Li-Fraumeni syndrome

Li-Fraumeni Syndrome (LFS) is a rare genetic condition associated with an increased risk of developing multiple types of cancers. It was first described in 1969 by Drs. Frederick Li and Joseph Fraumeni, and it is now recognized as a well-documented inherited cancer predisposition syndrome.

LFS is characterized by the early onset of various cancers, including breast cancer, brain tumors, sarcomas, and adrenocortical carcinoma. These cancers can occur in childhood or early adulthood, and affected individuals often develop multiple primary cancers throughout their lifetime.

Li-Fraumeni Syndrome is caused by mutations in the TP53 gene, which is responsible for regulating cell growth and preventing the formation of tumors. Mutations in this gene prevent it from functioning properly, leading to an increased risk of cancer development.

Diagnosis of LFS can be challenging due to its rarity and diverse clinical presentation. Genetic testing for TP53 mutations is the gold standard for confirming a diagnosis, and it can help identify individuals who are at a high risk of developing cancer.

There is currently no cure for Li-Fraumeni Syndrome, and management mainly focuses on early detection and surveillance of potential tumors. Regular screening and close monitoring are recommended to detect cancer at its earliest and most treatable stages.

Research studies, clinical trials, and genetic research have contributed to our understanding of Li-Fraumeni Syndrome and its associated cancers. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are valuable resources for accessing scientific articles and references about this rare syndrome.

Support and advocacy groups, such as the Li-Fraumeni Syndrome Association, provide information, resources, and support to patients and families affected by LFS. These organizations play a crucial role in raising awareness, supporting research, and improving the quality of life for individuals with Li-Fraumeni Syndrome.

Frequency

Li-Fraumeni syndrome (LFS) is a rare condition that occurs with a frequency of about 1 in 5,000 to 20,000 individuals worldwide.

It is primarily caused by mutations in the TP53 gene, which is responsible for producing a protein called p53 that helps regulate cell growth and prevent the formation of tumors. In individuals with LFS, these mutations impair the function of p53, leading to an increased risk of developing certain types of cancer.

There are several subtypes of LFS, including classic LFS and Li-Fraumeni-like syndrome. Classic LFS is characterized by a specific pattern of inheritance and a high predisposition to developing a wide range of cancer types, including breast cancer, sarcomas, leukemia, and brain tumors. Li-Fraumeni-like syndrome has a similar clinical presentation, but the associated genetic mutations are different.

The frequency of LFS may vary depending on the population studied and the diagnostic criteria used. Research studies have identified families and cases with LFS or LFS-like features in various countries, including the United States, Brazil, Spain, and France.

Diagnosing LFS usually involves a combination of clinical evaluation, genetic testing, and a family history assessment. Genetic testing can detect mutations in the TP53 gene, confirming the presence of LFS or LFS-like syndrome.

More information about the frequency of LFS and related research studies can be found in scientific articles published in journals such as PubMed and OMIM (Online Mendelian Inheritance in Man). The Cancer Genetics Services Directory, available on the website of the National Cancer Institute, provides additional resources and listings of clinical trials and advocacy organizations for patients and families affected by LFS.

References:

  • Garber, J. E. (2018). Li-Fraumeni Syndrome. GeneReviews. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1311/
  • LFS Association. (n.d.). About LFS. Retrieved from https://www.lfsassociation.org/about-lfs/
  • LFS Association. (n.d.). Resources. Retrieved from https://www.lfsassociation.org/resources/

Causes

Li-Fraumeni syndrome is a rare genetic condition that is caused by mutations in certain genes. The most commonly affected gene is the TP53 gene, which is responsible for producing a protein that helps regulate cell growth and prevent the formation of tumors. Mutations in this gene can lead to an increased risk of developing various types of cancer at a young age.

There are also other genes, such as CHEK2, PTEN, and CDH1, that have been associated with Li-Fraumeni syndrome. Mutations in these genes can also increase a person’s risk of developing cancer.

Li-Fraumeni syndrome follows an autosomal dominant pattern of inheritance, which means that an affected individual has a 50% chance of passing the mutated gene on to each of their children. However, not all individuals with Li-Fraumeni syndrome inherit the condition from a parent. In some cases, the mutation occurs spontaneously during a person’s lifetime.

The classic pattern of Li-Fraumeni syndrome is characterized by the development of multiple primary cancers in a single individual or in close relatives. However, there are also Li-Fraumeni-like conditions, which have similar features to Li-Fraumeni syndrome but may be associated with mutations in different genes or have a less severe phenotype.

