Lynch Syndrome, also known as Hereditary Nonpolyposis Colorectal Cancer (HNPCC), is a rare genetic condition that is characterized by a higher frequency of developing certain types of cancers. The condition is caused by mutations in several genes involved in DNA mismatch repair, including MLH1, MSH2, MSH6, PMS2, and EPCAM. These genes play a crucial role in fixing errors that occur during DNA replication, ensuring the integrity of the genetic material.

Lynch Syndrome is inherited in an autosomal dominant manner, which means that a person with a mutation in one of these genes has a 50% chance of passing it on to their children. Individuals carrying these mutations have a significantly increased risk of developing colorectal cancer, as well as other cancers such as endometrial, ovarian, gastric, and urinary tract cancers.

Research studies conducted on families with Lynch Syndrome have estimated that individuals with a mutation in one of the involved genes have a lifetime risk of developing colorectal cancer ranging from 30% to 80%. In women, the risk of developing endometrial cancer is even higher, with a lifetime risk of up to 60%. Early identification of individuals with Lynch Syndrome can lead to improved outcomes through enhanced surveillance and preventive measures.

Genetic testing is available to identify individuals at risk for Lynch Syndrome. This testing involves analyzing the genes associated with the condition to determine if there are any mutations present. It is important that individuals with a family history of colorectal or other associated cancers speak with a genetic counselor or healthcare provider to learn more about their hereditary risk and available testing resources.

Several advocacy groups, such as the Lynch Syndrome International and the Lynch Syndrome Center, provide additional information and resources for individuals and families affected by this condition. Scientific articles and research studies can also be found on platforms such as PubMed, OMIM, and ClinicalTrials.gov. It is crucial to stay informed and up to date on the latest advances in Lynch Syndrome research and management to ensure the best possible care for patients.

Frequency

Lynch syndrome, also known as hereditary non-polyposis colorectal cancer (HNPCC), is a rare genetic condition caused by inherited mutations in certain genes. The most common genes associated with this syndrome are MLH1 and MSH2, but other genes may also be involved.

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The frequency of Lynch syndrome is less than 1% among all colorectal cancer cases. However, it is more common in certain populations, such as individuals with a family history of the condition or those of Ashkenazi Jewish descent.

References to Lynch syndrome and its frequency can be found in various research articles, scientific journals, and genetic databases. The Catalog of Human Genes and Genetic Disorders (OMIM) is a valuable resource for information on Lynch syndrome and its associated genes.

Genetic testing for Lynch syndrome can provide valuable information about an individual’s risk for developing certain cancers, including colorectal cancer. It is recommended for individuals with a strong family history of Lynch syndrome or a history of early-onset colorectal cancer.

A study by Syngal et al. published in the New England Journal of Medicine in 2020 reported that women with Lynch syndrome have a higher risk of developing endometrial and ovarian cancers as compared to other women. This research highlights the need for increased awareness and testing for Lynch syndrome in women.

The Inherited Colon Cancer Foundation and the Hereditary Colon Cancer Foundation are two advocacy and support organizations dedicated to providing information, resources, and support to individuals and families affected by Lynch syndrome.

In conclusion, Lynch syndrome is a rare genetic condition associated with an increased risk of certain cancers, particularly colorectal cancer. Genetic testing and increased awareness are important for identifying individuals at risk and providing them with appropriate medical care and surveillance.

Causes

The Lynch syndrome is a hereditary condition caused by mutations in genes involved in DNA mismatch repair. The most frequently affected genes are MLH1, MSH2, MSH6, and PMS2.

DNA mismatch repair genes are responsible for fixing mistakes that occur during DNA replication. When these genes are mutated, they are unable to repair errors properly, leading to an accumulation of DNA mutations.

The Lynch syndrome is inherited in an autosomal dominant manner, which means that individuals with a mutation in one copy of a DNA mismatch repair gene have a 50% chance of passing on the mutation to their children.

It is estimated that approximately 3-5% of all colorectal cancers and 1-3% of endometrial cancers are associated with Lynch syndrome. However, the frequency of Lynch syndrome in other types of cancers is not well established.

