[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"li-fraumeni-syndrome\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:li-fraumeni-syndrome":383},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,12,0,[8,53,65,98,121,195,214,240,267,289,322,358],{"id":9,"slug":4,"hasResults":10,"nctId":11,"briefTitle":12,"officialTitle":13,"acronym":4,"eligibilityCriteria":14,"healthyVolunteers":10,"sex":15,"minAge":16,"maxAge":17,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":22,"conditions":23,"keywords":34,"overallStatus":40,"whyStopped":4,"lastUpdateSubmitDate":41,"lastUpdatePostDateStruct":42,"startDateStruct":45,"completionDateStruct":47,"leadSponsor":49,"locationsCount":52},"100054169",false,"NCT07005297","Clinical Genetics Branch Eligibility Screening Survey","Clinical Genetics Branch (CGB) Eligibility Screening Survey","* INCLUSION CRITERIA\n\nThere is no age restriction; therefore, viable neonates may be included. This eligibility screening protocol is intended for individuals meeting one or more of the following criteria:\n\n1. Personal or family history of a diagnosis of a syndrome being actively investigated in one of the following CGB study protocol:\n\n   * Protocol 000678: Medical history of neoplasia of an unusual type, pattern, or number.\n   * Protocol 11C0255: A personal history of adrenal cortical carcinoma or choroid plexus carcinoma at any age, regardless of family history, or family or personal medical history of neoplasia consistent with the diagnosis of LFS or LFL.\n   * Protocol 20C0107: Individuals with a clinical diagnosis of a RASopathy, including Costello syndrome, Noonan syndrome, Noonan syndrome with multiple lentigines, Cardiofaciocutaneous syndrome, Legius syndrome, capillary arteriovenous malformation syndrome, or others, are eligible. Published clinical diagnostic criteria exist for most of the clinical RASopathy syndromes and differ by syndrome. It will be uncommon for individuals to have a clinical diagnosis and not have had molecular genetic testing. All individuals considered by the study team to be at risk for a RASopathy who have not had prior genetic testing will have this completed as part of the study. The rare individuals with a clinical diagnosis of a RASopathy who are not found to carry a corresponding pathogenic or likely pathogenic variant in a known RASopathy gene will be considered for exome analysis for identification of potentially novel RASopathy germline variation.\n   * Protocol 11C0034: An individual with histologically-confirmed PPB and\u002For other DICER1-related tumors\n   * Protocol 02C0052: The participants will be affected by an IBMFS, or be members of a family with an IBMFS, and be at risk of being affected or carriers of the syndrome. Except for the rare X-linked recessive disorder (e.g. some dyskeratosis congenita patients), there should be equal numbers of male and female probands and family members. These IBMFS have been reported in most racial and ethnic groups, and thus all such groups will be included. The age range will be from birth to old age (grandparents of probands). The majority of the probands will be children (10-20% will be adults), and their parents and grandparents will be adults. All racial\u002Fethnic groups are eligible.\n   * Protocol 02C0211: Personal medical history of melanoma of an unusual type, pattern, or number diagnosed at any age.\n   * Protocol 78C0039: Family or personal medical history of neoplasia of an unusual type, pattern, or number\n2. Personal or family history of medical condition, malignancy, and\u002For benign neoplasm suggestive of hereditary cancer predisposition being actively investigated in the following CGB study protocol:\n\n   * Protocol 000678: Known or suspected factor(s) predisposing to neoplasia, either genetic and\u002For congenital factors (birth defects, metabolic phenotype, chromosomal anomalies or Mendelian traits associated with tumors), environmental exposure (medications, occupation, radiation, diet, infectious agents, etc.), or unusual demographic features (very young age of onset, multiple tumors, etc.)\n   * Protocol 11C0255: An individual with a sarcoma diagnosed under the age of 45; AND - At least one first-degree relative (parents, brothers, sisters and children) with a cancer of any kind diagnosed under the age of 45; AND - A third family member who is either a first- or second-degree relative (such as grandparents, aunts, uncles, nieces, nephews, and grandchildren) with cancer diagnosed under the age of 45 or having a sarcoma at any age.\n   * Protocol 001109: On referral, persons \\>= 12 years with Fanconi Anemia (FA) primarily from North America will be included. An individual with FA who is 8 -11 years can also be included if they have a history of persistent oral potentially malignant lesion (OPMLs), dysphagia, or other concerning symptoms. Individuals with prior cancer diagnosis are eligible.\n   * Protocol 11C0034: An individual from the general population with one or more of the unique tumors of the types associated with DICER1 including (but not exclusively), PPB, cystic nephroma, ovarian Sertoli-Leydig cell and other sex cordstromal tumors, ocular medulloepithelioma, nasal chondromesenchymal hamartoma, Wilms tumor, embryonal rhabdomyosarcoma, pineoblastoma, pituitary blastoma, ovarian sarcoma, CNS sarcoma and\u002For thyroid cancer - regardless of their family history. Additional DICER1-related neoplasms may be identified in the future, and they will be added to the protocol as needed\n   * Protocol 02C0052: Fanconi anemia: FA patients have relatively specific birth defects, aplastic anemia, increased chromosome breakage in cells cultured with a DNA crosslinking agent such as mitomycin C (MMC) or diepoxybutane (DEB), pathogenic variant(s) in one of the cloned genes (six genes at this time), or assignment to one of the 7 or more complementation groups. Bone marrow failure is NOT required for the diagnosis, and approximately 25% do not have birth defects. FA has been diagnosed from birth to \\>50 years of age. FA Proven = positive chromosome breakage result, and\u002For pathogenic variant(s) in a known FANC gene. Patients in whom FA is suspected but whose chromosome breakage test is negative will still be considered if they have sufficient findings that lead the Principal Investigator to think they may be somatic mosaics and warrant further evaluation. Diamond Blackfan anemia: DBA patients have pure red cell aplasia with reticulocytopenia. Approximately 30% have physical abnormalities, often involving malformations of the thumbs. Approximately 90% are diagnosed within the first year of life. A pathogenic variant in a known DBA gene (RPS19 is currently the only known gene) is diagnostic, but lack of a pathogenic variant does not rule out DBA, since the cloned gene is responsible for only approximately 25% of the disease. Since many cases are sporadic or occur in families with silent carriers, patients without a positive family history will be included. Currently DBA is diagnosed by clinical findings after exclusion of known causes of red cell aplasia. Approximately 90% have elevated red cell adenosine deaminase levels, a finding which is supportive, but not diagnostic, of DBA. Dyskeratosis congenita: DC patients develop dyskeratotic nails, lacy hyperpigmentation of the skin and mucous membrane leukoplakia as they age (the diagnostic clinical triad; two of the three are required for a firm diagnosis). Findings in young patients may be very subtle, and diagnoses are usually made in teenagers or young adults. More than 75% are male. DC patients are often diagnosed without hematologic abnormalities by dermatologists; however, some patients present with aplastic anemia prior to the evolution of the syndrome-related physical features. A pathogenic variant in the DKC1 gene is diagnostic, but normal DKC1 does not exclude DC. The diagnosis is often clinical, after exclusion of FA and other IBMFS. Shwachman Diamond Syndrome: SDS patients have neutropenia, malabsorption and failure to thrive due to exocrine pancreatic insufficiency. The gene has not yet been cloned. Pancreatic insufficiency is documented by direct measurement of pancreatic enzymes, low serum immunoreactive trypsinogen, or elevated fecal fat levels. Neutropenia requires an absolute neutrophil count of \\\u003C1500\u002Fmm3 on multiple occasions. Other causes of malabsorption such as cystic fibrosis, Pearson syndrome, and Johansson-Blizzard syndrome must be excluded. Cystic fibrosis will be excluded in patients who have a positive sweat test performed at an approved CF center. Amegakaryocytic thrombocytopenia: These patients have early onset thrombocytopenia (\\\u003C150,000\u002Fmm3), usually within the first year of life, due to absent, diminished, or abnormal bone marrow megakaryocytes, without antiplatelet antibodies. Physical examination is often normal; in particular, there are no abnormalities of the radial rays. Pathogenic variant(s) in the MPL gene are diagnostic, but normal MPL does not exclude this diagnosis. Thrombocytopenia absent radii: TAR patients have absent radii, usually bilateral, with intact thumbs (in contrast with FA and trisomy 18, where thumbs are absent if radii are absent), and thrombocytopenia at birth. Other radial aplasia syndromes such as Holt-Oram syndrome or VATER syndrome must be excluded. Severe Congenital Neutropenia: Patients with SCN have persistent and noncyclic low absolute neutrophil counts, with more than 2 measurements \\\u003C200\u002Fmm3, and a history of pyogenic infections during the first year of life, and bone marrow maturation arrest at the promyelocyte\u002Fmyelocyte stage. They do not have birth defects, and they usually have normal hemoglobin and platelet counts. They are designated Kostmann Syndrome (KS) only if there is a pattern of autosomal recessive inheritance. Pathogenic variant(s) in the neutrophil elastase gene (ELA2) are supportive of the diagnosis of SCN, but do not distinguish SCN patients from those with cyclic neutropenia, which is milder and not preleukemic. Many of the cases of SCN have been shown to be due to dominant pathogenic variant(s)s in ELA2. Pearson Syndrome: Pearson syndrome consists of malabsorption, neutropenia, alone or with anemia and\u002For thrombocytopenia, and metabolic acidosis. Onset is in infancy or early childhood. The diagnosis is strongly suspected if bone marrow examination reveals vacuoles in myeloid and erythroid progenitors, and ring sideroblasts. Confirmation derives from detection of deletions in mitochondrial DNA, which range from 2 to 8 kb in size, and include the respiratory enzymes. Absence of reports to date of cancer or leukemia in this syndrome may derive from early death due to the metabolic problems. Other bone marrow failure syndromes: There are occasional patients with a pattern of hematologic abnormalities, physical findings, malignancies, or family histories which are not characteristic of the syndromes described above, but which nonetheless suggests that they have a genetic bone marrow failure syndrome. There may be similar cases in the literature, or in the experience of the investigator, which may ultimately lead to assignment of these patients to a known or new syndrome. There are additional bone marrow failure syndromes which are even more rare, such as Revesz, WT, IVIC, radio-ulnar synostosis, ataxia-pancytopenia, etc. Syndromic classification of extremely rare disorders is facilitated if they are collected in one center. Since malignancy is often part of these syndromes, they will be eligible for enrollment in this protocol.\n   * Protocol 02C0211: Known or suspected factor(s) predisposing to melanoma, either genetic or congenital factors (giant congenital nevi, dysplastic nevi, Spitzoid tumors), or unusual demographic features (e.g., very young age of onset, multiple melanomas, previous history of heritable retinoblastoma, Hodgkin's disease, lymphoma, immunodeficiency syndrome, or organ transplant).\n   * Protocol 10CN188: Diagnose with chordoma or related tumor at any age and any primary site.\n   * Protocol 78C0039: Known or suspected factor(s) predisposing to neoplasia, either genetic and\u002For congenital factors (birth defects, metabolic phenotype, chromosomal anomalies or Mendelian traits associated with tumors), environmental exposure (medications, occupation, radiation, diet, infectious agents, etc.), or unusual demographic features (very young age of onset, multiple tumors, etc.). Personal and family medical history must be verified through questionnaires, interviews, and review of pathology slides and medical records. For familial neoplasms, two or more living affected cases among family members are required. The types of familial tumors that we are currently actively accruing include Familial Cancers: bladder, brain, chordoma, lung, nevoid basal cell carcinoma syndrome (NBCC) Familial Benign Neoplasms: meningiomas, neurofibromatosis 2 (bilateral acoustic neurofibromatosis) The types of familial tumors under active accrual and study are predominantly investigator- and hypothesis-driven. This approach permits CGB investigators to remain alert to the opportunities afforded by clusters of rare tumors in families and individuals, and to be more responsive to the dynamic research priorities in cancer genetics.