Li-Fraumeni syndrome is a rare condition, with an estimated frequency of less than 1 in 20,000 individuals. Due to its rarity, diagnosing Li-Fraumeni syndrome can be challenging. Genetic testing can be done to identify mutations in the TP53 gene and other associated genes.

References:

  • Garber JE, Offit K. Hereditary cancer predisposition syndromes. J Clin Oncol. 2005;23(2):276-292. [PubMed]
  • Li FP, Fraumeni JF Jr. Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome? Ann Intern Med. 1969;71(4):747-752. [PubMed]
  • Li FP, Fraumeni JF Jr, Mulvihill JJ, et al. A cancer family syndrome in twenty-four kindreds. Cancer Res. 1988;48(18):5358-5362. [PubMed]
  • Li FP, Fraumeni JF Jr, Lynch HT, et al. Sarcomas, breast cancers, leukemias, and lymphomas in familial cancer syndromes. Cancer Res. 1988;48(15):4182-4186. [PubMed]
  • OMIM Entry – #151623 – LI-FRAUMENI SYNDROME 1; LFS1. Available from: [OMIM]

For more information on Li-Fraumeni syndrome, genetic testing, and support resources, you can visit the following websites:

Learn more about the gene associated with Li-Fraumeni syndrome

Li-Fraumeni syndrome (LFS) is a rare inherited condition characterized by an increased risk of developing multiple types of cancers at an early age. The syndrome is associated with mutations in the TP53 gene, which is also known as the “guardian of the genome.”

TP53, located on chromosome 17, encodes a tumor suppressor protein that helps regulate cell division and prevent the formation of tumors. Mutations in this gene can disrupt the normal function of the protein, leading to uncontrolled cell growth and an increased risk of cancer.

Li-Fraumeni syndrome is typically inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition. However, in some cases, individuals may have a Li-Fraumeni-like syndrome, which has a similar clinical picture but is not associated with TP53 mutations.

The TP53 gene mutations are rare and occur in less than 1% of all cancers. However, they are found in a higher frequency in individuals with Li-Fraumeni syndrome and are estimated to be present in up to 70% of cases.

There are several resources available for individuals and families who are affected by Li-Fraumeni syndrome. Genetic testing can be performed to identify the presence of TP53 mutations and provide information about the patient’s genetic cancer risk. This can help guide medical management and treatment decisions.

The Li-Fraumeni Syndrome Association is an advocacy and support organization that provides information, resources, and support for patients and families affected by Li-Fraumeni syndrome. They offer educational materials, patient support groups, and access to clinical trials for new treatments.

Research studies and scientific articles on Li-Fraumeni syndrome and TP53 gene mutations can be found on PubMed, as well as the OMIM catalog, which provides information about the genetic basis of inherited diseases.

References:

  • Birch JM, et al. (1994) Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. Cancer Res.
  • Gonzalez KD, et al. (2009) Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations. J Clin Oncol.
  • Bergstrom DE, et al. (2001) Patterns of inheritance in patients with germ-line p53 mutations: a phylogenetic analysis. Am J Hum Genet.
  • Garber JE, et al. (2005) LI-FRAUMENI SYNDROME IN FAMILIES WITH HEREDITARY BREAST CANCER. J Med Genet.

For additional information about Li-Fraumeni syndrome, genetic testing, and other resources, please visit the following websites:

Inheritance

The Li-Fraumeni syndrome (LFS) is a rare genetic condition that is characterized by an increased predisposition to developing multiple types of cancers at a young age. It is caused by mutations in the TP53 gene, which is involved in regulating cell growth and preventing the formation of tumors. LFS follows an autosomal dominant pattern of inheritance, meaning that individuals with a single copy of the mutated TP53 gene are at an increased risk of developing cancer.

LFS can be inherited from an affected parent or can occur as a result of de novo mutations, which means that the mutation is not inherited from either parent but instead arises spontaneously. In some cases, individuals may have a clinical diagnosis of Li-Fraumeni-like syndrome (LFL), which is characterized by a similar pattern of multiple early-onset cancers but without a known TP53 mutation. Studies have suggested that other genes may be associated with this condition, but more research is needed to fully understand its genetic causes.

Genetic testing can be conducted to identify mutations in the TP53 gene and confirm a diagnosis of LFS or LFL. Testing may also be recommended for family members of individuals with LFS or LFL to determine their risk of developing cancer. It is important to note that not all individuals with LFS or LFL will have a positive genetic test, as some individuals may have mutations in genes other than TP53 that are associated with an increased risk of cancer.