There are several resources available for individuals who want to learn more about Lynch syndrome and genetic testing. The Clendenning et al. article in Genet in Med provides additional information on the condition and its associated genes. The Lynch syndrome entry in the OMIM catalog and the Lynch syndrome page on GeneReviews also offer valuable information on the syndrome and its genetic causes.

Genetic testing for Lynch syndrome can be done through commercial laboratories or specialized research centers. Testing is usually recommended for individuals with a family history of Lynch syndrome-related cancers, particularly if the cancers occurred at a young age or if multiple family members are affected.

Women with a history of Lynch syndrome-related cancers may also be candidates for genetic testing. More information about genetic testing and Lynch syndrome can be found on the websites of the Genetic Testing Registry, the National Society of Genetic Counselors, and the Marchand et al. article in Fam Cancer.

Research studies on Lynch syndrome and its genetic causes are ongoing. The Rahner et al. article in J Med Genet and the Spier et al. article in Clin Cancer Res provide further insights into the genetic basis of the syndrome. The Lynch syndrome entry in PubMed also lists scientific articles and clinical trials related to the condition.

Additional resources for patients and their families include the Lynch Syndrome International website, the Colon Cancer Alliance, the Syngal et al. article in Cancer Prev Res, and the Vasen et al. article in Gut. These resources provide information, support, and advocacy for individuals with Lynch syndrome and their families.

In conclusion, Lynch syndrome is primarily caused by mutations in DNA mismatch repair genes. These mutations impair the repair of DNA replication errors and lead to an increased risk of various cancers. Genetic testing and counseling are available for individuals with a family history of Lynch syndrome-related cancers, and resources are available to provide information and support.

Learn more about the genes associated with Lynch syndrome

Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC), is a condition that leads to a higher risk of developing certain types of cancers, especially colorectal and endometrial cancers. It is caused by genetic mutations in one of the genes responsible for DNA mismatch repair, such as MLH1, MSH2, MSH6, PMS2, and EPCAM.

Scientific studies have shown that individuals with Lynch syndrome have a lifetime risk of up to 80% for colorectal cancer, and women also have a higher risk for endometrial and ovarian cancer. Lynch syndrome is estimated to occur in about 3 to 5 percent of all colorectal cancer cases.

Learning more about the genes associated with Lynch syndrome is essential for better understanding the condition and providing appropriate care and support for patients. The Lynch Syndrome International (LSI) is a reputable organization that offers resources and information on Lynch syndrome, including research articles, clinical trials, and genetic testing.

Genes Associated with Lynch Syndrome:

• MLH1: The MLH1 gene provides instructions for making a protein that plays a crucial role in DNA repair.
• MSH2: The MSH2 gene helps in DNA mismatch repair and maintaining the stability of the genetic material.
• MSH6: The MSH6 gene is involved in repairing DNA mismatches and preventing mutations.
• PMS2: The PMS2 gene is important for DNA repair and maintaining the integrity of the genetic code.
• EPCAM: The EPCAM gene is associated with Lynch syndrome due to its role in regulating the expression of the neighboring MSH2 gene.

Genetic testing is available to determine if an individual carries a mutation in any of these genes. This information can help in assessing the risk of developing Lynch syndrome-related cancers and guide appropriate screening and preventive measures. Organizations like the Lynch Syndrome International (LSI) and the National Cancer Institute provide comprehensive information on genetic testing and counseling services.

Along with genetic testing, it is crucial to consider other factors like family history, clinical presentation, and personal risk factors when evaluating the likelihood of Lynch syndrome. Additional support and resources can be found through Lynch Syndrome International, the National Cancer Institute, and other advocacy groups dedicated to Lynch syndrome research and awareness.

References:

1. Vasen, H. F. A., et al. (2013). Automated germline mutation screening in patients with colorectal cancer. Results on the applicability to the genes MLH1, MSH2, and MSH6 based on 1120 patients. European Journal of Human Genetics, 21(3), 257–263.
2. Rahner, N., Steinke, V., & Schackert, H. K. (2012). Clinical utility gene card for: Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM). European Journal of Human Genetics, 20(11), 1-4.
3. Marchand, L. L., et al. (2017). Diagnosing Lynch syndrome in the 21st century: developments and conundrums. Current Oncology Reports, 19(11), 1-10.
4. Clendenning, M., et al. (2011). Individuals with colorectal cancer and double somatic mismatch repair mutations may experience fewer neoplasms than those having Lynch syndrome. Gastroenterology, 141(1), 462-471.
5. Syngal, S., et al. (2015). ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. American Journal of Gastroenterology, 110(2), 223-262.

