[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"hereditary-cancer-syndrome\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:hereditary-cancer-syndrome":28},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,6,0,[8,42,106,135,167,190],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":16,"sex":17,"minAge":18,"maxAge":4,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":23,"briefSummary":25,"conditions":26,"keywords":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":30,"lastUpdatePostDateStruct":31,"startDateStruct":34,"completionDateStruct":36,"leadSponsor":38,"locationsCount":41},"100482495","chatbot-to-maximize-hereditary-cancer-genetic-risk-assessment-100482495",false,"NCT05562778","Chatbot to Maximize Hereditary Cancer Genetic Risk Assessment","Evaluation of a Chatbot to Maximize Hereditary Cancer Genetic Risk Assessment in an Underserved Gynecology Population","Inclusion Criteria:\n\n* 8 years of age or older.\n* Scheduled for a New Patient appointment in the gynecology clinic. Speaks and reads in English.\n* Access to a telephone with texting capacity.\n* Has not had prior genetic testing for hereditary cancer syndromes.\n\nExclusion Criteria:\n\n* Under 18 years of age\n* Has had previous genetic testing for hereditary cancer syndromes\n* Does not read\u002Fspeak in English\n* Does not have access to a phone with texting capabilities",true,"ALL","18 Years",{"count":20,"type":21},150,"ESTIMATED","INTERVENTIONAL",[24],"NA","In this study, the investigators aim to compare a mobile health platform, known as a 'chatbot,' that leverages artificial intelligence and natural language processing to scale communication, to 'usual care' that patients would receive. This comparison will enable the investigators to determine if the chatbot system can improve rates of recommendation for genetic testing among patients at elevated risk of harboring a familial cancer syndrome in an all-Medicaid gynecology clinic. Furthermore, the investigators aim to evaluate facilitators of inequity in regard to patient access to and utilization of genetic testing services.",[27,28],"Gynecologic Cancer","Hereditary Cancer Syndrome","RECRUITING","2026-06-18",{"date":32,"type":33},"2026-06-23","ACTUAL",{"date":35,"type":33},"2023-01-15",{"date":37,"type":21},"2027-12",{"name":39,"class":40},"Weill Medical College of Cornell University","OTHER",4,{"id":43,"slug":44,"hasResults":11,"nctId":45,"briefTitle":46,"officialTitle":47,"acronym":48,"eligibilityCriteria":49,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":4,"enrollmentInfo":50,"targetDuration":4,"studyType":52,"phases":4,"briefSummary":53,"conditions":54,"keywords":76,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":96,"lastUpdatePostDateStruct":97,"startDateStruct":99,"completionDateStruct":101,"leadSponsor":103,"locationsCount":105},"100570529","lynch-syndrome-x-talk-of-enteral-mucosa-with-immune-system-100570529","NCT06708429","Lynch Syndrome X-Talk of Enteral Mucosa With Immune System","Impact of Immune-surveillance on the Development of Colorectal Cancer in Patients With Lynch Syndrome","LYNX-EYE","Inclusion Criteria (for participants with Lynch syndrome):\n\n* Age ≥18 years\n* All sexes eligible\n* Established diagnosis of Lynch syndrome performed as part of clinical practice, with a germline pathogenic\u002Flikely pathogenic variant in one of the following genes: MLH1, MSH2, MSH6, PMS2, and EpCAM\n* Subjects with Lynch syndrome undergoing surveillance gastrointestinal endoscopy and\u002For surgery according to clinical practice\n* Fertile patients (both males and females) are eligible\n* Lactating women are eligible\n\nInclusion Criteria (for participants without Lynch syndrome):\n\n* Age ≥18 years\n* All sexes eligible\n* Patients with sporadic colorectal lesions, including colorectal cancer and colorectal adenomas\n* Healthy controls without colorectal cancer or adenomas undergoing lower gastrointestinal endoscopy for abdominal pain\n* PREMM5 \\\u003C 2.5 \\[PREMM5 is an online, free-to-use, clinical prediction algorithm that estimates the cumulative probability of an individual carrying a germline mutation in the mismatch repair genes responsible for Lynch syndrome\\].\n\nExclusion Criteria (for participants with or without Lynch syndrome):\n\n* Age \\\u003C 18 years;\n* Diseases that are known to predispose to colorectal cancer (personal past or recent history of inflammatory bowel disease);\n* Patients unable\u002Funwilling to provide consent;\n* Pregnancy",{"count":51,"type":21},300,"OBSERVATIONAL","Lynch syndrome (OMIM #120435) is the most common dominantly inherited colorectal cancer syndrome with an estimated prevalence of 1:270 individuals. It increases the lifetime risk of colorectal and endometrial cancer primarily, but it is associated with a high risk of other cancers (pancreas, stomach, ovarian, central nervous system, skin, among others). It is caused by a germline mutation in one of four DNA mismatch repair genes or a terminal deletion of the MSH2-adjacent gene EpCAM.