What genes are related to Li-Fraumeni syndrome? The CHEK2 and TP53 genes are associated with Li-Fraumeni syndrome. More than half of all families with Li-Fraumeni syndrome have inherited mutations in the TP53 gene.TP53 is a tumor suppressor gene.which means thatitomally helpso therowth andivison of cels Mutaionsin this gene can allow cells to divide in an uncontrolled way and form tumors.Other genetic and environmental factors are also likely to affect the risk of cancer in people with TP53 mutations. A few families with cancers characteristic of Li-Fraumeni syndrome and Li-Fraumeni-like syndrome do not have TP53 mutations,but have mutations in the CHEK2 gene.Like the TP53 gene,CHEK2is a tumor suppressor gene.Researchers are uncertain whether CHEK2 mutations actually cause these conditions or are merely associated with an increased risk of certain cancers (including breast cancer). Read more about the CHEK2 and TP53 genes. Read more about breast cancer. How do people inherit Li-Fraumeni syndrome? Li-Fraumeni syndrome isieritedntmdominant patte,which meansone coy of the atered geneneach cellissfcint toincrease the risk of developing cancer.In most cases.an afected person has aparent andother family members with cancers characteristic of the condition
Where can I find information about diagnosis or management of Li-Fraumeni syndrome? These resources address the diagnosis or management of Li-Fraumeni syndrome and may include treatment providers. Gene Review:Li-Fraumeni Syndrome Gene Tests:Li-Fraumeni Syndrome .Gene Tests:Li-Fraumeni Syndrome,CHEK2-Related .MedlinePhus Encyclopedia:Cancer You might also find information on the diagnosis or management of Li-Fraumeni syndrome in Educational resources and Patient support. To locate a healthcare provider.see How can I find a genetics professional in my area?in the Handbook
Where can I find additional information about Li-Fraumeni syndrome? You may find the following resources about Li-Fraumeni syndrome helpful.These materials are written for the general public .MedlinePlus-Health information(5 links) .Genetic and Rare Diseases Information CenterInformation about genetic conditions and rare diseases .Additional NIH Resources-National Institutes of Health (3 links) .Educational resources-Information pages(5 links) .Patient support-For patients and families(4 links) You may also be interested in these resources,which are designed for healthcare professionals and researchers. .Gene Reviews-Clinical summary .Gene Tests-DNA tests ordered by healthcare professionals(2 links) ClinicalTrials.gov-Linking patients to medical research PubMed-Recent literature .OMIM-Genetic disorder catalog(2 links)
What other names do people use for Li-Fraumeni syndrome? 。LFS .Sarcoma,breast.leukemia,and adrenal gland(SBLA)syndrome .Sarcoma family syndrome of Li and Fraumeni SBLA syndrome For more information about naming genetic conditions.see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named?in the Handbook. 易迅飓风 What if I still have specific questions about Li-Fraumeni syndrome? Ask the Genetic and Rare Diseases Information Center Where can I find general information about genetic conditions? The Handbook provides basic information about genetics in clear language. .What does it mean if a disorder seems to run in my family? What are the different ways in which a genetic condition can be inherited? If a genetic disorder runs in my family,what are the chances that my children will have the condition? Why are some genetic conditions more common in particular ethnic groups? These links provide additional genetics resources that may be useful. ·Genetics and health .Resources for Patients and Families Resources for Health Professionals
What glossary definitions help with understanding Li-Fraumeni syndrome? adrenal glands:autosomal;autosomal dominant:cancer:carcinoma:cell:gene:hormone:kidney:leukemia: mutation:osteosarcoma;prevalence;sarcoma;soft tissue:syndrome:tissue;tumor;tumor suppressor gene You may find definitions for these and many other terms in the Genetics Home Reference Glossary. See also Understanding Medical Terminology. References(9 links) The resources on this site should not be used as a substitute for professional medical care or advice.Users seeking information about a personal genetic disease.syndrome,or condition should consult with a qualified healthcare professional See How canI find a genetics professional in my area?in the Handbook