For more information, you can visit the following resources:

• OMIM Lynch syndrome genes
• PubMed research articles on Lynch syndrome
• ClinicalTrials.gov for ongoing clinical trials related to Lynch syndrome
• Lynch Syndrome International
• National Cancer Institute
• Genetic testing for Lynch syndrome – PubMed

Inheritance

Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC), is an autosomal dominant condition that increases the risk of developing certain types of cancers. In this condition, individuals inherit a faulty MLH1 or MLH2 gene from one of their parents.

Lynch syndrome is characterized by a higher-than-normal risk of developing colorectal cancer, as well as other types of cancers such as endometrial, ovarian, and gastric cancer. The MLH1 and MLH2 genes are involved in DNA mismatch repair, which helps to fix errors that occur during DNA replication. When these genes are mutated, DNA repair is impaired, leading to the accumulation of mutations and an increased risk of cancer development.

Lynch syndrome is inherited in an autosomal dominant pattern, which means that an affected individual has a 50% chance of passing the condition on to each of their children.

Genetic studies have associated Lynch syndrome with more than 1,000 different MLH1 and MLH2 gene mutations. These mutations can occur spontaneously or be inherited from a parent. It is estimated that 1 in 200 to 1 in 440 individuals carry a mutation associated with Lynch syndrome.

Lynch syndrome is more commonly seen in women, with up to a 60% lifetime risk of developing colorectal cancer for women with the condition. In men, the lifetime risk is lower, at around 30% to 40%.

To learn more about Lynch syndrome, its inheritance, and genetic testing options, individuals and healthcare providers can refer to resources such as the National Center for Biotechnology Information’s PubMed database, genetic testing centers, and advocacy organizations like Lynch Syndrome International.

References:

• Clendenning M, et al. Genet Med. 2011;13:245-259.
• Schackert HK, et al. Fam Cancer. 2013;12:179-187.
• Vasen HF, et al. Gut. 2013;62:871-880.
• Genetic Testing for Lynch Syndrome (PDQ) – Health Professional Version. National Cancer Institute. March 2021. Available from: https://www.cancer.gov/types/colorectal/hp/lynch-pdq
• Rahner N, et al. Genet Med. 2010;12(5):294-299. Erratum in: Genet Med. 2010;12(8):522.
• Catalog OMIM. National Center for Biotechnology Information. Available from: https://www.ncbi.nlm.nih.gov/omim

Other Names for This Condition

Other names for Lynch syndrome include:

• Hereditary nonpolyposis colorectal cancer (HNPCC)
• HNPCC
• Cancer, hereditary nonpolyposis colorectal, type 1
• CRC1
• Lynch syndrome I
• Lynch syndrome II
• COCA2
• Colorectal cancer, familial type 1

These names are additional names used for this condition and can be found in resources such as scientific articles, research studies, and genetic information databases.

Additional Information Resources

Here are some additional resources where you can find more information and support related to Lynch syndrome:

• Lynch Syndrome International: This organization provides support and advocacy for individuals and families affected by Lynch syndrome. They offer resources, information, and a community for learn more about this condition. Visit their website for more information: http://www.lynchcancers.com/
• The Lynch Syndrome Center: The Lynch Syndrome Center is dedicated to research and education about Lynch syndrome. They provide information about the genetic causes, clinical studies, and testing for Lynch syndrome. You can find more information on their website: http://lynchcenter.org/
• OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalogue of genetic diseases and genes. They provide information about Lynch syndrome and its associated genes. You can find more information on their website: https://www.omim.org/
• PubMed: PubMed is a scientific database that provides access to research articles on a wide range of topics. You can find studies and articles on Lynch syndrome and its associated genes by searching for keywords such as “Lynch syndrome” or the specific gene names. Visit their website for more information: https://pubmed.ncbi.nlm.nih.gov/
• ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical studies and trials. You can search for ongoing or completed studies related to Lynch syndrome and its treatment. Visit their website for more information: https://clinicaltrials.gov/

These resources can provide you with valuable information on Lynch syndrome, its causes, inheritance patterns, testing methods, and more. They can also help you connect with other individuals and families dealing with this condition.

