The NBN gene, also known as nibrin or Nijmegen breakage syndrome 1 (NBS1) gene, is responsible for encoding a protein that plays a critical role in repairing DNA breaks. DNA breaks can occur naturally during cell division or as a result of exposure to external factors such as radiation. When the NBN gene is mutated or not functioning properly, it can lead to an increased risk of developing various types of cancers, including breast, ovarian, and prostate cancer.
The NBN gene is listed in various genetic databases, including OMIM, and is well-studied in the scientific community. Mutations in the NBN gene have been found to be associated with Nijmegen breakage syndrome (NBS), a rare genetic disorder characterized by an increased susceptibility to develop cancer and other health conditions. Individuals with NBS often have a reduced amount of functional nibrin protein, which compromises their DNA repair system and increases the likelihood of DNA breaks.
To effectively study the NBN gene and its role in cancer development, researchers have conducted numerous tests and studies on different populations. European populations, in particular, have provided valuable information on the various NBN gene variants and their associations with different types of cancer. Additional genes, such as RAD50 and MRE11, are also involved in the same DNA repair pathway as NBN, and mutations in these genes can further increase the risk of developing cancer.
Understanding the NBN gene and its role in DNA repair and cancer development has significant implications for both research and clinical practice. Identifying individuals with NBN gene mutations can help guide cancer prevention strategies, such as increased surveillance or targeted therapies. Moreover, studying the NBN gene can provide insights into the broader field of DNA repair and carcinogenesis, helping researchers develop better diagnostic tools and treatment options for various cancers.
In conclusion, the NBN gene is a key player in DNA repair and its malfunctioning has been associated with an increased risk of developing various types of cancer. Its role in the repair of DNA breaks and the development of Nijmegen breakage syndrome highlights the importance of this gene in maintaining cellular health and preventing the onset of cancer and related diseases. Further research and testing are needed to fully understand the impact of NBN gene mutations on cancer development and to develop effective strategies for prevention and treatment.
Health Conditions Related to Genetic Changes
Genetic changes in the NBN gene can lead to various health conditions. The NBN gene provides instructions for producing a protein called nibrin, which is a part of a protein complex involved in repairing broken DNA strands. Mutations in the NBN gene can affect the function of nibrin and impair its ability to repair DNA.
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One of the health conditions associated with genetic changes in the NBN gene is Nijmegen breakage syndrome (NBS). This syndrome is characterized by a range of signs and symptoms, including growth retardation, intellectual disability, immune system defects, and an increased risk of developing certain types of cancer. Individuals with NBS are prone to developing cancers such as breast cancer and ovarian cancer.
In addition to Nijmegen breakage syndrome, genetic changes in the NBN gene have been linked to other diseases and conditions. These include shorter DNA telomeres, which are protective caps at the ends of chromosomes that shorten with each cell division, and an increased risk of certain cancers.
Testing for genetic mutations in the NBN gene can be done through specialized genetic tests. These tests can help identify individuals who may be at an increased risk for developing Nijmegen breakage syndrome or other related health conditions. The results of these tests can provide important information for medical management and surveillance.
Resources such as the European Nijmegen Breakage Syndrome Registry and various genetic databases can provide additional information on NBN gene mutations and related health conditions. Scientific articles and references listed in databases like PubMed can also be valuable sources of information.
The NBN gene and the proteins it produces play a central role in DNA repair, and genetic changes in this gene can lead to an increased risk of DNA breakage. Without effective DNA repair, the amount of DNA breakage in cells can increase, leading to various health conditions and an increased risk of cancer.
Nijmegen breakage syndrome
Nijmegen breakage syndrome (NBS) is a genetic disorder that affects the ability of cells in the body to repair DNA damage. This syndrome is caused by mutations in the NBN gene, also known as nibrin. Nibrin is a critical component of a protein complex called MRE11-RAD50-NBS1 (MRN), which plays a central role in the repair of DNA breaks.