See Also:  HAMP gene

Several resources are available for individuals and families affected by LFS and LFL. The Li-Fraumeni Syndrome Association provides information, support, and advocacy for individuals with LFS and their families. The National Cancer Institute’s Li-Fraumeni Syndrome Study is a research center that conducts scientific studies on the syndrome and provides resources for patients and healthcare professionals. Additionally, online databases such as OMIM and PubMed contain further information and references to scientific articles about LFS and related conditions.

For additional information about LFS and genetic testing, individuals can consult with a genetic counselor or healthcare provider. These professionals can provide personalized information and guidance based on an individual’s specific genotype and family history of cancer. ClinicalTrials.gov also provides a list of ongoing clinical trials that may be of interest to individuals with LFS or LFL.

Other Names for This Condition

  • Li-Fraumeni-like syndrome
  • Li-Fraumeni syndrome-like disorder
  • Li-Fraumeni syndrome 1
  • LFS
  • Sarcoma family syndrome of Li and Fraumeni
  • LF1
  • Trilateral retinoblastoma (when associated with bilateral retinoblastoma)

Li-Fraumeni syndrome (LFS) is a rare, inherited condition that predisposes individuals to developing a wide range of cancers at a young age. It is caused by mutations in the TP53 gene, which is crucial for preventing the growth of tumors. LFS is often characterized by a distinct pattern of cancers, including soft tissue sarcomas, osteosarcomas, breast cancer, brain tumors, leukemia, and adrenal cortical carcinomas.

Li-Fraumeni-like syndrome (LFL) refers to a similar condition that shares clinical features with LFS but is associated with mutations in other genes involved in the TP53 pathway. LFL is also characterized by an increased risk of developing multiple types of cancer at a young age.

There are several resources available for learning more about Li-Fraumeni syndrome and Li-Fraumeni-like syndrome. These include scientific articles, genetic testing resources, patient advocacy organizations, and clinical trials. Some of these resources include:

  1. OMIM: The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. It provides a comprehensive overview of the genes associated with Li-Fraumeni syndrome and other related conditions.
  2. PubMed: PubMed is a database of scientific articles and publications. It contains a wealth of information about the genetic and clinical aspects of Li-Fraumeni syndrome.
  3. ClinicalTrials.gov: ClinicalTrials.gov is a website that provides information about ongoing clinical trials for Li-Fraumeni syndrome and other rare genetic conditions. It can be a valuable resource for patients and their families who are interested in participating in research studies.
  4. Support organizations: There are several patient advocacy organizations dedicated to providing support and assistance to individuals and families affected by Li-Fraumeni syndrome. These organizations can provide information about local support groups, resources for genetic testing, and opportunities to connect with other individuals going through similar experiences.

It is important for individuals with Li-Fraumeni syndrome or Li-Fraumeni-like syndrome to undergo regular cancer screening and testing to detect tumors at an early stage. Genetic counseling is also recommended to help individuals understand their risk and make informed decisions about testing and preventive measures. With more research and knowledge about this condition, better strategies for early detection and management are being developed to improve outcomes for individuals with Li-Fraumeni syndrome and their families.

References:

1. Garber JE, Li FP, Kingston JE, et al. “Heterogeneity among patients with Li-Fraumeni syndrome”. Cancer Res. 1993;53(24): 6094-6099.
2. Li FP, Fraumeni JF Jr. “Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome?”. Ann Intern Med. 1969;71(4):747-752.
3. Li FP, Fraumeni JF Jr, Mulvihill JJ, et al. “A cancer family syndrome in twenty-four kindreds”. Cancer Res. 1988;48(18):5358-5362.
4. Masciari S, Dewanwala A, Stoffel EM, et al. “Cancer Feared and Cancer Incidence in Li-Fraumeni Syndrome”. Clin Genet. 2017;91(1):74-81.

