BRCA1 gene – Austra Health

The BRCA1 gene, also known as the breast cancer gene 1, is a gene that plays a significant role in the development of breast and ovarian cancer. It is one of the two main genes associated with hereditary breast and ovarian cancer syndrome, the other being BRCA2.

The BRCA1 gene is responsible for the production of a protein that helps to repair damaged DNA. Mutations in this gene can lead to a faulty repair process, increasing the risk of developing breast and ovarian cancer. These mutations can be inherited, and women who carry them have a higher chance of developing these types of cancers in their lifetime.

There are various databases available that provide additional information on the BRCA1 gene and its role in cancer. These databases include the National Center for Biotechnology Information (NCBI), which provides access to scientific articles, publications, and genetic testing resources related to the BRCA1 gene. The Online Mendelian Inheritance in Man (OMIM) catalog, another valuable resource, lists the names and characteristics of genetic conditions, including those associated with BRCA1 and BRCA2 mutations.

Genetic testing for BRCA1 mutations is available, and it can help identify individuals who carry these changes in the gene. This testing can be done to assess the risk of developing breast, ovarian, and other related cancers. Counseling and resources are also available for those who test positive for BRCA1 mutations, including information on preventive measures and treatment options.

Health Conditions Related to Genetic Changes

Genetic changes in certain genes can lead to an increased risk of developing different types of cancer. One such gene is the BRCA1 gene, which plays a crucial role in repairing DNA breaks and maintaining the stability of the genome. Changes, or variants, in this gene have been found to be associated with an increased risk of breast cancer, ovarian cancer, and other cancers.

Women who carry certain variants of the BRCA1 gene have a significantly higher risk of developing breast and ovarian cancer compared to women who do not carry these variants. These variants can be identified through genetic testing, which analyzes an individual’s DNA for changes in specific genes. Genetic testing can help women make informed decisions about their health and take preventive measures if necessary.

In addition to breast and ovarian cancer, changes in the BRCA1 gene have also been associated with an increased risk of other types of cancer, including prostate cancer, pancreatic cancer, and cholangiocarcinoma. The BRCA1 gene is just one example of many genes that are related to various health conditions.

Scientific articles and databases provide a wealth of information about the role of genetics in health conditions. The Online Mendelian Inheritance in Man (OMIM) database, for example, catalogs genes and genetic disorders, including those related to cancer. PubMed and the National Center for Biotechnology Information (NCBI) provide access to scientific articles and studies on various health conditions and their genetic basis.

Genetic testing and other resources are available to individuals who are interested in learning more about their genetic predispositions and potential health risks. These resources can help individuals understand their genetic makeup and make informed decisions about their healthcare. The BRCA1 gene is just one of the many genes that play a role in maintaining health and preventing disease.

In conclusion, genetics plays a significant role in the development of various health conditions, including cancer. Changes or variants in genes like BRCA1 can increase the risk of developing certain cancers. Genetic testing and scientific resources provide important information about genetic changes and their associated health conditions. It is crucial for individuals to access these resources and work with healthcare professionals to manage their genetic risks effectively.

Breast cancer

Breast cancer is a type of genetic cancer that affects the breasts in women. It is one of the most common cancers in women, and it can also affect men. Breast cancer can be caused by changes (mutations) in the BRCA1 and BRCA2 genes.

The BRCA1 gene, also known as the breast cancer susceptibility gene 1, plays a crucial role in DNA repair. Mutations in this gene can increase the risk of breast and ovarian cancers, as well as other types of cancers such as pancreatic and cholangiocarcinoma. The BRCA2 gene, or the breast cancer susceptibility gene 2, is another gene that is associated with an increased risk of breast, ovarian, prostate, and other cancers.

Testing for changes in these genes is available for individuals who carry a genetic risk for breast cancer and other related cancers. The National Cancer Institute (NCI) provides additional information on genetic testing and counseling for BRCA1 and BRCA2 genes.

There are resources available such as the BRCA1 Gene Database and the Online Mendelian Inheritance in Man (OMIM) database that catalog genetic changes and diseases associated with the BRCA1 gene. These databases provide scientific and health information on BRCA1-related conditions and cancers.

Articles listed in PubMed Central and other scientific journals provide further information and references on the role of BRCA1 and BRCA2 genes in breast cancer and other cancers. The American Journal of Medical Genetics (AJMG) and other genetics journals also publish articles on BRCA1 and BRCA2 genes.

In conclusion, breast cancer is a genetic disease where changes in the BRCA1 and BRCA2 genes play a significant role. Testing for these genes and understanding their functions can help identify individuals at risk for breast, ovarian, and other related cancers. It is important to stay informed about the latest research and resources available for genetic testing and counseling.