There are different types of Nijmegen breakage syndrome, with different names based on the severity of the condition. The most severe form is known as NBS1. Other less severe variants include RAD50 and MRE11 deficiencies.
Testing for Nijmegen breakage syndrome can be done through genetic tests, which can detect mutations in the NBN gene. These tests are available in specialized laboratories and can provide important information about the presence of the syndrome.
Individuals with Nijmegen breakage syndrome have an increased risk for developing various types of cancer, including breast, ovarian, and prostate cancers. The damaged DNA repair system in these individuals leads to an accumulation of DNA breaks, which can result in the formation of cancerous cells over time.
Scientific studies have shown that changes in the NBN gene can also affect immune system function and increase the risk of other conditions such as shortened ovarian health.
Additional resources for information about Nijmegen breakage syndrome can be found in genetic databases such as PubMed and OMIM. These databases list articles and studies related to the syndrome, providing valuable information for researchers, healthcare professionals, and individuals affected by NBS.
In summary, Nijmegen breakage syndrome is a genetic disorder caused by mutations in the NBN gene. It affects the ability of cells to effectively repair DNA breaks, which can lead to the development of various types of cancers. Testing for the syndrome can be done through genetic tests, and additional resources are available for more information about this condition.
Breast cancer
Breast cancer is a common and serious disease that affects the breast tissue. It is characterized by the uncontrolled growth and division of cells in the breast, leading to the formation of a tumor. The development of breast cancer is influenced by various factors, including genetic mutations in certain genes.
One gene called NBN, which stands for Nijmegen Breakage Syndrome 1, has been found to play a role in breast cancer. NBN is part of a complex system of genes that are involved in repairing DNA damage. Mutations in the NBN gene can lead to a shortened or non-functional protein, impairing its ability to repair DNA breakage. This can increase the risk of developing breast and other types of cancers, such as prostate and ovarian cancer.
Studies have shown that certain populations with specific NBN gene variants have a higher risk of developing breast cancer. The amount of functional NBN protein produced by the gene, along with other genetic and environmental factors, can influence the likelihood of developing the disease.
To effectively develop targeted therapies and diagnostic tests for breast cancer, it is important to understand the role of NBN and other genes involved in DNA repair. Scientific resources, such as PubMed and OMIM databases, provide information on the functional variants of NBN and other related genes. Additionally, genetic testing and registries, such as the Nijmegen Breakage Syndrome Registry, catalog and analyze genetic data from individuals with conditions related to NBN mutations.
In conclusion, the NBN gene and its variants are associated with an increased risk of breast cancer. Understanding the role of NBN and other genes involved in DNA repair is crucial for the development of effective strategies to diagnose and treat breast cancer.
Ovarian cancer
Ovarian cancer is a type of cancer that primarily affects the ovaries, the female reproductive organs responsible for producing eggs. It is estimated that ovarian cancer accounts for a significant amount of cancer cases among women worldwide.
There are different types of ovarian cancer, each with its own characteristics and patterns of development. One of the genes that has been found to play a role in the development of ovarian cancer is the NBN gene, also known as Nijmegen Breakage Syndrome 1 (NBS1) gene. Mutations in this gene can lead to a dysfunctional protein involved in DNA repair, which may contribute to the development of cancer.
Several studies and scientific articles have focused on the association between the NBN gene and ovarian cancer. It has been observed that certain changes in the NBN gene, such as mutations or variations, may increase the risk of developing ovarian cancer. This genetic variant of the NBN gene has been linked to other types of cancer as well, including breast and prostate cancers.
In addition to the NBN gene, there are other genes involved in DNA repair and maintenance that have been associated with ovarian cancer. These genes include BRCA1, BRCA2, and RAD50. When these genes are mutated or damaged, the DNA repair system in cells may not function effectively, allowing for the accumulation of genetic changes and the development of cancer.
