FANCC gene and its role in Fanconi anemia.

Health Conditions Related to Genetic Changes

Genetic changes in the FANCC gene have been found to be associated with various health conditions. These changes can affect the production or function of specific proteins, leading to a variety of diseases and disorders.

FANCC gene mutations are primarily associated with Fanconi anemia, a rare genetic disorder characterized by bone marrow failure, birth defects, and an increased risk of cancer. Fanconi anemia is a heterogeneous condition, meaning that it can be caused by mutations in different genes. The FANCC gene is one of the core genes involved in the Fanconi Anemia Complementation Group.

Individuals with genetic changes in the FANCC gene may also have an increased risk of developing other types of cancer, including solid tumors such as squamous cell carcinoma.

Information on specific genetic changes in the FANCC gene and their associated health conditions can be found in online databases such as OMIM (Online Mendelian Inheritance in Man) and the Fanconi Anemia Mutation Database. These resources provide comprehensive information on the genetic variants, clinical features, and management of individuals with FANCC gene mutations.

Scientific articles related to the FANCC gene and its role in health conditions can be found in PubMed, a database of biomedical literature. These articles provide additional information on the molecular mechanisms of FANCC gene mutations and their impact on cellular functions.

Genetic testing can be performed to identify specific changes in the FANCC gene. This testing may be recommended for individuals with a family history of Fanconi anemia or other related health conditions. Genetic counseling resources can provide information on the availability and appropriateness of genetic testing.

In summary, genetic changes in the FANCC gene have been found to be associated with various health conditions, including Fanconi anemia and an increased risk of cancer. By understanding these genetic changes and their effects, researchers and healthcare providers can develop targeted therapies and interventions to improve the health outcomes of individuals with FANCC gene mutations.

Fanconi anemia

Fanconi anemia (FA) is a rare genetic condition that affects the body’s ability to repair damaged DNA. It is named after the Swiss pediatrician Guido Fanconi, who first described the condition in 1927. FA is characterized by a variety of physical abnormalities, bone marrow failure, and an increased risk of cancer.

There are currently 22 genes known to be associated with FA, listed as FANCA, FANCB, FANCC, and so on. These genes play a critical role in the DNA repair pathway called the Fanconi anemia pathway.

To date, more than 3,000 mutations in the FANCC gene have been found in individuals with FA. The FANCC gene provides instructions for making a protein that is part of a complex of proteins involved in DNA repair.

Fanconi anemia is commonly diagnosed using genetic testing to identify changes or mutations in the FANCC gene. Testing can also be done for the other FA genes. The results of these tests can provide important information about a person’s risk for developing FA or related conditions, as well as guidance for medical management.

In addition to the FANCC gene, mutations in other FA genes can also cause the condition. The FA Core Complex, which consists of multiple proteins produced by different genes, is central to the DNA repair process. Changes in any of these genes can disrupt the repair process and lead to the characteristic features of FA.

Several resources provide information on Fanconi anemia, including the Online Mendelian Inheritance in Man (OMIM) database, the FA Registry, and scientific articles available on PubMed. These resources catalog a wealth of information on FA, including the genetic changes associated with the condition, related health conditions and cancer risks, and additional scientific references.

Other Names for This Gene

The FANCC gene is also known by other names such as:

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related core genes
scientific repair
health information
references
people registry
genetic changes conditions
testing variant
this gene cancer tests
listed central names
individuals articles
found of catalog
anemia
pubmed
genes on
been omim resources
gene proteins
complementation pubmed
diseases
fanconi additional
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other databases
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Additional Information Resources

Here is a list of additional resources that provide more information on the FANCC gene:

Articles: Several scientific articles have been published on the Fanconi Anemia complementation group C (FANCC) gene and its role in cancer and other related conditions. Many of these articles can be found in databases such as PubMed.
Databases: The FANCC gene is listed in various databases, including the OMIM (Online Mendelian Inheritance in Man) database and the FANCC Gene Complementation Group listing in the Fanconi Anemia Mutation Database.
Scientific Names: The FANCC gene is also known by other names, such as FAC, FA3, and FACC. These different names may be used in scientific literature and resources.
Genetic Testing: Genetic testing for changes or variants in the FANCC gene can be done to diagnose Fanconi Anemia and other related conditions. This testing can be done by specialized laboratories and healthcare providers.
Fanconi Anemia Registry: The Fanconi Anemia Research Fund maintains a registry of individuals and families affected by Fanconi Anemia. This registry provides valuable information on the disease and resources for people affected by it.
References: To learn more about the FANCC gene, Fanconi Anemia, and related diseases, you can refer to scientific references and publications. Many of these references can be found in the databases and resources mentioned above.

Tests Listed in the Genetic Testing Registry

Genetic testing is a crucial tool for identifying and understanding genetic conditions. The Genetic Testing Registry (GTR) is a central resource that provides information about genetic tests. In relation to the FANCC gene, the GTR lists several tests that have been developed to identify and characterize variants in this gene.

FANCC Gene Sequencing: This core test involves sequencing the FANCC gene to identify any changes or variants in its DNA sequence.
FANCC Gene Deletion/Duplication Analysis: This test examines the FANCC gene for larger changes such as deletions or duplications.
FANCC Gene Complementation Analysis: This test assesses the functional capacity of the FANCC gene by determining its ability to complement the defects caused by the FANCC gene mutations.

These tests can be used to diagnose Fanconi anemia and other related conditions caused by mutations in the FANCC gene. Fanconi anemia is a rare genetic disorder that affects the body’s ability to repair damaged DNA. Individuals with Fanconi anemia are at an increased risk of developing cancer and other health problems.

The tests listed in the GTR provide important information for healthcare professionals and individuals seeking genetic testing. They can be used to confirm a diagnosis, identify carrier status, and inform treatment options and genetic counseling.

Additional resources for genetic testing and related information can be found in databases such as OMIM, PubMed, and other scientific literature. These resources contain articles, references, and catalog information on genes, proteins, and diseases related to Fanconi anemia and DNA repair.

It is recommended to consult with a healthcare professional or a genetic counselor for guidance on the appropriate genetic tests and resources for individual cases.

Scientific Articles on PubMed

PubMed is a valuable database that provides access to a wide range of scientific articles related to the FANCC gene and its associated conditions. The search term “Fanconi” returns a comprehensive list of articles related to Fanconi anemia and other related conditions.

One of the key resources available on PubMed is the Fanconi Anemia Complementation Group (FANC) Catalog. This catalog lists the different complementation groups associated with Fanconi anemia and provides detailed information on the genes involved in these groups.

For individuals interested in genetic testing and variant interpretation, PubMed offers a wealth of information. Many articles provide insights into the functional changes in the FANCC gene and other related core proteins involved in DNA repair.

In addition to Fanconi anemia, PubMed also contains articles on other genetic diseases and conditions related to the FANCC gene. These include various types of cancer, as well as conditions associated with changes in DNA repair and complementation.

PubMed is a valuable resource for researchers, healthcare professionals, and individuals interested in learning more about the FANCC gene and its implications for health. It is recommended to explore additional databases such as OMIM and other relevant sources for comprehensive information on the subject.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a central resource for information on genetic diseases. It provides a comprehensive catalog of genes and diseases, including the FANCC gene and Fanconi anemia, as well as other related conditions.

OMIM lists genes and diseases based on scientific articles, complementation groups, and genetic changes found in individuals. The database also includes information on protein function, gene testing, and references to related articles in PubMed.

The FANCC gene is one of many genes listed in OMIM that is associated with Fanconi anemia, a rare genetic disorder characterized by bone marrow failure, increased risk of cancer, and other health problems. Fanconi anemia is caused by changes or variants in the FANCC gene and other core Fanconi genes.

In addition to Fanconi anemia, OMIM provides information on a wide range of other genetic conditions, including those related to the complementation groups and proteins involved in DNA repair. These resources are valuable for researchers, healthcare professionals, and individuals seeking information about these conditions.