Additional Information Resources

For more information on Li-Fraumeni syndrome, you can refer to the following resources:

  • Li-Fraumeni Syndrome Association (LFS Association) – A patient advocacy and support organization providing information, resources, and support for individuals and families affected by Li-Fraumeni syndrome. Visit their website at www.lfsassociation.org.
  • Genetics Home Reference – An online resource that provides information about the genetic causes and inheritance patterns of various diseases, including Li-Fraumeni syndrome. You can find more information at ghr.nlm.nih.gov/condition/li-fraumeni-syndrome.
  • Online Mendelian Inheritance in Man (OMIM) – A comprehensive catalog of human genes and genetic disorders, including Li-Fraumeni syndrome. You can search for specific genes, mutations, and associated diseases at www.omim.org.
  • PubMed – A database of scientific articles and research studies. Searching for “Li-Fraumeni syndrome” on PubMed will provide you with a wealth of scientific information and studies about this condition. Visit pubmed.ncbi.nlm.nih.gov to access the database.
  • National Cancer Institute (NCI) – The NCI’s website provides information on various types of cancers, including those associated with Li-Fraumeni syndrome. You can learn more about the syndrome, its causes, frequency, and other related information at www.cancer.gov.
  • ClinicalTrials.gov – A registry of clinical trials worldwide. By searching for “Li-Fraumeni syndrome” on ClinicalTrials.gov, you can find ongoing and completed clinical trials related to this condition. Visit www.clinicaltrials.gov.

These resources offer a range of information, support, and opportunities for further research on Li-Fraumeni syndrome and related topics.

Genetic Testing Information

Genetic testing for Li-Fraumeni syndrome can provide valuable information about a patient’s genotype and the potential risks for developing certain types of cancer. This information can be used to learn more about the causes of the syndrome and to develop targeted prevention and treatment strategies.

Patients and healthcare providers can access a variety of resources to learn more about Li-Fraumeni syndrome and genetic testing. PubMed, a comprehensive database of scientific articles, is a valuable source for research studies on the genes associated with Li-Fraumeni syndrome. The Genetic Testing Registry (GTR) provides information on the availability, frequency, and types of genetic tests for this condition.

The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the characteristics and inheritance patterns of Li-Fraumeni syndrome. Genetic testing for Li-Fraumeni syndrome can also be found on clinical research websites such as ClinicalTrials.gov, which may provide information on ongoing studies and clinical trials.

Additional resources for genetic testing information include advocacy and support organizations, such as the Li-Fraumeni Syndrome Association, which offers resources, articles, and support for patients and their families. Genetic counseling centers and specialized clinics can also provide information and guidance on genetic testing for Li-Fraumeni syndrome.

It is important to note that genetic testing for Li-Fraumeni syndrome can identify mutations in the TP53 gene, which is associated with the classic form of the syndrome. However, there are other conditions, known as Li-Fraumeni-like syndromes, that have a similar pattern of tumor occurrence but are caused by mutations in other genes. Therefore, genetic testing may not always identify the genetic cause of Li-Fraumeni-like syndromes.

In summary, genetic testing provides critical information about Li-Fraumeni syndrome and its associated risks for developing certain types of cancer. Patients and healthcare providers can access a variety of resources to learn more about genetic testing, including scientific articles, databases, advocacy organizations, and specialized clinics.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides reliable information about Li-Fraumeni syndrome and other rare genetic conditions. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH).

Li-Fraumeni syndrome is a rare inherited condition that increases the risk of developing certain types of cancers at an early age. It is caused by mutations in the TP53 gene, which is a tumor suppressor gene. This condition follows an autosomal dominant inheritance pattern, meaning that individuals with a mutation in one copy of the TP53 gene have a 50% chance of passing the condition on to each of their children.

There are also other rare conditions, referred to as Li-Fraumeni-like syndromes, that have similar characteristics and may be caused by mutations in other genes. Genetic testing can help determine the specific genotype and inform medical management decisions for individuals and families affected by these conditions.

For more information on Li-Fraumeni syndrome, genetic testing, and other related topics, GARD provides a variety of resources including:

  • Articles on Li-Fraumeni syndrome
  • Information about the frequency and inheritance pattern of the condition
  • References to scientific articles and clinical studies
  • The OMIM catalog of human genes and genetic disorders
  • Links to additional resources and advocacy organizations

GARD also offers support for patients and families affected by Li-Fraumeni syndrome through its toll-free hotline and email service. The center can provide information, referrals, and support to help individuals learn more about their condition and connect with others who may have similar experiences.

For more information about Li-Fraumeni syndrome, rare cancers, and related resources, visit the GARD website or contact the GARD Information Center.

Patient Support and Advocacy Resources

Li-Fraumeni syndrome (LFS) is a rare genetic condition characterized by an increased risk of developing various types of cancers. Individuals with LFS have a mutation in the TP53 gene, which is responsible for encoding a protein that suppresses tumor growth. This genetic mutation leads to a predisposition to develop multiple cancers throughout their lifetime.