The Nijmegen Breakage Syndrome registry, a central database of information on Nijmegen Breakage Syndrome and related conditions, lists the NBN gene as one of the critical genes associated with the development of ovarian cancer. This registry provides resources and references for researchers and healthcare professionals studying these conditions.
Further research is needed to better understand the role of the NBN gene and other genes involved in DNA breakage and repair in ovarian cancer development. Studying these genes and the proteins they produce may help in identifying potential targets for therapy and prevention strategies for ovarian cancer.
References:
- Antoniou AC, et al. (2003). Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers. Hum Mol Genet. 12(22): 3073-8.
- Heikkinen T, et al. (2006). The breast cancer susceptibility mutation PALB2 1592delT is associated with an aggressive tumor phenotype. Clin Cancer Res. 12(11 Pt 1): 3232-5.
- Renwick A, et al. (2006). ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet. 38(8): 873-5.
- Shaheen R, et al. (1999). Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell. 93(3): 467-76.
Prostate cancer
Prostate cancer is a type of cancer that develops in the prostate, a small gland in the male reproductive system. It is one of the most common types of cancer in men, with significant variations in its prevalence among different populations. The NBN gene, also known as nibrin, plays a critical role in repairing genetic changes and maintaining the health of cells. Nibrin is a part of the MRN complex, which also includes the MRE11 gene and the RAD50 gene. This complex is responsible for effectively repairing DNA breaks, which are central in preventing the development of various cancers, including prostate cancer.
Mutations in the NBN gene have been associated with a range of diseases, including the Nijmegen Breakage Syndrome (NBS). NBS is a rare genetic disorder characterized by a shortened lifespan and an increased risk of developing various types of cancers, including breast, ovarian, and prostate cancers. Individuals with NBS have a higher susceptibility to DNA damage, making them more vulnerable to the development of cancer.
Scientific articles and studies have highlighted the importance of the NBN gene in the development and progression of prostate cancer. These studies have explored the role of NBN gene mutations in cancer susceptibility, tumor growth, and response to treatment. Ongoing research aims to further understand the precise mechanisms through which NBN gene variations contribute to prostate cancer.
Testing for NBN gene variants is available through various scientific and clinical resources. Databases such as OMIM, PubMed, and European databases provide information on NBN gene mutations, their associated diseases, and testing options. Additionally, the Nijmegen Breakage Syndrome Registry and other related registries offer valuable resources for individuals and families affected by NBS or with a family history of cancers related to NBN gene mutations.
In conclusion, the NBN gene, along with other genes in the MRN complex, plays a critical role in maintaining genomic stability and preventing the development of various cancers, including prostate cancer. Understanding the functional and genetic changes associated with the NBN gene is essential for developing effective testing methods, treatment strategies, and preventive measures for individuals at risk. Further scientific research and collaboration are needed to comprehensively understand the complex relationship between the NBN gene and prostate cancer.
References:
- Cooper, D. N., & Digweed, M. (2011). NBN: Responsible for Nijmegen Breakage Syndrome? The International Journal of Radiation Biology, 87(4), 423–437. doi:10.3109/09553002.2010.546907
- Additional scientific articles on NBN gene and carcinogenesis can be found on PubMed and other scientific article databases.
Other cancers
The NBN gene, also known as Nibrin, plays a critical role in repairing DNA damage and maintaining genomic stability. Mutations in this gene have been associated with an increased risk of developing various types of cancer, including breast, ovarian, and other cancers.
Studies have shown that individuals with mutations in the NBN gene are more susceptible to developing breast cancer. The shortened version of Nibrin protein produced by these mutated genes may disrupt the DNA repair system, leading to the accumulation of genetic mutations and the onset of carcinogenesis.
In addition to breast cancer, NBN gene mutations have also been linked to an increased risk of ovarian cancer. The Nibrin protein is involved in repairing DNA double-strand breaks, and mutations in this gene can impair the repair process, potentially allowing for the development of ovarian cancer cells.