Ovarian cancer

Ovarian cancer is one of the diseases associated with the BRCA1 gene. Women who carry certain genetic variants of this gene have an increased risk of developing ovarian cancer. The BRCA1 gene is part of the BRCA gene family, which plays a key role in DNA repair.

There are several resources available for information on BRCA1 and ovarian cancer. The National Cancer Institute (NCI) provides a central testing registry for genes related to cancer, including BRCA1. This registry lists the genetic variants associated with ovarian cancer and other types of cancers. The NCI also offers genetic testing and counseling services.

In addition to the NCI, there are other scientific and health organizations that provide information on BRCA1 and ovarian cancer. The Genetic Testing Registry (GTR) is a central catalog of genetic tests, including those for BRCA1. OMIM (Online Mendelian Inheritance in Man) is a database that provides information on genetic conditions, including ovarian cancer. PubMed is a searchable database of scientific articles, many of which discuss the role of BRCA1 in ovarian cancer.

Women with a family history of ovarian cancer or other BRCA-related cancers, such as breast or pancreatic cancer, may consider genetic testing for BRCA1 and BRCA2. It is important to note that changes in these genes can also increase the risk of other types of cancers. Genetic testing can help identify individuals who are at a higher risk and may benefit from early screening or preventive measures.

For more information on BRCA1, ovarian cancer, and related conditions, including resources and references to scientific articles, women can consult their healthcare providers or seek information from reputable sources.

National Cancer Institute (NCI) – www.cancer.gov
Genetic Testing Registry (GTR) – www.ncbi.nlm.nih.gov/gtr
OMIM (Online Mendelian Inheritance in Man) – www.omim.org
PubMed – pubmed.ncbi.nlm.nih.gov

Prostate cancer

Prostate cancer is a type of cancer that primarily affects men. It is a condition in which abnormal cells grow and form tumors in the prostate, a small gland that produces seminal fluid. Prostate cancer is the second most common cancer among men worldwide.

Genetic factors play a role in the development of prostate cancer. Mutations in certain genes, including the BRCA1 and BRCA2 genes, have been associated with an increased risk of developing prostate cancer. These genes are also known to be associated with other types of cancer, including breast, ovarian, and pancreatic cancer.

The BRCA1 and BRCA2 genes are tumor suppressor genes, which means that they help prevent the growth of cancer cells. When these genes carry changes or variants, they may not function properly, leading to an increased risk of developing prostate cancer and other related cancers.

Scientific research has shown that individuals with mutations in the BRCA1 and BRCA2 genes have an increased risk of developing aggressive forms of prostate cancer. Furthermore, these genetic changes are often associated with earlier onset of the disease.

Testing for genetic changes in the BRCA1 and BRCA2 genes can provide important information for individuals at risk of developing prostate cancer. This information can help guide medical decisions and preventative measures.

Cholangiocarcinoma

Cholangiocarcinoma is a type of cancer that forms in the bile ducts, which are tubes that carry bile from the liver to the small intestine. It is a rare cancer, but its incidence has been increasing in recent years. Cholangiocarcinoma can occur in different parts of the bile ducts, including the intrahepatic (inside the liver), hilar (at the junction of the right and left hepatic ducts), and distal (outside the liver) regions.

Genetic changes in certain genes can play a role in the development of cholangiocarcinoma. The BRCA1 and BRCA2 genes, which are well-known for their role in breast and ovarian cancer, have been found to be associated with an increased risk of developing cholangiocarcinoma. Other genes involved in DNA repair and other cellular processes are also thought to be involved in the development of this cancer.

The OMIM (Online Mendelian Inheritance in Man) database provides a catalog of genes and genetic conditions. It lists the BRCA1 and BRCA2 genes as well as other genes associated with cholangiocarcinoma. The National Center for Biotechnology Information (NCBI) also provides resources such as PubMed and ClinVar, which contain articles and references related to cholangiocarcinoma and its genetic factors. Testing for genetic variants in these genes can provide additional information for diagnosis and treatment.

In addition to cholangiocarcinoma, the BRCA1 and BRCA2 genes are also associated with other cancers, including breast, ovarian, pancreatic, and prostate cancers. The BRCA1 and BRCA2 genes produce proteins that play a crucial role in DNA repair. Changes (mutations) in these genes can disrupt the normal function of the proteins and increase the risk of cancer development.

There are several organizations and registries that provide information and resources for individuals and families affected by cholangiocarcinoma and other related cancers. These resources include genetic testing, information on clinical trials, and support services. It is important for individuals with a family history of cholangiocarcinoma or related cancers to consult with a healthcare professional and consider genetic testing to assess their risk.