\n3. Personal or family history of a genetic variant in a hereditary cancer predisposition being actively investigated in the following CGB study protocols:\n\n   * Protocol 11C0255: A personal history of a germline TP53 mutation; or, - A first or second- degree relative of a TP53 mutation carrier, regardless of mutation status\n   * Protocol 20C0107: Individuals with a germline variant (P\u002FLP or a variant of uncertain significance but predicted bioinformatically to be damaging) in a RASopathy-associated gene are eligible. These include but are not limited to: BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MAP3K8, MRAS, NRAS, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, SHOC2, SOS1, SPRED1. From herein, we refer to 1) individuals with germline pathogenic variation in a RAS pathway gene AND 2) individuals with a clinical RASopathy diagnosis but in whom a genetic variant has not yet been identified as \"carriers.\" The first member of a family to be identified is termed a \"proband.\"\n   * Protocol 11C0034: An individual with a known or suspected DICER1 disease associated variant.\n   * Protocol 02C0052: An individual with a pathogenic variant(s) in a known FANC gene. Individual with Diamond Blackfan Anemia with a pathogenic variant in a known DBA gene (RPS19). Individuals with Dyskeratosis congenita with a pathogenic variant in the DKC1 gene. Individuals with Amegakaryocytic thrombocytopenia with pathogenic variants) in the MPL gene. Individuals with Severe Congenital Neutropenia with a pathogenic variant(s) in the neutrophil elastase gene (ELA2).\n\nEXCLUSION CRITERIA\n\nWhile this protocol is intended to be used by those meeting the inclusion criteria above, there are no explicit exclusion criteria for this study, since the initiative to complete the eligibility screener survey is at the will of the participant or his or her parent\u002Fguardian\u002FLAR.","ALL","1 Year","99 Years",{"count":19,"type":20},1000,"ESTIMATED","OBSERVATIONAL","Background:\n\nClinical Genetics Branch (CGB) researchers study individuals and populations at high genetic risk of cancer in order to improve our understanding of cancer and to improve cancer care. There are currently 6 open clinical genetics studies at the CGB eligible for this screening process.\n\n* 02C0052: Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes: A Natural History Study (Cancer in Bone Marrow Failure)\n* 11C0255: Clinical, Epidemiologic, and Genetic Studies of Li-Fraumeni Syndrome (Li Fraumeni Syndrome Study)\n* 11C0034: DICER1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study (Pleuropulmonary Blastoma)\n* 02C0211: Clinical, Laboratory, and Epidemiologic Characterization of Individuals and Families at High Risk of Melanoma (Melanoma-Prone Families)\n* 10CN188: Genetic Clues to Chordoma Etiology: A Protocol to Identify Sporadic Chordoma Patients for Studies of Cancer-susceptibility Genes (Sporadic Chordoma Study)\n\nThe following studies have their own study-specific screeners. If you are interested in these studies, please click the links below to fill out the relevant study screener:\n\n* 001109: Defining the Natural History of Squamous Cell Carcinoma in Fanconi anemia (SCC Screening in FA): https:\u002F\u002Fservice.cancer.gov\u002Ffanconi\n* 20C0107: Clinical, Genetic, and Epidemiologic Study of Children and Adults with RASopathies (RASopathies Study): https:\u002F\u002Fservice.cancer.gov\u002Fmyras\n\nObjective:\n\nTo find people to participate in active CGB cancer research studies.\n\nEligibility:\n\nPeople of any age who meet the eligibility criteria for one of the open CGB cancer research studies. You can learn more about the CGB cancer research studies by clicking on the links to the study-specific websites above. This typically involves a personal or family history of certain cancers that are being studied by researchers at CGB.\n\nDesign:\n\nParticipants will fill out a screening questionnaire to determine if they are eligible to participate in one or more CGB clinical genetics studies. The survey asks about personal health history, including cancer; family history; and genetic testing results and takes 15 to 20 minutes.\n\nEach study has its own eligibility criteria. Survey respondents will select which study (or studies) that are interested in participating in, and the relevant study team(s) will review the screener to determine eligibility to participate in the study. Participants who are determined to be eligible for a study based on their screener will be contacted by the respective study team to learn more about the study and to consent to enroll in the study if they choose to do so. Participants who consent to enroll in a study may be asked to provide medical records; samples such as blood, saliva, or other tissues; and to participate in activities such as phone interviews or surveys. They may be invited for evaluations at the clinical center. Every study activity is voluntary. None of the studies provide treatments. Participants may be contacted to consider enrolling in future studies.",[24,25,26,27,28,29,30,31,32,33],"Melanoma","Li-Fraumeni Syndrome","Pulmonary Blastoma","Chordoma","Congenital Bone Marrow Failure Syndromes","Costello Syndrome","Fanconi Anemia","CFC Syndrome (CFCS)","Legius Syndrome","RASopathies",[30,25,35,36,27,37,33,38,39],"Clinical Genetics Branch, NCI","Hereditary Melanoma","DICER-1 syndrome","Cancer","Inherited Bone Marrow Failure Syndromes","NOT_YET_RECRUITING","2026-07-10",{"date":43,"type":44},"2026-07-13","ACTUAL",{"date":46,"type":20},"2026-07-16",{"date":48,"type":20},"2036-01-01",{"name":50,"class":51},"National Cancer Institute (NCI)","NIH",1,{"id":54,"slug":4,"hasResults":10,"nctId":11,"briefTitle":12,"officialTitle":13,"acronym":4,"eligibilityCriteria":14,"healthyVolunteers":10,"sex":15,"minAge":16,"maxAge":17,"enrollmentInfo":55,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":22,"conditions":56,"keywords":57,"overallStatus":40,"whyStopped":4,"lastUpdateSubmitDate":58,"lastUpdatePostDateStruct":59,"startDateStruct":61,"completionDateStruct":63,"leadSponsor":64,"locationsCount":52},"100593350",{"count":19,"type":20},[24,25,26,27,28,29,30,31,32,33],[30,25,35,36,27,37,33,38,39],"2026-07-01",{"date":60,"type":44},"2026-07-02",{"date":62,"type":20},"2026-07-07",{"date":48,"type":20},{"name":50,"class":51},{"id":66,"slug":4,"hasResults":10,"nctId":67,"briefTitle":68,"officialTitle":69,"acronym":4,"eligibilityCriteria":70,"healthyVolunteers":71,"sex":15,"minAge":16,"maxAge":72,"enrollmentInfo":73,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":75,"conditions":76,"keywords":82,"overallStatus":90,"whyStopped":4,"lastUpdateSubmitDate":91,"lastUpdatePostDateStruct":92,"startDateStruct":93,"completionDateStruct":4,"leadSponsor":95,"locationsCount":97},"100143838","NCT01143454","Characterization of Patients With Uncommon Presentations and\u002For Uncommon Diseases Associated With the Cardiovascular System","Cardiovascular Disease Discovery Protocol","* INCLUSION CRITERIA:\n\nEligible subjects may include anyone over 1 year of age who is affected with diseases\u002Fdisorders (index cases), or who is a relative of a person who is affected with diseases\u002Fdisorders. Relatives may include genetic carriers and non-carriers.