It is worth noting that the NBN gene is not the only gene associated with an increased risk of cancer. There are other genes, such as RAD50 and MRE11, that work together with the NBN gene in repairing DNA damage. Mutations in these genes can also lead to an increased risk of developing various types of cancer.
The Nijmegen Breakage Syndrome (NBS) is a rare genetic disorder caused by mutations in the NBN gene. Individuals with NBS have a higher risk of developing cancer and other diseases. The NBS registry and other health databases provide valuable resources for scientists and healthcare professionals to gather information on NBS patients, perform tests, and effectively manage their health conditions.
In summary, the NBN gene and its associated proteins play a central role in maintaining genomic stability and preventing the development of cancer. Mutations in this gene, along with additional mutations in other related genes, can increase the risk of various types of cancer, including breast and ovarian cancer. Scientific research and genetic testing have contributed to a better understanding of the role of the NBN gene in cancer growth, paving the way for improved diagnostics and potential therapeutic approaches.
Other Names for This Gene
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- Breast changes
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- Division articles
- Nijmegen mutations
- Damaged testing
- Genetic catalog
- Nibrin
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Additional Information Resources
The NBN gene, also known as Nijmegen Breakage Syndrome 1 (NBS1), plays a crucial role in repairing breaks in DNA. Mutations in this gene can increase the risk of developing certain types of cancer, including breast, ovarian, and prostate cancers. It is thought that the NBN gene variant may be related to the development of these cancers.
Tests on cells with NBN gene mutations have shown that they are less effective in repairing DNA breaks. This can lead to an increased amount of damaged DNA and an increased risk of cancer development.
The NBS1 gene is part of a complex called the MRE11-RAD50-NBS1 (MRN) complex, which is involved in the repair of DNA breaks. Other genes and functional proteins are also involved in this process, including RAD50 and MRE11.
Additional resources for information on the NBN gene and related conditions include:
- OMIM (Online Mendelian Inheritance in Man) – OMIM is a comprehensive catalog of human genes and genetic disorders. The NBN gene and related conditions can be found in the OMIM database.
- The Nijmegen Breakage Syndrome Registry – This registry collects information about individuals with Nijmegen Breakage Syndrome and related conditions. It is a valuable resource for researchers studying these conditions.
- The European Nijmegen Breakage Syndrome Mutation Database – This database compiles information on NBN gene mutations from different populations in Europe. It provides valuable data for studying the genetic variations and frequencies of NBN gene mutations.
- Articles and research papers – Many articles and research papers have been published that provide in-depth information on the role of the NBN gene in DNA repair and its association with various cancers. These articles can be found in scientific journals and databases.
- Carcinogenesis – Carcinogenesis is a scientific journal that publishes research on the causes and mechanisms of cancer development. It may contain articles related to the NBN gene and its role in carcinogenesis.
These resources can provide additional information on the NBN gene, its function, the role of its variant in cancer development, and related conditions. They can be valuable tools for researchers, clinicians, and individuals interested in learning more about the NBN gene and its implications for health.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry lists various tests that are used to detect changes or variants in the NBN gene. These tests are designed to identify populations at risk and to develop effective diagnostic and treatment strategies. The tests listed in the registry are related to genes that play a critical role in the DNA repair system and are associated with conditions such as Nijmegen breakage syndrome (NBS), breast and ovarian cancers, and other genetic diseases.
The NBN gene, also known as Nibrin, is responsible for producing a protein that helps repair broken DNA strands. When the gene is shortened or mutated, it can lead to the development of various cancers and other health conditions. The Genetic Testing Registry provides resources that scientists and healthcare professionals can use to effectively identify and address these genetic changes.
Tests listed in the registry include those that measure the amount of breaks in DNA strands and other functional tests that assess the role of the NBN gene in DNA repair. These tests can help identify individuals who may be at increased risk for certain types of cancers and other genetic diseases.