In conclusion, cholangiocarcinoma is a rare form of cancer that can be influenced by genetic changes in various genes, including BRCA1 and BRCA2. Genetic testing and resources from organizations and databases can provide valuable information for diagnosis and treatment. It is important for individuals at risk to seek appropriate medical advice and support.

Other cancers

In addition to breast and ovarian cancer, mutations in the BRCA1 gene have been associated with an increased risk of several other cancers. These include pancreatic cancer, cholangiocarcinoma, and prostate cancer. This article will provide a list of other cancers that are related to BRCA1 gene mutations and will give information on their genetics, risk factors, and available resources.

Ovarian cancer: Women with BRCA1 mutations have a significantly higher risk of developing ovarian cancer compared to those without the mutations.
Pancreatic cancer: Studies have shown that people with BRCA1 mutations have an increased risk of pancreatic cancer.
Cholangiocarcinoma: Recent research has suggested a connection between BRCA1 mutations and cholangiocarcinoma, a rare cancer that affects the bile ducts.
Prostate cancer: Some studies have found an association between BRCA1 mutations and an increased risk of prostate cancer in men.

Understanding the role of the BRCA1 gene in these cancers is central to developing effective prevention and treatment strategies. The study of BRCA1 and other related genes is an active area of research with many scientific articles published on the topic. Resources such as the National Library of Medicine’s PubMed database, the Online Mendelian Inheritance in Man (OMIM) catalog, and the Genetic Testing Registry (GTR) provide information and references on BRCA1 and related genes and their involvement in different cancers.

Genetic testing can identify specific changes or variants in the BRCA1 gene that may increase an individual’s risk of developing cancer. Tests for BRCA1 and BRCA2 genes are available and can be carried out by healthcare professionals. These tests can be useful for individuals with a family history of BRCA1-related cancers or for those who want to assess their cancer risk.

It is important to note that while BRCA1 mutations are associated with an increased risk of certain cancers, they are not the sole cause of these diseases. Many other factors, including lifestyle choices, environmental exposures, and other genetic variants, also play a role in cancer development.

Further research and understanding of the BRCA1 gene and its related proteins will continue to expand our knowledge of these cancers and help improve diagnosis, treatment, and prevention strategies.

Other Names for This Gene

The BRCA1 gene is also known by the following names:

Breast cancer type 1 susceptibility protein
Breast and ovarian cancer susceptibility gene 1
BRCA1/BRCA2-containing complex, subunit 1
BRCC1
BRCA1 early-onset breast cancer protein
FANCS
IRIS
PSCP
Protein phosphatase 1, regulatory subunit 53
PSCP
p53-binding protein
RING finger protein 53
RNF53
SCA1
breast cancer 1, early onset

The BRCA1 gene plays a central role in the genetics of breast and ovarian cancer. It provides instructions for making a protein that acts as a tumor suppressor. Mutations or changes in this gene can increase the risk of developing breast, ovarian, prostate, and other types of cancers.

Testing for mutations in the BRCA1 gene can provide valuable information for people who have a family history of these types of cancers. It can help identify individuals who may be at an increased risk and may need closer monitoring or preventive measures.

Additional scientific information and resources related to the BRCA1 gene can be found in databases such as OMIM, PubMed, and ClinVar. These databases provide genetic testing information, research articles, and references for further reading.

Related genes include BRCA2, which is another gene associated with hereditary breast and ovarian cancer. Together, these genes play a crucial role in DNA repair and the prevention of cancer-causing genetic changes or breaks.

References listed in this article include Natl. Cancer Inst., Cancer Genet. Cytogenet., and Genet. Clin. These references provide more detailed information on the role of the BRCA1 gene in cancer and other genetic conditions.

Additional Information Resources

The BRCA1 gene plays a crucial role in the development of breast and ovarian cancer. For women who carry a genetic variant in this gene, the risk of developing these cancers is significantly increased. The identification of such variants can be done through genetic testing.