\n\n* Healthy adult volunteers must be 18 years of age or older, and must agree to have blood or tissue samples studied, and potentially stored for future research.\n* Index cases enrolled in this protocol will have been referred with a known or suspected pathology that may be associated with cardiovascular dysfunction or risk with a suspected atypical presentation, heritable disorder, or genetic predisposition. The investigator with expertise in the presentation of the subject, along with consulting specialists, will review the medical history and may review any medical records that are available of prospective subjects and offer admission based upon the potential to help the individual, to learn from the subject, or to initiate clinical or basic research suggested by the subject s workup.\n\nEXCLUSION CRITERIA:\n\n* Persons of less than 1 year of age or greater than 100 years of age\n* Healthy volunteers unable to give informed consent or who decline to have blood and\u002For tissue studies, or who do not consent to have samples stored for future research may be excluded from this study.\n* Pregnant women\n* Persons who are not fluent in the English language will be excluded from Patient Reported Outcome Questionnaires. Such persons would be unable to properly complete questionnaires that are only valid in the English language.",true,"100 Years",{"count":74,"type":20},5000,"Background:\n\n\\- Researchers are interested in studying individuals who have known or suspected metabolic, inflammatory or genetic diseases that may put them at a high risk for heart diseases or diseases of their blood vessels. Depending on the condition being studied, both affected and nonaffected individuals may be asked to provide blood and other samples and may undergo tests to evaluate the heart, blood vessels and lung function. The testing is tailored to the individual and\u002For condition being studied. Nonaffected individuals may include relatives of affected individuals and healthy nonrelated volunteers.\n\nObjectives:\n\n\\- To study individuals who have or are at risk for cardiovascular diseases, and in some cases their unaffected relatives and healthy volunteers.\n\nEligibility:\n\n\\- Individuals between 1 and 100 years of age. Participants may be healthy volunteers, individuals with cardiovascular diseases, or unaffected relatives of individuals with cardiovascular diseases.\n\nDesign:\n\n* Participants will have some or all of the following tests, as directed by the study researchers:\n* Photography of the face and full body\n* Body measurements\n* Radiography, including chest or limb x-rays\n* Metabolic stress testing to study heart and muscle function\n* Echocardiography to study heart function\n* Magnetic resonance imaging (MRI) studies, including cardiovascular MRI, angiography, and contrast MRI, to study heart function and performance\n* Computed tomography (CT) angiogram to obtain images of the heart and lungs\n* Positron emission tomography (PET) imaging to study possible fat infiltration of the heart\n* Six-minute walk test to study heart, lung, and muscle function and performance\n* Vascular ultrasound to study blood vessel walls\n* Blood, tissue, and other specimens will be collected for research and testing, and will be taken either as part of the clinical study or during surgical procedures.\n* Follow-up studies may be performed under separate research protocols.",[77,78,25,79,80,81],"Metabolic Disease","Obesity","Cardiomyopathy","Atherosclerosis","Inflammatory Disease",[83,84,85,86,87,88,89],"Cardiac Disease","iPS Cells","Cardiac Risk Factors","Cardiac Disease Discovery","Natural History","Heart Disease","Heart Disease Risk","RECRUITING","2026-06-30",{"date":58,"type":44},{"date":94,"type":44},"2010-07-21",{"name":96,"class":51},"National Heart, Lung, and Blood Institute (NHLBI)",3,{"id":99,"slug":4,"hasResults":10,"nctId":100,"briefTitle":101,"officialTitle":102,"acronym":4,"eligibilityCriteria":103,"healthyVolunteers":71,"sex":15,"minAge":4,"maxAge":4,"enrollmentInfo":104,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":105,"conditions":106,"keywords":109,"overallStatus":90,"whyStopped":4,"lastUpdateSubmitDate":114,"lastUpdatePostDateStruct":115,"startDateStruct":117,"completionDateStruct":4,"leadSponsor":119,"locationsCount":120},"100166719","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.",{"count":74,"type":20},"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.",[25,107,108],"Neoplasms","Tp53 Mutations",[110,38,111,112,113],"Tp53","Hereditary","Genetic Testing","Screening","2026-06-18",{"date":116,"type":44},"2026-06-22",{"date":118,"type":44},"2012-01-17",{"name":50,"class":51},2,{"id":122,"slug":4,"hasResults":10,"nctId":123,"briefTitle":124,"officialTitle":124,"acronym":125,"eligibilityCriteria":126,"healthyVolunteers":10,"sex":15,"minAge":4,"maxAge":4,"enrollmentInfo":127,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":129,"conditions":130,"keywords":175,"overallStatus":90,"whyStopped":4,"lastUpdateSubmitDate":185,"lastUpdatePostDateStruct":186,"startDateStruct":188,"completionDateStruct":190,"leadSponsor":192,"locationsCount":52},"100289631","NCT03050268","Familial Investigations of Childhood Cancer Predisposition","SJFAMILY","NOTE: This is a research study and is not meant to be a substitute for clinical genetic testing. Families may never receive results from the study or may receive results many years from the time they enroll. If you are interested in clinical testing please consider seeing a local genetic counselor or other genetics professional. If you have already had clinical genetic testing and meet eligibility criteria for this study as shown below, you may enroll regardless of the results of your clinical genetic testing.