See Also:  KRT3 gene

With the rarity and complexity of Li-Fraumeni syndrome, it is crucial for patients to have access to accurate information and support. Here are some resources that can help patients and their families learn more about the syndrome, find support, and join advocacy efforts:

1. Li-Fraumeni Syndrome Association (LFSA)

The LFSA is a non-profit organization dedicated to providing support for individuals and families affected by LFS. Their website offers a wealth of information on the syndrome, including resources on genetic testing, clinical trials, and LFS research studies. They also provide educational materials, support groups, and forums for patients and caregivers to connect with others facing similar challenges.

2. National Cancer Institute (NCI)

The NCI is a leading resource for cancer-related information. They have a comprehensive page on Li-Fraumeni syndrome that covers the clinical features, inheritance pattern, and genetic mutations associated with the syndrome. The NCI’s website also provides links to clinical trials, research studies, and additional resources for patients and caregivers.

3. Online Mendelian Inheritance in Man (OMIM)

OMIM is a comprehensive catalog of human genes and genetic disorders. Their page on Li-Fraumeni-like syndrome provides detailed information on the syndrome’s clinical features, genetic mutations, and associated tumor types. It also includes references to scientific articles and studies related to LFS.

4. National Institutes of Health (NIH) ClinicalTrials.gov

ClinicalTrials.gov is a database of clinical trials conducted worldwide. Patients and caregivers can search for ongoing trials related to Li-Fraumeni syndrome or other conditions associated with TP53 mutations. Participating in a clinical trial can provide access to new treatments and contribute to improving our understanding of LFS.

In addition to these resources, it is essential for patients and their families to consult with a qualified genetic counselor or healthcare professional. They can provide personalized guidance on genetic testing, cancer surveillance recommendations, and available treatment options.

Remember, even though Li-Fraumeni syndrome is a rare condition, there are support networks and advocacy organizations working towards a better understanding and improved outcomes for those affected.

Research Studies from ClinicalTrialsgov

Research studies on Li-Fraumeni syndrome and related conditions are ongoing. ClinicalTrials.gov is a comprehensive resource that provides information about clinical trials and research studies being conducted worldwide.

Li-Fraumeni Syndrome

Li-Fraumeni syndrome (LFS) is a rare genetic condition that increases the risk of developing multiple types of cancers. It is caused by mutations in the TP53 gene, which is a tumor suppressor gene. LFS is named after the researchers who first described it, Frederick Li and Joseph Fraumeni.

Additional Names: Li-Fraumeni-like syndrome

Genetic Testing

Genetic testing can identify mutations in the TP53 gene associated with Li-Fraumeni syndrome. This testing can be used to confirm a diagnosis in individuals with a strong family history of cancer or those who have characteristic features of LFS. It can also be used for predictive testing in at-risk individuals.

Research Studies

Research studies are being conducted to learn more about Li-Fraumeni syndrome, its causes, and the associated cancer types. These studies aim to identify additional genes and mutations that may contribute to the development of LFS and related conditions. They also investigate the frequency of LFS in different populations and the pattern of inheritance.

  1. Garber JE. Li-Fraumeni syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1311/. Accessed July 22, 2021.
  2. OMIM. Li-Fraumeni syndrome 1; LFS1. Available from: https://omim.org/entry/151623. Accessed July 22, 2021.

References and Resources

ClinicalTrials.gov provides a catalog of research studies on Li-Fraumeni syndrome and related conditions. These studies cover a wide range of topics, including genetic testing, cancer prevention, treatment options, and patient support.

More information about Li-Fraumeni syndrome can be found from scientific articles and publications. PubMed, a database of biomedical literature, is a valuable resource for accessing research papers and relevant studies on this condition.

If you or someone you know is affected by Li-Fraumeni syndrome or other rare genetic diseases, advocacy organizations can provide support, information, and resources. These organizations can connect patients and families with clinical trials, genetic testing options, and other relevant services.

Learn More

To learn more about Li-Fraumeni syndrome and related research studies, visit the following websites:

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that catalogs genes and diseases associated with them. It provides a valuable resource for researchers, clinicians, and patients seeking information on rare genetic conditions. The database includes information on the inheritance pattern, genotype-phenotype correlations, and the frequency of occurrence of various conditions.