There are several databases and resources that provide additional information and support for individuals interested in learning more about the BRCA1 gene, its role in cancer, and related conditions:

Online Mendelian Inheritance in Man (OMIM): This database provides in-depth information about genes and genetic conditions, including BRCA1 and BRCA2. It includes scientific articles and references related to these genes and the diseases they are associated with.
PubMed: A central hub for scientific articles and research papers, PubMed contains a vast collection of studies on the BRCA1 gene and its involvement in breast and ovarian cancer, as well as other related topics.
The Cancer Genome Atlas (TCGA): This comprehensive database provides genomic information about various types of cancers, including breast and ovarian cancer. It includes data on genetic changes, clinical information, and more, helping researchers understand the underlying mechanisms of these diseases.
The Breast Cancer Information Core (BIC): BIC is a database that catalogues BRCA1 and BRCA2 gene variants. It provides information about these variants, their association with cancer risk, and related references.
BRCA Share: This registry collects information from individuals who have undergone BRCA1 and BRCA2 genetic testing. It aims to gather data on the clinical and genetic characteristics of individuals carrying these genes, providing insights into cancer risk and its management.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a central place for information about genetic tests. In this article, we will focus on the tests listed in the GTR that are related to the BRCA1 gene.

The BRCA1 gene is associated with an increased risk of breast, ovarian, and prostate cancers. Mutations or changes in this gene can lead to an increased risk of developing these types of cancers. Genetic testing can help identify individuals who carry a gene variant associated with an increased risk.

The GTR lists various tests for the BRCA1 gene, including tests for specific gene variants and tests for related proteins involved in DNA repair. These tests can provide important information for individuals and healthcare professionals to assess cancer risk and develop appropriate screening and prevention strategies.

Some of the tests listed in the GTR include:

BRCA1 gene variant testing
BRCA1 protein expression testing
BRCA1 gene sequencing
BRCA1 DNA repair function testing

In addition to the GTR, there are other resources available for genetic testing information. The Online Mendelian Inheritance in Man (OMIM) and PubMed databases provide scientific articles, references, and related information on genetic testing, genes, and associated diseases.

Genetic testing plays a crucial role in understanding the genetic basis of diseases and identifying individuals at high risk. It provides vital information for genetic counselors, clinicians, and individuals to make informed decisions about their health. It is important to consult healthcare professionals or genetic counselors for additional information and guidance on genetic testing.

Scientific Articles on PubMed

PubMed is a central catalog of scientific articles related to genetics, cancer, and other diseases. It provides a comprehensive list of references and resources, including articles on the BRCA1 gene and its role in various types of cancers. These articles provide valuable information on gene changes, genetic testing, and the role of the BRCA1 gene in breast, ovarian, and prostate cancers, as well as pancreatic and cholangiocarcinoma.

Many articles on PubMed focus on the BRCA1 gene and its variant, BRCA2, which are known to carry a high risk of developing breast and ovarian cancers. These genes play a central role in DNA repair and are responsible for producing proteins that help prevent the formation of cancerous cells.

Genetic testing for BRCA1 and BRCA2 genes is an important tool in identifying individuals who may be at higher risk for these types of cancers. By testing for specific changes in these genes, clinicians can provide additional information and resources to help individuals make informed decisions about their health.

Additionally, PubMed lists articles on other genes and conditions related to cancer and genetics. This includes information on different genetic variants, their association with specific cancers, and the role they play in the development and progression of these diseases.

Overall, the scientific articles available on PubMed serve as a valuable resource for researchers, clinicians, and individuals seeking information on the BRCA1 gene, genetic testing, and related cancers and conditions.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a scientific database that catalogues information on genes and genetic diseases. It provides a central resource for genetic conditions and their related genes, including BRCA1 and BRCA2 genes.

OMIM lists the names and variants of genes associated with various diseases, including breast and ovarian cancers. The BRCA1 gene, for example, plays a significant role in the repair of DNA breaks, and changes in this gene can carry an increased risk for breast and ovarian cancers.

The catalog also includes information on other genes and proteins related to cancer, such as BRCA2 and genes associated with cholangiocarcinoma and prostate cancer. Additionally, OMIM provides articles and references from scientific databases like PubMed that discuss the genetics and testing of these conditions.

Clinicians and genetic testing laboratories can use OMIM as a resource for health testing and to access additional information on specific genes and diseases. The registry of gene and protein names, as well as variant information, is particularly valuable for interpreting genetic test results.

This catalog from OMIM is a comprehensive collection of scientific information on genes and diseases, making it an important tool for researchers, healthcare professionals, and individuals seeking information on genetic conditions.

For more information on this topic, you can refer to the following resources:

OMIM: Catalog of genes and diseases – https://www.omim.org/
National Center for Biotechnology Information (NCBI) – https://www.ncbi.nlm.nih.gov/
Genetics Home Reference – https://ghr.nlm.nih.gov/

Gene and Variant Databases

When it comes to studying the BRCA1 gene and its variants, there are several databases available that provide valuable information. These databases play a crucial role in understanding the role of these genes in various diseases such as breast and ovarian cancers, pancreatic cancer, and prostate cancer.