\n\nDEFINITION OF FAMILIAR CANCER FOR THIS PROTOCOL:\n\nIn this protocol, the definition of \"Familial Cancer\" is met if any of the following is present:\n\n* An individual with a history of cancer diagnosed under 26 years of age who has at least one first, second or third degree relative with a history of cancer diagnosed under 51 years of age; OR\n* An individual who has been diagnosed with more than one cancer, at least one of which was diagnosed under 26 years of age; OR\n* An individual with a clinical or molecular diagnosis of a known cancer predisposition syndrome; OR\n* An individual with a congenital cancer diagnosed before 6 months of age; OR\n* An individual with a rare pediatric cancer or tumor diagnosed before 26 years of age\n\nº Excluding human papilloma virus-associated cervical cancer and non-melanoma skin cancer occurring in adults.\n\nINCLUSION CRITERIA:\n\n* An individual who meets this protocol's definition of \"Familial Cancer,\" as above.\n* Biologic relatives of an individual meeting this protocol's definition of \"Familial Cancer,\" who are either affected or unaffected by cancer.\n\nEXCLUSION CRITERIA:\n\n* An inability or unwillingness of the research participant or his\u002Fher legally authorized representative (LAR) to provide written informed consent.\n* The participant has received allogeneic bone marrow transplantation and has NO pre-transplant germline (cancer-unaffected) DNA available AND is unwilling to provide a skin sample.",{"count":128,"type":20},1500,"NOTE: This is a research study and is not meant to be a substitute for clinical genetic testing. Families may never receive results from the study or may receive results many years from the time they enroll. If you are interested in clinical testing please consider seeing a local genetic counselor or other genetics professional. If you have already had clinical genetic testing and meet eligibility criteria for this study as shown in the Eligibility Section, you may enroll regardless of the results of your clinical genetic testing.\n\nWhile it is well recognized that hereditary factors contribute to the development of a subset of human cancers, the cause for many cancers remains unknown. The application of next generation sequencing (NGS) technologies has expanded knowledge in the field of hereditary cancer predisposition. Currently, more than 100 cancer predisposing genes have been identified, and it is now estimated that approximately 10% of all cancer patients have an underlying genetic predisposition.\n\nThe purpose of this protocol is to identify novel cancer predisposing genes and\u002For genetic variants. For this study, the investigators will establish a Data Registry linked to a Repository of biological samples. Health information, blood samples and occasionally leftover tumor samples will be collected from individuals with familial cancer. The investigators will use NGS approaches to find changes in genes that may be important in the development of familial cancer. The information gained from this study may provide new and better ways to diagnose and care for people with hereditary cancer.\n\nPRIMARY OBJECTIVE:\n\n* Establish a registry of families with clustering of cancer in which clinical data are linked to a repository of cryopreserved blood cells, germline DNA, and tumor tissues from the proband and other family members.\n\nSECONDARY OBJECTIVE:\n\n* Identify novel cancer predisposing genes and\u002For genetic variants in families with clustering of cancer for which the underlying genetic basis is unknown.",[131,132,133,134,135,136,137,138,139,140,141,142,143,144,30,145,146,147,148,149,150,151,152,25,153,154,155,156,157,158,159,160,161,162,163,164,165,166,167,168,169,170,171,172,173,174],"Acute Leukemia","Adenomatous Polyposis","Adrenocortical Carcinoma","AML","BAP1 Tumor Predisposition Syndrome","Carney Complex","Choroid Plexus Carcinoma","Constitutional Mismatch Repair Deficiency Syndrome","Diamond-Blackfan Anemia","DICER1 Syndrome","Dyskeratosis Congenita","Emberger Syndrome","Familial Acute Myeloid Leukemia","Familial Adenomatous Polyposis","Familial Cancer","Familial Wilms Tumor","Familial Neuroblastoma","GIST","Hereditary Breast and Ovarian Cancer","Hereditary Paraganglioma-Pheochromocytoma Syndrome","Hodgkin Lymphoma","Juvenile Polyposis","Lynch Syndrome","MDS","Melanoma Syndrome","Multiple Endocrine Neoplasia Type 1","Multiple Endocrine Neoplasia Type 2","Neuroblastoma","Neurofibromatosis Type 1","Neurofibromatosis Type II","Nevoid Basal Cell Carcinoma Syndrome","Non Hodgkin Lymphoma","Noonan Syndrome and Other Rasopathy","Overgrowth Syndromes","Pancreatic Cancer","Peutz-Jeghers Syndrome","Pheochromocytoma\u002FParaganglioma","PTEN Hamartoma Tumor Syndrome","Retinoblastoma","Rhabdoid Tumor Predisposition Syndrome","Rhabdomyosarcoma","Rothmund-Thomson Syndrome","Tuberous Sclerosis","Von Hippel-Lindau Disease",[176,177,178,179,180,181,182,183,184],"Familial cancer","Genetic predisposition","Heritable disease","Cancer risk","Genome analysis","Genetic modifiers","Next generation sequencing (NGS)","Genetic counseling","DNA","2026-06-15",{"date":187,"type":44},"2026-06-17",{"date":189,"type":44},"2017-04-06",{"date":191,"type":20},"2037-03-31",{"name":193,"class":194},"St. Jude Children's Research Hospital","OTHER",{"id":196,"slug":4,"hasResults":10,"nctId":197,"briefTitle":198,"officialTitle":199,"acronym":4,"eligibilityCriteria":200,"healthyVolunteers":10,"sex":15,"minAge":4,"maxAge":4,"enrollmentInfo":201,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":203,"conditions":204,"keywords":4,"overallStatus":90,"whyStopped":4,"lastUpdateSubmitDate":205,"lastUpdatePostDateStruct":206,"startDateStruct":208,"completionDateStruct":210,"leadSponsor":212,"locationsCount":52},"100449002","NCT05126810","Willingness to Participate in a Trial Comparing Standard Genetic Counseling Versus Personalized Genetic Counseling","Evaluate Willingness to Participate in a Trial Comparing Standard Genetic Counseling Versus Personalized Genetic Counseling Based on LFSPRO-ShinyApp Data","Inclusion Criteria:\n\n* Individuals age 15 or older OR parent\u002Fguardian of a patient younger than 15 years (if age 15-17, the patient will provide assent and parent\u002Fguardian will provide consent), pregnant women will also be allowed to participate\n* English fluency\n* Receive genetic counseling specifically for TP53 genetic testing and who consent to undergo TP53 genetic testing OR individuals whose genetic testing indicates a TP53 germline mutation\n\nExclusion Criteria:\n\n* Individuals who are non-English speaking\n* Individuals having low suspicion for a TP53 germline mutation during pretest counseling and test negative for a TP53 mutation",{"count":202,"type":20},500,"This study evaluates patients willingness to participate in a trial comparing standard genetic counseling versus personalized genetic counseling. Collecting information from patients may help researchers learn why patients may or may not take part in the future study that compares standard genetic