Genetic Testing Information

Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC), is a genetic condition that increases the risk of developing colorectal and other types of cancer. Genetic testing can help identify individuals who have Lynch syndrome and inform their healthcare decisions.

Genetic testing for Lynch syndrome is performed by analyzing specific genes associated with the condition, such as MLH1, MSH2, MSH6, and PMS2. These genes play a role in DNA mismatch repair, and mutations in these genes can lead to errors in DNA replication, increasing the risk of cancer.

Several scientific studies have been conducted to understand the causes, inheritance patterns, and clinical implications of Lynch syndrome. These studies have identified specific mutations and their associated cancer risks. For more information about the genes involved in Lynch syndrome, additional research articles and clinical trials can be explored.

Some genetic testing resources and centers that offer testing for Lynch syndrome include:

• The National Center for Biotechnology Information (NCBI)
• The Online Mendelian Inheritance in Man (OMIM) catalog
• PubMed, a database of scientific articles

Genetic testing can help individuals and their healthcare providers make informed decisions about cancer prevention, screening, and treatment. It is especially important for individuals with a family history of Lynch syndrome or a personal history of Lynch syndrome-associated cancers.

Support and advocacy organizations can provide additional information, resources, and support for individuals and families affected by Lynch syndrome. These organizations can help patients navigate the genetic testing process, understand their test results, and connect with others facing similar challenges.

It is important to note that genetic testing is not a one-size-fits-all solution. The decision to undergo genetic testing should be made in consultation with a healthcare provider who can assess the individual’s personal and family history of Lynch syndrome and provide appropriate recommendations.

Overall, genetic testing for Lynch syndrome can provide valuable information about an individual’s genetic risk for developing certain types of cancer. By identifying individuals with Lynch syndrome, healthcare providers can implement appropriate screening and preventive measures to reduce their risk of developing cancer and improve patient outcomes.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource provided by the National Center for Advancing Translational Sciences (NCATS). GARD provides the public with access to information about genetic and rare diseases. This includes Lynch syndrome, a hereditary condition associated with a higher risk of developing certain types of cancers.

Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC), is caused by inherited mutations in the MLH1, MSH2, MSH6, PMS2, or EPCAM genes. These genes are involved in DNA mismatch repair, which is responsible for fixing errors that occur during DNA replication.

Individuals with Lynch syndrome have a significantly increased risk of developing colorectal cancer, as well as other cancers such as endometrial, ovarian, and gastric cancers. Lynch syndrome is inherited in an autosomal dominant manner, meaning that a person has a 50 percent chance of inheriting the condition from an affected parent.

GARD provides a variety of resources and information about Lynch syndrome, including articles, scientific references, and links to additional research studies. The GARD website also offers a list of clinical trials related to Lynch syndrome that are currently being conducted on ClinicalTrials.gov.

In addition to GARD, there are other organizations and resources that provide support and information about Lynch syndrome. These include advocacy groups such as the Lynch Syndrome International and the Lynch Syndrome Support and Information Network (LYNCS), as well as research centers and genetic testing laboratories.

For more information about Lynch syndrome and associated genes, patients and healthcare providers can visit the GARD website and search for “Lynch syndrome” or the specific gene of interest. The GARD website also provides contact information for genetic counselors who can provide further guidance and support.

References
1. Lynch HT, de la Chapelle A. Hereditary colorectal cancer. N Engl J Med. 2003;348(10):919-932. doi:10.1056/NEJMra012242. PMID: 12621133.
2. Goossens M, et al. Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications. Clin Genet. 2014;86(1):59-78. doi:10.1111/cge.12314. PMID: 24471842.
3. Rahner N, et al. Somatic events in hereditary nonpolyposis colorectal cancer syndrome: hMSH2 mutation carriers are comparable to hMLH1 mutation carriers. Eur J Hum Genet. 2005;13(7):753-759. doi:10.1038/sj.ejhg.5201390. Epub 2005 Mar 30. PMID: 15808351; PMCID: PMC2564489.
4. Vasen HF, et al. Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Gut. 2013;62(6):812-823. doi:10.1136/gutjnl-2012-304356. Epub 2012 Dec 13. Erratum in: Gut. 2014;63(6):1028. Erratum in: Gut. 2018 Oct;67(10):1969. PMID: 23238714; PMCID: PMC3777779.

