[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100166719":3},{"organization":4,"armGroups":7,"interventions":10,"overallOfficials":24,"centralContacts":29,"locations":38,"responsibleParty":66,"collaborators":10,"id":68,"slug":10,"hasResults":69,"nctId":70,"briefTitle":71,"officialTitle":72,"acronym":10,"eligibilityCriteria":73,"healthyVolunteers":74,"sex":75,"minAge":10,"maxAge":10,"enrollmentInfo":76,"targetDuration":10,"studyType":79,"phases":10,"briefSummary":80,"conditions":81,"keywords":85,"overallStatus":41,"whyStopped":10,"lastUpdateSubmitDate":91,"lastUpdatePostDateStruct":92,"startDateStruct":95,"completionDateStruct":10,"leadSponsor":97,"locationsCount":98},{"fullName":5,"class":6},"National Institutes of Health Clinical Center (CC)","NIH",[8,12,15,18,21],{"label":9,"type":10,"description":11,"interventionNames":10},"1",null,"Patients within a family with a known TP53 mutation who are positive for that mutation.",{"label":13,"type":10,"description":14,"interventionNames":10},"2","Patients within a family with a known TP53 mutation who are negative for that mutation.",{"label":16,"type":10,"description":17,"interventionNames":10},"3","Unaffected family members.",{"label":19,"type":10,"description":20,"interventionNames":10},"4","Patients who meet clinical LFS criteria but haven't had TP53 testing.",{"label":22,"type":10,"description":23,"interventionNames":10},"5","Patients within a family with an negative\u002Funknown TP53 mutation.",[25],{"name":26,"affiliation":27,"role":28},"Payal P Khincha, M.D.","National Cancer Institute (NCI)","PRINCIPAL_INVESTIGATOR",[30,35],{"name":31,"role":32,"phone":33,"phoneExt":10,"email":34},"NCI Family Study Referrals","CONTACT","(800) 518-8474","ncifamilystudyreferrals@mail.nih.gov",{"name":26,"role":32,"phone":36,"phoneExt":10,"email":37},"(240) 276-7267","payal.khincha@nih.gov",[39,57],{"facility":40,"status":41,"city":42,"state":43,"zip":44,"country":45,"countryCode":46,"cosmosGeoPoint":47,"geoPoint":52,"contacts":53},"National Cancer Institute - Shady Grove","RECRUITING","Bethesda","Maryland","20892","United States","US",{"type":48,"coordinates":49},"Point",[50,51],-77.10026,38.98067,{"lat":51,"lon":50},[54],{"name":55,"role":32,"phone":56,"phoneExt":10,"email":37},"Payal Khincha, M.D.","240-276-7267",{"facility":58,"status":41,"city":42,"state":43,"zip":44,"country":45,"countryCode":46,"cosmosGeoPoint":59,"geoPoint":61,"contacts":62},"National Institutes of Health Clinical Center",{"type":48,"coordinates":60},[50,51],{"lat":51,"lon":50},[63],{"name":64,"role":32,"phone":65,"phoneExt":10,"email":10},"For more information at the NIH Clinical Center contact National Cancer Institute Referral Office","888-624-1937",{"type":67,"investigatorFullName":10,"investigatorTitle":10,"investigatorAffiliation":10,"oldNameTitle":10,"oldOrganization":10},"SPONSOR","100166719",false,"NCT01443468","Clinical and Genetic Studies of Li-Fraumeni Syndrome","Clinical, Epidemiologic, and Genetic Studies of Li-Fraumeni Syndrome","* INCLUSION CRITERIA:\n* On referral, persons of all ages will be considered for inclusion in the study\n\nbecause of either:\n\n* A family or personal medical history of neoplasia consistent with the diagnosis of LFS or LFL; or,\n* A personal history of a germline TP53 mutation; or,\n* A first- or second- degree relative of a TP53 mutation carrier, regardless of mutation status; or,\n* A personal history of three or more LFS-related primary cancers; or,\n* A personal history of adrenal cortical carcinoma or choroid plexus carcinoma at any age, regardless of family history\n\nPersonal and family medical history must be verified through questionnaires, interviews, review\n\nof medical records and\u002For review of pathology slides.\n\nThere are 72 families who have previously enrolled in the pilot study under protocol 78-C-0039.\n\nAs the eligibility criteria remain the same, these families will be eligible for this protocol and will be invited to sign the new consent.\n\n-Ability of subject or Legally Authorized Representative (LAR) to understand and the willingness to sign a written informed consent document.\n\nFor both the Field and Clinical Center Cohort, the PI will ensure that study investigators will\n\nidentify an appropriate LAR consistent with requirements of Policy 403 and will obtain consent\n\nfrom the LAR as outlined in the consent process before initiating research interventions.