counseling to personalized genetic counseling.",[25],"2026-04-13",{"date":207,"type":44},"2026-04-15",{"date":209,"type":44},"2022-11-03",{"date":211,"type":20},"2027-10-02",{"name":213,"class":194},"M.D. Anderson Cancer Center",{"id":215,"slug":4,"hasResults":10,"nctId":216,"briefTitle":217,"officialTitle":218,"acronym":219,"eligibilityCriteria":220,"healthyVolunteers":10,"sex":15,"minAge":4,"maxAge":4,"enrollmentInfo":221,"targetDuration":222,"studyType":21,"phases":4,"briefSummary":223,"conditions":224,"keywords":229,"overallStatus":90,"whyStopped":4,"lastUpdateSubmitDate":231,"lastUpdatePostDateStruct":232,"startDateStruct":234,"completionDateStruct":236,"leadSponsor":238,"locationsCount":97},"100404078","NCT04541654","Li-Fraumeni & TP53 (LiFT UP): Understanding and Progress","Li-Fraumeni & TP53: Understanding and Progress (LiFT UP)","LiFT_UP","Inclusion Criteria:\n\n* Individuals with a TP53 pathogenic or likely pathogenic variant identified in blood or saliva,\n* Individuals with variants of uncertain significance in TP53 may be eligible at the PI's discretion,\n* Blood relatives of individuals with a TP53 variant, who may be presumed obligate carriers or healthy controls,\n* Individuals who meet Classic or Chompret LFS criteria whether or not they have a TP53 gene variant,\n* Individuals may enroll their deceased relatives in the study.\n* Individuals with a known TP53 variant that is not LFS, but rather ACE, CHIP, or mosaicism.\n* Individuals participating in other LFS studies can still enroll in LiFT UP. Investigators may be collaborators.\n\nExclusion Criteria:\n\n* Individuals who decline to sign consent\n* Individuals who are unable to give consent or assent and are without a designated healthcare proxy",{"count":128,"type":20},"5 Years","The purpose of this research study is to learn more about variants in the TP53 gene both associated with Li-Fraumeni Syndrome (LFS), a hereditary cancer risk condition, and TP53 variants found in the blood for other reasons (e.g. ACE\u002FCHIP and mosaicism).",[25,225,226,227,228],"TP53 Gene Mutation","Hereditary Cancer Syndrome","Clonal Hematopoiesis","Mosaicism",[25,230,226,227,228],"TP53 Gene Mutation (Variant)","2026-03-24",{"date":233,"type":44},"2026-03-27",{"date":235,"type":44},"2020-09-15",{"date":237,"type":20},"2032-12-31",{"name":239,"class":194},"Dana-Farber Cancer Institute",{"id":241,"slug":4,"hasResults":10,"nctId":242,"briefTitle":243,"officialTitle":244,"acronym":245,"eligibilityCriteria":246,"healthyVolunteers":10,"sex":15,"minAge":4,"maxAge":4,"enrollmentInfo":247,"targetDuration":249,"studyType":21,"phases":4,"briefSummary":250,"conditions":251,"keywords":253,"overallStatus":90,"whyStopped":4,"lastUpdateSubmitDate":258,"lastUpdatePostDateStruct":259,"startDateStruct":261,"completionDateStruct":263,"leadSponsor":265,"locationsCount":120},"100437935","NCT04982744","Registry of Li Fraumeni and Li Fraumeni Like Syndromes","Registry of Li Fraumeni and Li Fraumeni Like Syndromes That Collects Clinical, Functional, Genetic, Genealogical, Imaging, Surgical, Treatment, Quality of Life Data. Data is Linked to Patients' Biological Samples, When Available","ReLF","Inclusion Criteria:\n\n* All patients affected by Li Fraumeni or Li Fraumeni Like syndromes\n\nExclusion Criteria:\n\n* Any condition unrelated to Li Fraumeni or Li Fraumeni Like syndromes",{"count":248,"type":20},200,"10 Years","ReLF is a retrospective and prospective registry, finalized for care and research purposes. It is articulated in main sections - strongly related and mutually dependent on each other - corresponding to different data domains: personal information, clinical data, genetic data, genealogical data, surgeries, etc. This approach has been developed to corroborate and integrate data from different resources and aspects of the diseases and to correlate genetic background and phenotypic outcomes, in order to better investigate diseases pathophysiology. Due to legal requirements, institutional directives and organizational issues, we are unable to include individuals residing outside Italy in the registry at this time. We are currently engaged in the preparation of a recruitment process for individuals residing outside Italy.",[25,252],"Li-Fraumeni-Like Syndrome",[254,255,256,257],"Disease Registry","Natural History Study","Genotype-Phenotype Correlation","Disease Evolution","2025-11-17",{"date":260,"type":44},"2025-11-20",{"date":262,"type":44},"2020-07-02",{"date":264,"type":20},"2045-07",{"name":266,"class":194},"Istituto Ortopedico Rizzoli",{"id":268,"slug":4,"hasResults":10,"nctId":269,"briefTitle":270,"officialTitle":271,"acronym":4,"eligibilityCriteria":272,"healthyVolunteers":71,"sex":15,"minAge":4,"maxAge":4,"enrollmentInfo":273,"targetDuration":222,"studyType":21,"phases":4,"briefSummary":275,"conditions":276,"keywords":277,"overallStatus":90,"whyStopped":4,"lastUpdateSubmitDate":280,"lastUpdatePostDateStruct":281,"startDateStruct":283,"completionDateStruct":285,"leadSponsor":287,"locationsCount":120},"100390693","NCT04367246","Li-Fraumeni Syndrome\u002FTP53 Biobank","Clinical and Molecular Studies of Li-Fraumeni Syndrome and TP53-associated Disorders","Inclusion Criteria:\n\nAffected Patient (Group 1)\n\n1. Males or females aged 0 and above.\n2. Confirmed germline TP53 mutation or variant. OR Family history of LFS and clinically managed as a LFS patient. OR Meet LFS diagnostic criteria including Classic, Chompret, and LFL (Birch and Eeles) criteria.\n3. Informed consent for capable participants. OR Parental\u002Flegally authorized representative permission (informed consent) for pediatric participants or subjects with diminished capacity, and if appropriate, assent.\n\nUnaffected Family Member (Group 2)\n\n1. Males or females aged 0 and above.\n2. Biological relative of subjects with germline TP53 mutation or variant (LFS), including first degree (siblings, parents) and second degree (grandparents, aunts, uncles) relatives.\n3. Negative for germline TP53 mutation or variant.\n4. Informed consent for capable participants. OR Parental\u002Flegally authorized representative permission (informed consent) for pediatric participants or subjects with diminished capacity, and if appropriate, assent.\n\nHousehold Member (Group 3)\n\n1. Males or females aged 0 and above.\n2. Household member of subjects with germline TP53 mutation or variant (LFS), sharing a living space (apartment or free-standing home) for at least 6 months prior to study enrollment.\n3. Informed consent for capable participants. OR Parental\u002Flegally authorized representative (LAR) permission (informed consent) for pediatric participants or subjects with diminished capacity, and if appropriate, assent.