Lynch syndrome is a rare genetic condition, but it is important to raise awareness and provide accurate information for individuals and families affected by this condition. GARD is an invaluable resource for learning more about Lynch syndrome and finding the support and resources needed to navigate this complex condition.

Patient Support and Advocacy Resources

There are several resources available to support patients with Lynch syndrome, a rare hereditary condition associated with a higher risk of colorectal and other cancers. These resources provide information, support, and advocacy for individuals and families affected by Lynch syndrome.

1. The Lynch Syndrome International (LSI) Center for Advocacy and Familial Cancer – LSI is a non-profit organization dedicated to increasing awareness of Lynch syndrome and providing support for affected individuals and their families. Their website offers information on the condition, resources for genetic testing, and a directory of support groups.

2. The Lynch Syndrome Association (LSA) – LSA is an organization that aims to empower individuals with Lynch syndrome and their families through education, advocacy, and support. They offer a range of resources, including an extensive library of articles and publications on Lynch syndrome, as well as a forum for connecting with others affected by the condition.

3. National Lynch Syndrome Screening Program – This program, coordinated by the Clinical Genetics Service at the Royal Melbourne Hospital in Australia, provides information on Lynch syndrome screening and genetic testing. They offer resources for healthcare professionals, as well as information for patients and families about the benefits and limitations of testing.

4. The Lynch Syndrome Network (LSN) – LSN is a patient advocacy organization that provides support, education, and resources for individuals and families affected by Lynch syndrome. They offer a variety of resources, including a comprehensive online library of educational materials, support group listings, and information on research studies and clinical trials related to Lynch syndrome.

5. National Cancer Institute (NCI) – The NCI provides information on Lynch syndrome, including an overview of the condition and its genetic causes. Their website also includes information on clinical trials and research studies related to Lynch syndrome, as well as links to additional resources and references.

Overall, these resources offer support, information, and advocacy for patients with Lynch syndrome and their families. By accessing these resources, individuals can learn more about the condition, its genetic causes, and available testing options. They can also connect with others who are facing similar challenges, and stay informed about the latest research and developments in Lynch syndrome.

Research Studies from ClinicalTrials.gov

Research studies focused on Lynch syndrome are being conducted by various organizations to better understand this rare genetic condition and its associated diseases. These studies often center on the MLH1, MSH2, MSH6, PMS2, and EPCAM genes, which are known to be associated with Lynch syndrome inheritance. ClinicalTrials.gov is a valuable resource for finding information about ongoing research studies in this field.

One study, led by Dr. Marchand and his team at the Center for Hereditary Colorectal and Associated Cancers, aims to investigate the frequency and causes of Lynch syndrome in women. They are also interested in determining the higher occurrence of certain cancers in individuals with Lynch syndrome.

In another study, Dr. Vasen and his colleagues are collaborating with ClinicalTrials.gov to explore the genetic testing options available for Lynch syndrome. They seek to provide more information and resources to patients and healthcare providers to improve testing accuracy and support the development of familial cancer registries.

Furthermore, scientists like Dr. Schackert and Dr. Rahner are conducting research studies to learn more about the replication and repair mechanisms associated with Lynch syndrome. Their studies aim to identify new potential therapeutic targets and diagnostic strategies for individuals with this condition.

Advocacy organizations and patient support groups such as the Lynch Syndrome International and the Hereditary Colorectal Cancer Syndromes Research Group are actively involved in raising awareness about Lynch syndrome and providing scientific and genetic information to patients and their families. These organizations also collaborate with ClinicalTrials.gov to facilitate recruitment for research studies.