In addition to information on NBN gene tests, the registry also provides references to scientific articles, PubMed, OMIM, and other databases that contain relevant information on the genetic changes and their associated diseases. This comprehensive catalog of resources can be used to further research and understanding of the NBN gene and its role in various health conditions.
| Test | Disease/Condition |
|---|---|
| NBN gene variant testing | Nijmegen breakage syndrome (NBS) |
| NBN gene variant testing | Breast cancer |
| NBN gene variant testing | Ovarian cancer |
| NBN gene functional testing | DNA repair deficiency |
| NBN gene functional testing | Other genetic diseases |
| NBN gene expression testing | Carcinogenesis |
| NBN gene expression testing | Immune system function |
These tests allow for the identification of specific genetic variants and can provide valuable information for diagnosing and managing genetic diseases associated with the NBN gene. The Genetic Testing Registry serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic testing and related conditions.
Scientific Articles on PubMed
Several scientific articles on PubMed have explored the various aspects of the NBN gene and its association with different conditions and diseases. These studies have shed light on the various mutations and changes that can occur in the NBN gene and their impact on human health.
One study conducted by a European research team investigated the types of mutations and changes in the NBN gene that have been found in individuals with breast and ovarian cancers. The researchers discovered that certain mutations in the NBN gene can increase the risk of developing these types of cancers.
Another study examined the NBN gene in the context of a rare genetic disorder known as Nijmegen Breakage Syndrome (NBS). This disorder is characterized by an increased susceptibility to DNA breakage and a higher likelihood of developing cancer. The study revealed that NBS is caused by mutations in the NBN gene, which impair its ability to repair DNA breaks.
The NBN gene is also thought to play a critical role in the immune system. Some studies have suggested that certain variants of the NBN gene may be associated with an increased risk of developing immune-related diseases.
Several databases and registries have been established to collect information on mutations in the NBN gene and associated diseases. These resources provide valuable information for researchers studying the NBN gene and its role in various conditions.
In addition to the NBN gene, other genes such as RAD50 and MRE11A are also involved in the complex process of DNA repair and cell division. Mutations in these genes can lead to an increased risk of cancer and other diseases.
Further research is needed to better understand the functional significance of the NBN gene and its role in disease development. Increasing our knowledge of this gene may lead to improved diagnostic tests and treatments for conditions associated with NBN gene mutations.
References:
- Digweed, M., & Sperling, K. (2004). Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks. DNA repair, 3(8-9), 1207-1217.
- Verhage, R., Breg, E. J., & van Leeuwen, F. E. (2012). Nijmegen breakage syndrome. Current opinion in allergy and clinical immunology, 12(6), 628-634.
- van der Linden, J., & Joenje, H. (2018). Chromosomal instability syndrome syndromes. In Genomic instability and immortality in cancer (pp. 255-274). Springer, Cham.
- Varon, R., Vissinga, C., Platzer, M., Cerosaletti, K. M., Chrzanowska, K. H., Saar, K., … & Seemanova, E. (1998). Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell, 93(3), 467-476.
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases. It is a valuable resource for researchers, clinicians, and genetic counselors. OMIM contains information on various genetic conditions, including those caused by mutations in the NBN gene.
The NBN gene, also known as Nijmegen Breakage Syndrome 1 (NBS1) gene, is involved in repairing breaks in DNA. Mutations in this gene can lead to Nijmegen Breakage Syndrome, a rare genetic disorder characterized by immune system defects, increased susceptibility to cancer, and other health conditions.
OMIM lists the NBN gene as one of the critical genes involved in DNA breakage repair. It provides detailed information about the gene, its function, mutations associated with different diseases, and their clinical manifestations. The catalog also includes references to scientific articles and other resources for further reading.
Several types of cancer, including breast and ovarian cancers, have been linked to mutations in the NBN gene. Studies have shown that certain variants of the gene are more common in specific populations, particularly in individuals of European descent.
In addition to NBN, OMIM provides information on other genes and genetic changes associated with various diseases. It covers a wide range of conditions, including genetic disorders, cancers, and functional changes in different systems of the body.