\n\nExclusion Criteria:\n\n1. Parents\u002FLAR or subjects who, in the opinion of the Investigator, may be non-compliant with study schedules or procedures.\n2. Known pregnancy at the time of study enrollment.\n\nSubjects that do not meet all of the enrollment criteria may not be enrolled. Pregnant women will not be actively enrolled, but if a woman becomes pregnant she will not be removed from the study; sample collection will be held during known pregnancy.",{"count":274,"type":20},300,"Li-Fraumeni Syndrome (LFS) and Li-Fraumeni-like (LFL) Syndrome are cancer predisposition syndromes due to germline aberrations in the TP53 gene. Patients with classical LFS have a lifetime malignancy risk between 80-90%, with 21% of those cancers occurring by the age of 15 years. There are established guidelines for screening patients with LFS that have led to earlier detection and treatment of cancer in this population. There are a number of important issues facing patients identified to have germline TP53 variations. First, with the advent of massively parallel sequencing, increasing numbers of patients are now being identified with a wide range of clinical phenotypes associated with germline TP53 mutations, and the natural history of these patients is less well understood. Second, surveillance for malignancy in LFS and other TP53-associated syndromes involves frequent laboratory and radiologic studies that are imperfect measures of disease onset; therefore, more specific, less invasive biomarker-driven screening methods are needed. Finally, studies to date have not yet identified whether tumors which form in LFS or other germline TP53-associated tumors have unique aberrations or signatures that could be exploited in precision medicine treatment of these patients. In order to study these important issues in LFS, this protocol will establish a TP53 Clinical Database and Biobank. The Investigator plans to use this biobank to study genotype-phenotype correlations in patients with LFS and other germline TP53-associated syndromes, mechanisms of tumor formation, and novel methods of cancer screening in this high risk population.",[25,252],[278,279],"TP53","TP53 Mutation","2025-08-13",{"date":282,"type":44},"2025-08-14",{"date":284,"type":44},"2019-09-24",{"date":286,"type":20},"2029-09-24",{"name":288,"class":194},"Abramson Cancer Center at Penn Medicine",{"id":290,"slug":4,"hasResults":10,"nctId":291,"briefTitle":292,"officialTitle":293,"acronym":294,"eligibilityCriteria":295,"healthyVolunteers":71,"sex":15,"minAge":296,"maxAge":4,"enrollmentInfo":297,"targetDuration":4,"studyType":299,"phases":300,"briefSummary":302,"conditions":303,"keywords":4,"overallStatus":90,"whyStopped":4,"lastUpdateSubmitDate":313,"lastUpdatePostDateStruct":314,"startDateStruct":316,"completionDateStruct":318,"leadSponsor":320,"locationsCount":52},"100570811","NCT06712095","Video Capsule Examination in Patients With Lynch Syndrome","Video Capsule Examination in Patients With Lynch and Other Cancer-predisposition Syndromes - a Proof-of-concept Study for Obtaining Data to Support the Development of Machine Learning Algorithms to Detect Early Cancers","PILLCAM","Inclusion Criteria:\n\n* Patients over the age of 18 years old with no active cancer\n* No previous resection of the colon and\u002For rectum\n* Carriers of a pathogenic\u002Flikely pathogenic variant in any of the following cancer-predisposition genes: Lynch syndrome (MLH1, MSH2, MSH6, PMS2), APC (FAP syndrome); biallelic MUTYH; STK11 (Peutz-Jeghers syndrome); PTEN, CDH1, CHEK2, TP53, BMPR1A and SMAD4 (Juvenile polyposis syndrome)\n* Able to consent to the study and undergo colonoscopy.\n\nExclusion Criteria:\n\n* Extensive surgery which poses a high risk of video-capsule blockage or narrowing of the bowel due to extensive tumour. Extensive surgery implies any removal of large portions of the small or large bowel that might cause a narrowing (stricture) in the digestive tract.\n* Previous irradiation to abdomen or pelvis (risk for small bowel obstruction)\n* Carriers of a variant associated with reduced penetrance (in the view of a geneticist) or a variant of uncertain significance.\n* Patients with a PS of 3 or 4 and\u002For mobility issues\n* Pregnancy\n* Pacemaker or internal electro-medical device (artificial heart valve, cochlear implant or an internal electromedical device).\n* Insulin-dependent diabetes\n* Patients who require deep sedation for colonoscopy","18 Years",{"count":298,"type":20},25,"INTERVENTIONAL",[301],"NA","Surveillance for colorectal cancer (CRC) in patients predisposed to develop CRC during their lifetime has been impacted by access to colonoscopy suites and endoscopy specialists in the past couple of years. An alternative method, namely the colon capsule, has been proposed, however this investigation is time consuming for the clinician and the images require up to one hour (30-60 minutes) reading to issue a result. The investigators propose to obtain images from paired colonoscopies and colon capsules with the purpose of developing an AI algorithm which could aid the clinicians in reading the colon and expand access to this investigation.\n\nThe main aim of the study is to determine whether it is possible to obtain usable paired images from patients with Lynch and other cancer predisposition syndromes. This will depend on the willingness of the patients to take part in the study and the technical ability of obtaining data from paired images of colonoscopies and colon capsule.\n\nAt recruitment, participants will undergo a colon capsule investigation, followed by a routine colonoscopy as per their normal standard of care. Paired endoscopic images from colonoscopies and colon capsules will be collected and anonymised data will be accessed by the bioinformatician for analysis.\n\nIf the study will be successful in reaching the primary endpoint, further trials will be opened, allowing for a larger population to be included and to obtain more robust data, which eventually can lead to validated AI algorithms and application of computer-aided video-capsules examination as a screening tool in at-risk population.",[153,304,305,306,307,308,309,310,311,312],"Li Fraumeni Syndrome","PTEN Hamartoma Syndrome","FAP","MUTYH Biallelic Mutation","STK11 Mutation","CDH1 Gene Mutation","CHEK2 Gene Mutation","BMPR1A Gene Mutation","SMAD4 Gene Mutation","2024-12-03",{"date":315,"type":44},"2024-12-05",{"date":317,"type":44},"2024-03-04",{"date":319,"type":20},"2025-10-31",{"name":321,"class":194},"Royal Marsden NHS Foundation Trust",{"id":323,"slug":4,"hasResults":10,"nctId":324,"briefTitle":325,"officialTitle":325,"acronym":4,"eligibilityCriteria":326,"healthyVolunteers":71,"sex":15,"minAge":296,"maxAge":4,"enrollmentInfo":327,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":329,"conditions":330,"keywords":4,"overallStatus":90,"whyStopped":4,"lastUpdateSubmitDate":349,"lastUpdatePostDateStruct":350,"startDateStruct":352,"completionDateStruct":354,"leadSponsor":356,"locationsCount":97},"100556321","NCT06523582","Genetic Bases of Neuroendocrine Neoplasms in Mexican Patients","Inclusion Criteria:\n\nAdult patients with a new or previous clinical diagnosis of any of the following conditions:\n\n* Isolated NENs with sporadic presentation, including bronchopulmonary NENs, gastrointestinal NENs, medullary thyroid carcinoma, pancreatic NENs, paragangliomas, pheochromocytomas, pituitary neuroendocrine tumors, and primary hyperparathyroidism.