One of the main gene databases is the Breast Cancer Information Core (BIC) database. This database contains comprehensive information about the BRCA1 and BRCA2 genes, including their names, variant types, and associated scientific references. It also provides information about the proteins encoded by these genes and their role in DNA repair.

Another important database is the National Center for Biotechnology Information (NCBI) Gene database. This database provides detailed information about genes, including the BRCA1 gene, and their associated genetic variants. It also includes information about the role of these genes in different types of cancer and other related conditions.

The Online Mendelian Inheritance in Man (OMIM) database is another valuable resource. It serves as a comprehensive catalog of human genes and genetic disorders, including those related to the BRCA1 gene. This database provides information on the inheritance patterns, clinical features, and molecular basis of these genetic conditions.

In addition to these databases, there are central registries and databases that list individuals who carry BRCA1 gene variants. These registries often play a crucial role in facilitating genetic testing and providing additional information and resources to individuals and families affected by these variants.

Overall, these gene and variant databases serve as valuable resources for researchers, healthcare professionals, and individuals interested in understanding the role of the BRCA1 gene and its variants in various diseases. They provide a wealth of information, ranging from basic gene information to scientific references, on these genes and their associated conditions.

References

Genetests. “BRCA1 gene testing.” Available from: http://www.ncbi.nlm.nih.gov/books/NBK1135/. Accessed July 12, 2021.
Genetests. “BRCA2 gene testing.” Available from: http://www.ncbi.nlm.nih.gov/books/NBK6843/. Accessed July 12, 2021.
Natl Cancer Inst. “BRCA1 and BRCA2: Cancer Risk and Genetic Testing.” Available from: http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA. Accessed July 12, 2021.
OMIM. “BRCA1 gene – 113705.” Available from: http://www.omim.org/entry/113705. Accessed July 12, 2021.
OMIM. “BRCA2 gene – 600185.” Available from: http://www.omim.org/entry/600185. Accessed July 12, 2021.
OMIM. “BRCA1 and BRCA2 Hereditary Breast/Ovarian Cancer.” Available from: http://www.omim.org/entry/604370. Accessed July 12, 2021.
Genetests. “BRCA1 and BRCA2 Hereditary Breast/Ovarian Cancer.” Available from: http://www.ncbi.nlm.nih.gov/books/NBK1247/. Accessed July 12, 2021.
Genetests. “BRCA1 and BRCA2 Pancreatic Cancer.” Available from: http://www.ncbi.nlm.nih.gov/books/NBK1549/. Accessed July 12, 2021.
Genetests. “BRCA1 and BRCA2 Prostate Cancer.” Available from: http://www.ncbi.nlm.nih.gov/books/NBK48085/. Accessed July 12, 2021.
Genetests. “BRCA1- and BRCA2-Associated Hereditary Pancreatic Cancer.” Available from: http://www.ncbi.nlm.nih.gov/books/NBK1201/. Accessed July 12, 2021.
Genetests. “BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer.” Available from: http://www.ncbi.nlm.nih.gov/books/NBK1243/. Accessed July 12, 2021.
Genetests. “BRCA1- and BRCA2-Associated Hereditary Female Breast/Ovarian Cancer.” Available from: http://www.ncbi.nlm.nih.gov/books/NBK1242/. Accessed July 12, 2021.
Clin Genet. “BRCA1 and BRCA2 mutations in women with breast-ovarian cancer.” Available from: http://www.ncbi.nlm.nih.gov/pubmed/9579072. Accessed July 12, 2021.
Clin Genet. “BRCA1 and BRCA2 mutations in familial pancreatic cancer.” Available from: http://www.ncbi.nlm.nih.gov/pubmed/14535882. Accessed July 12, 2021.
Clin Genet. “BRCA1 and BRCA2 mutations in men with a strong family history of prostate cancer.” Available from: http://www.ncbi.nlm.nih.gov/pubmed/11140845. Accessed July 12, 2021.
Clin Genet. “BRCA1 and BRCA2 mutations in women with ovarian cancer.” Available from: http://www.ncbi.nlm.nih.gov/pubmed/8834190. Accessed July 12, 2021.
Pubmed. “BRCA1 gene.” Available from: http://www.ncbi.nlm.nih.gov/gene/672. Accessed July 12, 2021.
Pubmed. “BRCA2 gene.” Available from: http://www.ncbi.nlm.nih.gov/gene/675. Accessed July 12, 2021.
Pubmed. “BRCA1 and BRCA2.” Available from: http://www.ncbi.nlm.nih.gov/pubmed/25652987. Accessed July 12, 2021.