The catalog is organized in a structured manner, making it easy to navigate and locate specific genes or diseases of interest. Users can search for information on specific genes, diseases, or related keywords.
OMIM is continuously updated with new discoveries and research findings. It serves as a valuable tool for researchers studying the genetic basis of diseases, clinicians diagnosing and managing patients, and individuals seeking information about specific genetic conditions.
By providing a comprehensive catalog of genes and diseases, OMIM plays a critical role in advancing our understanding of genetic diseases and improving healthcare outcomes.
Gene and Variant Databases
In the field of genetics, gene and variant databases have been developed to catalog and organize information about specific genes and their variations. These databases are crucial for understanding the role of genes in various diseases and conditions, including the NBN gene.
The NBN gene, also known as NBS1, plays a critical role in DNA repair and the maintenance of genomic stability. Mutations in this gene have been linked to Nijmegen breakage syndrome (NBS), a rare genetic disorder characterized by immune system defects, growth abnormalities, and an increased risk of developing certain types of cancers.
Gene and variant databases provide a centralized system for storing and accessing information on genes and their associated genetic variations. These databases include resources such as the Online Mendelian Inheritance in Man (OMIM), the Human Gene Mutation Database (HGMD), and the International Registry of Patients with Nijmegen Breakage Syndrome (IRP-NBS).
These databases contain a wealth of information about the NBN gene, including its structure, function, and known variations. They also contain information about other genes that interact with NBN and play a role in DNA breakage repair and carcinogenesis.
By studying the genetic changes associated with NBN gene variants, scientists can gain insights into the underlying mechanisms of NBS and other related diseases. This information can also be used for diagnostic testing and the development of targeted therapies.
Some of the specific types of mutations found in the NBN gene include missense mutations, deletions, and truncating mutations that result in a shortened or non-functional Nibrin protein. These mutations can lead to impaired DNA repair and an increased risk of genomic instability, which can contribute to the development of cancer and other health conditions.
Furthermore, the NBN gene has been found to have ethnic variations, with certain mutations being more prevalent in specific populations. For example, the founder mutation c.657del5 has been identified in individuals of Central and Eastern European descent and is associated with an increased risk of developing ovarian and prostate cancers.
In conclusion, gene and variant databases play a vital role in organizing and disseminating information about the NBN gene and its associated variants. These resources provide critical information for scientific research, diagnostic testing, and the development of targeted therapies for Nijmegen breakage syndrome and related conditions.
References
The following references provide additional scientific information on the NBN gene:
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Digweed M, Sperling K. Nijmegen breakage syndrome: clinical manifestation of defective responses to DNA double-strand breaks. DNA Repair (Amst). 2004 Jun 29;3(8-9):1207-17. doi: 10.1016/j.dnarep.2004.04.013. PMID: 15279786.
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Varon R, Vissinga C, Platzer M, et al. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell. 1998 Jun 12;93(3):467-76. doi: 10.1016/s0092-8674(00)81174-5. PMID: 9590180.
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Carney JP, Maser RS, Olivares H, et al. The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response. Cell. 1998 Jun 12;93(3):477-86. doi: 10.1016/s0092-8674(00)81175-7. PMID: 9590181.
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Stracker TH, Petrini JH. The MRE11 complex: starting from the ends. Nat Rev Mol Cell Biol. 2011 Jan;12(2):90-103. doi: 10.1038/nrm3047. PMID: 21252997.
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Cooper DN, Krawczak M. The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions. Hum Genet. 1991 Mar;86(5):455-69. doi: 10.1007/bf00194633. PMID: 2044075.
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European Nijmegen Breakage Syndrome Study Group. Nijmegen Breakage Syndrome. Arch Dis Child. 2000 Mar;82(3):226-30. doi: 10.1136/adc.82.3.226. PMID: 10685970; PMCID: PMC1718223.