\n* Familial isolated NENs, including familial isolated pituitary adenoma, familial pheochromocytomas and paragangliomas, familial primary hyperparathyroidism, familial gastrointestinal stromal tumors and X-linked acrogigantism.\n* Clinical syndromes encompassing NENs, with familial or sporadic presentation, including Carney complex, Carney-Stratakis syndrome, Carney triad, Cowden syndrome, DICER1 syndrome, Li-Fraumeni syndrome, Lynch syndrome, multiple endocrine neoplasia type 1, multiple endocrine neoplasia type 2, multiple endocrine neoplasia type 4, neurofibromatosis type 1, Pacak-Zhuang syndrome, paraganglioma, pheochromocytoma and pituitary adenoma syndrome, tuberous sclerosis complex, Von Hippel Lindau syndrome.\n\nExclusion criteria:\n\n* Age \\\u003C18 years.\n* Refusal to give informed consent.",{"count":328,"type":20},750,"Neuroendocrine neoplasms (NENs) are a heterogeneous group of lesions derived from cells with the ability to produce hormones that may arise from multiple different organs. Their clinical behavior is quite variable, encompassing both benign lesions and aggressive tumors that invade surrounding and\u002For distant structures. NENs may also cause serious morbidity due to hormone oversecretion. NENs are among the most frequently inherited human tumors, presenting either isolated or as part of syndromes in which a single patient or family develops multiple tumors. There are also non-inherited changes in the genetic information of the tumor cells that are potential targets for treatment. Both inherited and non-inherited DNA defects can be identified using modern routine genetic tests which, unfortunately, are not widely available in Mexico.\n\nThis project seeks to uncover the genetic defects causing NENs in a large cohort of Mexican patients, using three different methods for genetic testing. Adult individuals with various types of NENs from two reference hospitals in Mexico City will be invited to participate. After completing informed consent, blood and, if possible, tissue samples will be obtained from all participants. Clinical details, laboratory results, imaging studies, and histopathological data at disease presentation will be retrieved.\n\nAn initial screening will be performed by analyzing changes in the sequence of multiple genes that have been associated with the occurrence of NENs. In cases with negative screening, a specific method to assess changes in the number of copies of the same genes will also be employed. Finally, sequences of all DNA regions encoding information required to make proteins will be obtained in selected cases. Analyses will be carried out in blood and, if available, also in tumor tissue samples from study participants. Screening of additional family members will be offered.\n\nThis project will accurately describe the repertoire of specific defects causing NENs in the study population, and will likely uncover and characterize novel genetic associations. The results will contribute for a better understanding of the alterations within and outside known driver genes that shape syndromic presentations, tumor behaviors, and inheritance patterns in individuals with NENs. These data will contribute to improve the information on the molecular bases of NENs, including alterations that can be used as therapeutic targets.",[331,332,333,334,335,336,337,338,339,340,341,156,157,342,136,343,344,345,140,25,153,174,346,347,348,173],"Neuroendocrine Neoplasm","Neuroendocrine Neoplasm of Gastrointestinal Tract","Neuroendocrine Neoplasm of Lung","Thymic Neuroendocrine Neoplasm","Neuroendocrine Tumor of Pancreas","Gastrointestinal Stromal Tumors","Medullary Thyroid Cancer","Paraganglioma","Pheochromocytoma","Primary Hyperparathyroidism","Pituitary Tumor","Multiple Endocrine Neoplasia Type 4","Carney Stratakis Dyad","Carney Triad","Cowden Syndrome","Familial Isolated Pituitary Adenoma","X-Linked Acrogigantism","Neurofibromatosis 1","2024-07-22",{"date":351,"type":44},"2024-07-26",{"date":353,"type":44},"2022-08-03",{"date":355,"type":20},"2037-03-01",{"name":357,"class":194},"Universidad Nacional Autonoma de Mexico",{"id":359,"slug":4,"hasResults":10,"nctId":360,"briefTitle":361,"officialTitle":362,"acronym":4,"eligibilityCriteria":363,"healthyVolunteers":10,"sex":15,"minAge":4,"maxAge":296,"enrollmentInfo":364,"targetDuration":4,"studyType":299,"phases":366,"briefSummary":368,"conditions":369,"keywords":372,"overallStatus":90,"whyStopped":4,"lastUpdateSubmitDate":374,"lastUpdatePostDateStruct":375,"startDateStruct":377,"completionDateStruct":379,"leadSponsor":381,"locationsCount":52},"100522854","NCT06088030","Arsenic Trioxide Combined With Chemotherapy for the Treatment of p53-mutated Pediatric Cancer","Clinical Research on Efficacy and Safety of Arsenic Trioxide Combined With Chemotherapy in p53-mutated Pediatric Cancer Patients：A Prospective，Single-arm, Multi-center Study","Inclusion Criteria:\n\n1. Pathological diagnosis basis of malignant tumor；\n2. Patients not more than 18 years old;\n3. Patient has either germline or somatic p53 mutations, which was shown to be partially\u002Fcompletely restored to function by ATO in in vitro experiments (http:\u002F\u002Fwww.rescuep53.net);\n4. There are measurable lesions;\n5. Guardians agreed and signed informed consent.\n\nExclusion Criteria:\n\nPatients with one or more critical organs failure such as heart, brain, kidney failure.",{"count":365,"type":20},50,[367],"PHASE2","This prospective, single-arm, multi-center clinical trial aims to explore and evaluate the efficacy and safety of arsenic trioxide combined with chemotherapy for pediatric cancer with p53 mutation.",[370,25,371],"Pediatric Cancer","p53 Mutations",[373],"Arsenic Trioxide","2024-01-02",{"date":376,"type":44},"2024-01-03",{"date":378,"type":44},"2023-12-13",{"date":380,"type":20},"2031-12-14",{"name":382,"class":194},"Yang Li",""]