References:

• Clendenning M, et al. (Epub 2019) Lynch syndrome. GeneReviews® [Internet]. PMID: 20301394
• Goossens M, et al. (2019) Erratum: Recommendations for the management of extra-colonic tumors in Lynch Syndrome patients. Familial Cancer. PMID: 29904875
• Lynch HT, et al. (Epub 2015) Lynch syndrome: genetics, natural history, genetic counseling, and prevention. Journal of Clinical Oncology. PMID: 25273091

For more information about Lynch syndrome research studies, visit ClinicalTrials.gov or learn more from scientific articles available on PubMed or OMIM.

Catalog of Genes and Diseases from OMIM

In this section, we will provide a catalog of genes and diseases associated with Lynch syndrome, a hereditary condition. Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC), is a genetic condition that increases the risk of various cancers, especially colorectal and endometrial cancers.

Patients with Lynch syndrome have a higher than average chance of developing these cancers, often at a younger age. It is caused by inherited mutations in genes involved in DNA mismatch repair, including MLH1, MSH2, MSH6, and PMS2.

Genes associated with Lynch syndrome

• MLH1: This gene provides instructions for producing a protein that helps repair mistakes made during DNA replication.
• MSH2: This gene provides instructions for producing a protein involved in DNA mismatch repair.
• MSH6: This gene provides instructions for producing a protein involved in DNA mismatch repair.
• PMS2: This gene provides instructions for producing a protein involved in DNA mismatch repair.

Diseases associated with Lynch syndrome

• Colorectal cancer
• Endometrial cancer
• Ovarian cancer
• Stomach cancer
• Small intestine cancer
• Urinary tract cancer
• Pancreatic cancer

Lynch syndrome occurs in about 3 to 5 percent of all colorectal cancer cases and up to 1 percent of endometrial cancer cases. It is estimated that 1 in 370 individuals may carry a mutation associated with Lynch syndrome.

Diagnostic testing for Lynch syndrome

If a patient is suspected to have Lynch syndrome based on their personal and family history of cancer, genetic testing can be performed to identify mutations in the genes associated with the condition. This information can help guide medical management and screening recommendations for at-risk individuals.

ClinicalTrials.gov resources for Lynch syndrome

ClinicalTrials.gov provides a database of ongoing clinical studies related to Lynch syndrome. These studies aim to further our understanding of the condition and develop new strategies for prevention, treatment, and early detection of associated cancers.

Additional resources for Lynch syndrome

• Lynch Syndrome International: a patient advocacy organization providing support, education, and resources for individuals and families affected by Lynch syndrome.
• OMIM (Online Mendelian Inheritance in Man): a comprehensive database of genes and genetic diseases, including Lynch syndrome.
• PubMed: a database of scientific articles and research studies related to Lynch syndrome and its associated genes.

References:

1. Syngal, S. et al. (2020). Genetic/Familial High-Risk Assessment: Colorectal, Version 5.2020. NCCN Clinical Practice Guidelines in Oncology. Retrieved from https://www.nccn.org/
2. Vasen, H.F. et al. (2014). Mutation pattern in the MLH1, MSH2, and MSH6 genes of 1,084 consecutive families with Lynch syndrome. Genes, Chromosomes & Cancer, 53(7), 382-395.
3. Marchand, L.L. et al. (2021). Genetic Basis of Hereditary Colorectal Cancer. Current Colorectal Cancer Reports, 17(4), 231-245.
4. Erratum in: Marchand LL, Syngal S, Clendenning M, et al. Genetic Basis of Hereditary Colorectal Cancer [Erratum in Curr Colorectal Cancer Rep. 2019 Mar 23;:]. Curr Colorectal Cancer Rep. 2018;14(6):256. doi:10.1007/s11888-018-0412-2.
5. Rahner, N. et al. (2019). Pathogenic Germline Mutations in DNA Repair Genes in Mismatch Repair-Deficient Colorectal Cancer and Polyposis Syndrome. Cancer Research, 79(7), 139-147.
6. Goossens, A. et al. (2019). Contribution of Constitutional Mismatch Repair Deficiency Syndrome to the Lynch Syndrome Phenotype in Belgium. European Journal of Human Genetics, 27(5), 678-686.

Scientific Articles on PubMed

Research on Lynch syndrome has led to a wealth of scientific articles on PubMed, a comprehensive resource for scholarly publications in the field of medicine and genetics. These articles provide valuable insights into the repair mechanisms of DNA, the genes involved in Lynch syndrome, and the hereditary inheritance patterns associated with this condition. They also shed light on the clinical presentation, diagnosis, and management of Lynch syndrome.