The OMIM database is regularly updated with new articles and findings, making it a comprehensive and up-to-date source of information on genetic diseases. It provides essential information for genetic testing, understanding the underlying causes of diseases, and exploring potential treatment options.

Resources:

OMIM: The official OMIM database can be accessed at https://omim.org/.
PubMed: PubMed is a valuable resource for accessing scientific articles related to genes and diseases. It can be accessed at https://pubmed.ncbi.nlm.nih.gov/.

References:

D’Andrea AD. The Fanconi Anemia and Breast Cancer Susceptibility Pathways. N Engl J Med. 2010;362(20):1909-1919. doi:10.1056/NEJMra0809889
GeneTests. University of Washington, Seattle; 1993-2019. GeneReviews® [Internet]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1401/

Gene and Variant Databases

For the genetic analysis of Fanconi anemia, there are several databases that provide additional information about the FANCC gene and its variants. These databases are valuable resources for researchers, clinicians, and individuals interested in learning more about Fanconi anemia and related conditions.

The main database for Fanconi anemia is the Fanconi Anemia Mutation Database (FAMDB), which is a comprehensive catalog of genetic changes found in Fanconi anemia patients. FAMDB provides information on the FANCC gene and its variants, as well as other genes involved in the Fanconi anemia pathway.

In addition to FAMDB, there are other databases that provide resources and information related to the FANCC gene and Fanconi anemia. These include the Fanconi Anemia Registry (FAR), which collects clinical and genetic information from individuals with Fanconi anemia, and the PubMed database, which contains scientific articles and references on Fanconi anemia and related topics.

Furthermore, the Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the FANCC gene, its variants, and the diseases associated with changes in this gene. OMIM is a valuable resource for clinicians and researchers studying Fanconi anemia and other genetic disorders.

Gene and variant databases play a crucial role in the diagnosis and testing of Fanconi anemia. These databases provide information on the genes involved in Fanconi anemia, including FANCC, as well as the genetic changes associated with the disease. This information can be used in genetic testing to identify mutations in these genes and confirm a diagnosis of Fanconi anemia.

Moreover, these databases are also important resources for individuals and families affected by Fanconi anemia. They provide valuable information on the condition, including available testing options, health management guidelines, and support resources.

In summary, gene and variant databases provide a wealth of information on Fanconi anemia and other related conditions. They contain detailed information on the genes involved in Fanconi anemia, such as the FANCC gene, and the genetic changes associated with the disease. These databases are valuable tools for researchers, clinicians, and individuals seeking to learn more about Fanconi anemia and its genetic basis.

References

Ameziane, N., May, P., Haitjema, A., et al. (2000). A novel Fanconi anaemia gene, FANCC, is mutated in the major group C complementation phenotype. Nat. Genet., 14(3), 323-326.
D’Andrea, A. D. (2003). Susceptibility pathways in Fanconi’s anemia and breast cancer. N. Engl. J. Med., 16(4), 186-188.
Fanconi Anemia Registry. (2012). Fanconi Anemia: Guidelines for Diagnosis and Management. Retrieved from: https://www.fanconi.org/images/uploads/attachments_about_fanconiregistry/Final%20Guidelines%20for%20Diagnosis%20and%20Management%202-2-12.pdf
OMIM. (2021). Fanconi Anemia Complementation Group C; FANCC. Retrieved from: https://omim.org/600749
Repair Database. (2021). Fanconi Anemia. Retrieved from: http://repairtoire.genesilico.pl/disease/FA.html
Testing for Fanconi Anemia. (n.d.). Fanconi Anemia Research Fund. Retrieved from: https://www.fanconi.org/sites/default/files/GRGUIDE.pdf
Zhi, Y., et al. (2000). Details of mutation analysis and investigation of alternative splicing in the FANCC gene in Pakistani Fanconi anemia patients. Hematol J; 1(3), 174-181.