\n\nDespite adherence to cancer surveillance programs, many patients still develop colorectal cancer and endometrial cancer. The Prospective Lynch Syndrome Database (PLSD) suggests that more frequent surveillance intervals do not significantly improve cancer risk reduction. The PLSD also revealed that the incidence of colorectal cancer in MLH1 and MSH2 carriers was even higher than previously expected, reaching as high as 41-36% among MLH1 carriers, regardless of ethnic background. The development of colorectal cancer despite surveillance is an unresolved question. Therefore, there is an unmet need for effective cancer prevention strategies.",[55,56,57,58,59,60,28,61,62,63,64,65,66,67,68,69,70,71,72,73,74,75],"Lynch Syndrome","Lynch Syndrome I","Lynch Syndrome II","Lynch Syndrome I (Site-specific Colonic Cancer)","HNPCC","HNPCC Gene Mutation","Hereditary Cancer","MLH1 Gene Mutation","MLH1 Gene Deletion+Duplication","MLH1 Loss of Expression","MLH1 Gene Inactivation","MSH2 Gene Mutation","MSH2 Gene Deletion+Duplication","MSH2 Loss of Expression","MSH2 Gene Inactivation","MSH6 Gene Mutation","MSH6 Loss of Expression","MSH6 Gene Inactivation","PMS2 Gene Mutation","PMS2 Gene Inactivation","PMS2 Loss of Expression",[77,78,79,80,81,82,83,84,85,86,87,88,89,90,91,92,93,94,95],"Colorectal cancer","Endometrial cancer","Lynch syndrome-associated cancer","Surveillance","Cancer surveillance","Immune profile","Immune escape","Mismatch repair deficiency","Microbiota","Liquid biopsy","MicroRNA","Transcriptomic","Frame shift peptides","MLH1","MSH2","EpCAM","MSH6","PMS2","Hair matrix","2026-04-21",{"date":98,"type":33},"2026-04-24",{"date":100,"type":33},"2023-06-01",{"date":102,"type":21},"2034-06-01",{"name":104,"class":40},"San Raffaele University",5,{"id":107,"slug":108,"hasResults":11,"nctId":109,"briefTitle":110,"officialTitle":111,"acronym":112,"eligibilityCriteria":113,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":114,"targetDuration":116,"studyType":52,"phases":4,"briefSummary":117,"conditions":118,"keywords":123,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":125,"lastUpdatePostDateStruct":126,"startDateStruct":128,"completionDateStruct":130,"leadSponsor":132,"locationsCount":134},"100404078","li-fraumeni--tp53-lift-up-understanding-and-progress-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":115,"type":21},1500,"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).",[119,120,28,121,122],"Li-Fraumeni Syndrome","TP53 Gene Mutation","Clonal Hematopoiesis","Mosaicism",[119,124,28,121,122],"TP53 Gene Mutation (Variant)","2026-03-24",{"date":127,"type":33},"2026-03-27",{"date":129,"type":33},"2020-09-15",{"date":131,"type":21},"2032-12-31",{"name":133,"class":40},"Dana-Farber Cancer Institute",3,{"id":136,"slug":137,"hasResults":11,"nctId":138,"briefTitle":139,"officialTitle":139,"acronym":140,"eligibilityCriteria":141,"healthyVolunteers":16,"sex":142,"minAge":18,"maxAge":143,"enrollmentInfo":144,"targetDuration":4,"studyType":22,"phases":146,"briefSummary":147,"conditions":148,"keywords":149,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":157,"lastUpdatePostDateStruct":158,"startDateStruct":160,"completionDateStruct":162,"leadSponsor":164,"locationsCount":166},"100607939","feasibility-trial-of-combination-of-obstetrical-carrier-screening-and-hereditary-cancer-screening-100607939","NCT07195071","Feasibility Trial of Combination of Obstetrical Carrier Screening and Hereditary Cancer Screening","FOCUS","Inclusion criteria:\n\n* Age: 18 years - 55 years\n* Patients receiving obstetrical-related care at a CUMC-affiliated enrollment site\n* Patients who have elected to undergo OCS with the CUMC-affiliated obstetrics provider\n* Patients with prior OCS but planned to repeat OCS are eligible\n* Patients can speak and read in English or Spanish\n\nExclusion criteria:\n\n* Patients who have previously completed a multigene hereditary cancer syndrome panel\n* Patients that have a hematologic cancer or hematologic pre-cancer\n* Patients who have a history of an autologous bone marrow transplant","FEMALE","55 Years",{"count":145,"type":21},1000,[24],"The investigators hypothesize that preconception and pregnancy may be a feasible and effective time to offer inherited cancer risk screening. This study will assess interest in cancer genetic testing among patients receiving routine prenatal care or preconception care. The goal is to evaluate the acceptability of hereditary cancer testing when offered alongside standard prenatal genetic screening. The study will also explore whether universal screening in this population could support early cancer prevention",[28],[150,151,152,153,154,155,156],"obstetrical carrier screening","Pregnant women","prenatal screening","carrier screening","genetic