\n\n-Pregnant women\n\nIn order to study the lifetime rates of cancer development in all individuals with Li-Fraumeni\n\nsyndrome, we will need to evaluate what effect pregnancy may have on rate of cancer\n\ndevelopment both in affected individuals and unaffected family controls. Additionally, some\n\ncancers are known to have an increased risk of development in the context of pregnancy and\n\nlactation. Exclusion of pregnant women would preclude understanding of these cancer risks for\n\nan important subset of the population.\n\nPregnant women are eligible for enrollment on the data collection component of this study.\n\nPregnant women will be included in this study as several endpoints may be assessed during\n\npregnancy; counseling, education, and other minimal risk procedures (i.e. blood draw) may be\n\ndone. We will postpone full clinical evaluations at the Clinical Center of pregnant women until\n\nthe subject has recovered post-partum.\n\nAll screening studies, for women who are pregnant, or breastfeeding will be deferred while the\n\nwoman is pregnant or breastfeeding. Pregnancy testing will be performed for females of childbearing age prior to imaging studies, and the test results must be negative prior to the scan..\n\nThe risk to the fetus and pregnant woman would be no greater than minimal for procedures that\n\nare performed.\n\nEXCLUSION CRITERIA:\n\n* Referred individuals and families whose reported diagnoses cannot be verified\n* Medical or psychiatric disorder which, in the opinion of the Principal Investigator, would preclude the ability to participate in clinical research\n* Women who are pregnant will not be eligible for the cancer screening protocol until they recover post-partum. Women participating in the cancer screening protocol will discontinue this component if they become pregnant while on study. Once they recover post-partum, they can continue the cancer screening protocol.",true,"ALL",{"count":77,"type":78},5000,"ESTIMATED","OBSERVATIONAL","Background:\n\n\\- Li-Fraumeni syndrome (LFS) is a genetic condition that increases the risk for some types of cancer. LFS may lead to cancer of the bone or connective tissue, breast, and brain. It may also increase the risk for certain types of leukemia and other cancers. The only known cause of LFS is a change (called a mutation ) in a gene known as TP53. However, not all people with LFS have a TP53 mutation. Researchers want to study other possible genetic causes of LFS, and factors that may increase or decrease cancer risk in people with the syndrome.\n\nObjectives:\n\n* To learn more about the types of cancers that occur in individuals with LFS.\n* To study the role of the TP53 gene in the development of cancer.\n* To look for other possible genes that cause LFS\n* To study the effect of LFS diagnosis on families.\n* To determine if environmental factors or other genes can change a person s cancer risk associated with LFS.\n\nEligibility:\n\n* Individuals with a family or personal medical history of cancers consistent with LFS.\n* Individuals with a family or personal medical history of cancers that does not meet the diagnosis of LFS, but the history is suggestive for LFS (meets the diagnosis for the so-called Li-Fraumeni like syndrome)\n* Individuals with certain rare cancers\n* Individuals with a family or personal history of a TP53 gene mutation, with or without related cancer(s).\n\nDesign:\n\n* Participants will fill out a medical history questionnaire and a family history questionnaire.\n* Blood samples will be collected for DNA and for storage. Cheek cell samples may be collected if blood cannot be obtained for DNA. Participants can choose to have or not have cancer screening with blood tests, imaging studies, and other exams.\n* Participants will complete questionnaires about their worries about cancer, stress levels, and coping strategies. Diet and physical activity questionnaires will also be given. Other psychological tests may be given as needed.\n* Participants will be monitored for several years, with regular followup visits to the National Institutes of Health, if indicated. Any changes in health or cancer status will be recorded.",[82,83,84],"Li-Fraumeni Syndrome","Neoplasms","Tp53 Mutations",[86,87,88,89,90],"Tp53","Cancer","Hereditary","Genetic Testing","Screening","2026-06-18",{"date":93,"type":94},"2026-06-22","ACTUAL",{"date":96,"type":94},"2012-01-17",{"name":27,"class":6},2]