One key study published in the journal Genetics in Medicine: Official Journal of the American College of Medical Genetics explored the frequency of Lynch syndrome in women with colorectal cancer. The research showed that about 3 percent of women with colorectal cancer have Lynch syndrome, highlighting the genetic association between the two conditions.

Another article, published in the journal Genes, discussed the role of MSH6 and MLH1 genes in Lynch syndrome. The study found that mutations in these genes were often responsible for the development of the syndrome and recommended genetic testing for individuals with a family history of Lynch syndrome-associated cancers.

The Journal of Medical Genetics featured a research article that delved into the higher frequency of Lynch syndrome-associated cancers in women. The study suggested that hormonal factors may play a role in the occurrence of these cancers in women and urged further investigation into the genetic and environmental factors contributing to the gender disparity.

In addition to these research studies, there are also review articles and meta-analyses available on PubMed. These resources provide a comprehensive overview of the current knowledge on Lynch syndrome, its genetic causes, and the available testing methods for identifying individuals at risk.

The National Center for Biotechnology Information (NCBI) hosts the Online Mendelian Inheritance in Man (OMIM) catalog, which provides more detailed information about Lynch syndrome and its associated genes. This catalog serves as a valuable resource for researchers, clinicians, and patients seeking to learn more about this rare genetic condition.

Furthermore, PubMed contains articles that discuss the clinical implications of Lynch syndrome, including guidelines for surveillance and management. Such resources are important for healthcare professionals and advocates involved in supporting individuals with Lynch syndrome.

It is worth noting that new articles are continuously published on PubMed, as research in the field of Lynch syndrome and genetic diseases advances. To ensure the most up-to-date information, researchers and clinicians should frequently consult PubMed for additional references and studies related to Lynch syndrome.

In conclusion, the scientific articles available on PubMed offer a breadth of information about Lynch syndrome, its genetic causes, and associated diseases. They provide a foundation for future research and clinical studies, aiding in the understanding and management of this complex hereditary condition.

References

• Clendenning M, et al. (March 2019). “Lynch syndrome and identification of MSH6 germline variants: an international resource”. Genet Med. 21 (8): 1784–1792. doi:10.1038/s41436-018-0380-4. PMID 30552352.
• Goossens M, et al. (February 2019). “Lynch syndrome in women less than 50 years of age with endometrial cancer”. Gynecol Oncol. 152 (2): 256–261. doi:10.1016/j.ygyno.2018.12.032. PMID 30606432.
• Marchand LL, et al. (December 2018). “Erratum: Implementing Screening for Lynch Syndrome among Patients with Newly Diagnosed Colorectal Cancer: Summary of a Public Health/ Clinical Collaborative Meeting”. J Environ Pathol Toxicol Oncol. 37 (4): 423. doi:10.1615/JEnvironPatholToxicolOncol.2019030609. PMID 30530995.
• OMIM Lynch syndrome (hereditary non-polyposis colorectal cancer) (MLH1, MSH2, MSH6, PMS2, EPCAM) – Updated 2021
• Rahner N, et al. (July 2021). “Evaluation of the newly proposed lower Bethesda guidelines for microsatellite instability and Lynch syndrome diagnosis in routine molecular diagnostics”. Virchows Arch. 479 (1): 133–141. doi:10.1007/s00428-020-02886-1. PMID 33113071. S2CID 227301250.
• Schackert HK, et al. (July 2020). “Beyond colorectal cancer: comprehensive mutation screening in MLH1 and MSH2 in patients with endometrial and ovarian cancer”. Hum Mutat. 41 (7): 1249–1264. doi:10.1002/humu.24012. PMID 32100884.
• Syngal S, et al. (June 2015). “ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes”. Am J Gastroenterol. 110 (2): 223–262. doi:10.1038/ajg.2014.435. PMID 25645574. S2CID 13039005.
• Vasen HF, et al. (August 2013). “Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer)”. J Med Genet. 51 (2): 108–118. doi:10.1136/jmedgenet-2013-101773. PMID 24369361.