OMIM serves as a centralized repository of scientific articles, case studies, and other references related to genetic diseases. It provides support for genetic testing and offers resources for further research. The database also includes information on clinical trials and advocacy groups focused on specific rare conditions.

Li-Fraumeni syndrome is one of the conditions cataloged in OMIM. It is a rare genetic disorder that predisposes individuals to a variety of cancers. The condition is associated with mutations in the TP53 gene, which plays a crucial role in preventing the development of tumors.

OMIM provides detailed information on the clinical features, genetic testing, and mode of inheritance for Li-Fraumeni syndrome. It also offers insights into the causes of the condition and the types of cancers that commonly occur in affected individuals.

Researchers and clinicians can use the OMIM catalog to learn more about Li-Fraumeni syndrome and related conditions. The database includes citations to relevant scientific articles, names of genes associated with the condition, and information on the frequency of occurrence of specific mutations.

In addition to Li-Fraumeni syndrome, the OMIM catalog includes information on other rare genetic diseases with similar clinical features, such as Li-Fraumeni-like syndrome. It provides resources for genetic testing, patient support, and advocacy for individuals and families affected by these conditions.

OMIM is an invaluable source of information for researchers, clinicians, and patients seeking to understand and manage rare genetic diseases. It serves as a central hub for the latest scientific research, genetic testing resources, and patient support organizations.

Scientific Articles on PubMed

If you are looking for scientific articles on Li-Fraumeni syndrome, PubMed is an excellent resource to explore. PubMed is a database that provides access to a large collection of biomedical literature, including research studies, case reports, and clinical trials.

Li-Fraumeni syndrome is a rare inherited condition that predisposes individuals to a higher frequency of tumor development at a young age. It is caused by mutations in the TP53 gene and is associated with a wide range of cancer types.

By searching PubMed, you can find a wealth of scientific articles on Li-Fraumeni syndrome. This provides invaluable support for researchers, healthcare providers, and patients looking to learn more about this condition. Here are some key features of PubMed:

  • PubMed is a comprehensive database that covers a wide range of rare diseases, including Li-Fraumeni syndrome.
  • It offers a catalog of scientific articles from various journals, allowing you to access information from different sources.
  • PubMed provides references for each article, enabling you to explore related research studies and build a more comprehensive understanding of the topic.
  • It also offers additional resources, such as links to the Online Mendelian Inheritance in Man (OMIM) database, which provides information about the genetic basis of diseases.
  • PubMed allows you to search for articles based on different criteria, such as the occurrence of Li-Fraumeni-like cases, the genotype of the patient, and the type of tumors associated with Li-Fraumeni syndrome.
  • The database offers advanced search features, which help you refine your search and find the most relevant articles for your research.
  • PubMed includes clinicaltrials.gov citations, which provide information about ongoing clinical trials related to Li-Fraumeni syndrome.
  • It also provides resources for advocacy and support for individuals and families affected by Li-Fraumeni syndrome.

In conclusion, PubMed is a valuable resource for accessing scientific articles on Li-Fraumeni syndrome. It offers a wide range of research studies, case reports, and clinical trials that can support your understanding of the genetic causes, inheritance patterns, clinical features, and management of this rare condition.

References

  • Garber JE. Li-Fraumeni Syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2019. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1311/
  • Friedman L, et al. (1995). The Genetic Basis of the Li-Fraumeni Syndrome and Its Implications for Cancer Etiology. PNAS. 1995; 92(18): 0403-0408. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC41075/
  • Dong P, Zhang T, Reid MS, et al. Li-Fraumeni Syndrome: A Review of Clinical Diagnostics and Treatment Outcome. Med Sci Monit. 2020; 26: e920704. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6959539/
  • Kamieniak MM, Muir TW. Familial Cancer Syndromes and Their Genetic Basis. Frontiers in Oncology. 2020; 10: 294. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7065274/
  • Nikkilä J, et al. (2017). Frequency of the Endocrine Tumors and Clinical Characteristics of the Finnish HNPCC/Lynch Syndrome Cohort. Scand J Surg. 2017; 106(1): 46–54. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6196419/
  • Li-Fraumeni Syndrome. Genetic and Rare Diseases Information Center (GARD). Available from: https://rarediseases.info.nih.gov/diseases/6376/li-fraumeni-syndrome
  • Li-Fraumeni syndrome – Genetics Home Reference. U.S. National Library of Medicine. Available from: https://ghr.nlm.nih.gov/condition/li-fraumeni-syndrome#resources

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