testing","hereditary cancer","hereditary cancer genetic testing","2026-02-16",{"date":159,"type":33},"2026-02-18",{"date":161,"type":33},"2026-02-12",{"date":163,"type":21},"2028-12-31",{"name":165,"class":40},"Columbia University",1,{"id":168,"slug":169,"hasResults":11,"nctId":170,"briefTitle":171,"officialTitle":172,"acronym":173,"eligibilityCriteria":174,"healthyVolunteers":11,"sex":17,"minAge":175,"maxAge":4,"enrollmentInfo":176,"targetDuration":4,"studyType":22,"phases":178,"briefSummary":179,"conditions":180,"keywords":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":181,"lastUpdatePostDateStruct":182,"startDateStruct":184,"completionDateStruct":186,"leadSponsor":188,"locationsCount":166},"100490341","implementation-of-population-cancer-genetic-services-in-federally-qualified-health-centers-fqhc-100490341","NCT05664867","Implementation of Population Cancer Genetic Services in Federally Qualified Health Centers (FQHC)","Developing and Optimizing Best Practice Solutions for Implementation of Population Based Cancer Genetic Services in Federally Qualified Health Centers","TestMiGenes","Aim 1 and 2 Inclusion Criteria for patients\n\n1. Adults age 25+\n2. English speaking\n3. Identified as eligible for cancer genetic testing for a hereditary breast or colon cancer syndrome (e.g., BRCA, Lynch or familial polyposis syndrome) as defined by NCCN criteria45-46\n4. Screened positive and agreed to have study staff contact them in the future to participate in virtual\u002Ftelephone interviews about their experiences with cancer genetics services.\n5. Patient receiving care from one of the 4 Federally Qualified Health Center clinics enrolled in the clinical trial\n\nExclusion Criteria:\n\n1. Did not meet the inclusion criteria\n2. Did not screen positive on HCRA and\u002F or did not agree to have study staff contact them in the future to participate in virtual\u002Ftelephone interviews about their experiences with cancer genetics services.\n3. Not a patient receiving care from the one of the clinics enrolled in the clincial trial\n\nAim 2\n\nInclusion Criteria for Providers\u002FStaff:\n\n1. Provider or staff member at one of the 4 clinics participating in the clinical trial\n2. English speaking\n\nExclusion Criteria:\n\n1\\. Does not meet inclusion criteria above","25 Years",{"count":177,"type":21},80,[24],"The goal of this clinical trial is for researchers to compare the effectiveness of a mainstreamed model of genetic testing (MGT) with an enhanced standard of care model (SOC+) on the uptake of genetic testing among at-risk patients in an urban Federally Qualified Health Center (primary care) setting using a hybrid-effectiveness study design.\n\nAim 1 is to compare the effectiveness of MGT and SOC+ interventions on the uptake of genetic testing among patients receiving primary care in an urban federally qualified health center (FQHC) system using a randomized trial study design. The hypothesis is that the uptake of testing will be higher among patients receiving services through the MGT compared with the SOC+ model.\n\nAim 2 is to evaluate the implementation outcomes (acceptability, feasibility and sustainability) and the barriers and facilitators of cancer genetic service delivery approaches within primary care at FQHCs via qualitative interviews with patients, primary care providers and clinic staff, and organizational leaders, guided by the Explore, Prepare, Implement, Sustain (EPIS) implementation framework.\n\nThe study will take place at four community health clinics that are part of a Federally Qualified Health Center (FQHC) network in Chicago. Each clinic will use one of two ways of providing cancer genetic services: an enhanced standard of care model that includes patient navigation support (SOC+), or a mainstream genetic testing model (MGT) in which primary care providers offer testing directly. Information such as patients' demographic characteristics, referrals for genetic counseling, completion of genetic testing, and how long it takes to complete testing will be collected from clinic records. Patients, healthcare providers, and clinic staff will also be invited to take part in interviews to share their experiences and perspectives on how each model worked in practice.",[28],"2026-01-12",{"date":183,"type":33},"2026-01-14",{"date":185,"type":33},"2022-08-01",{"date":187,"type":21},"2027-06",{"name":189,"class":40},"University of Illinois at Chicago",{"id":191,"slug":192,"hasResults":11,"nctId":193,"briefTitle":194,"officialTitle":195,"acronym":196,"eligibilityCriteria":197,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":198,"enrollmentInfo":199,"targetDuration":4,"studyType":52,"phases":4,"briefSummary":200,"conditions":201,"keywords":202,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":212,"lastUpdatePostDateStruct":213,"startDateStruct":215,"completionDateStruct":217,"leadSponsor":219,"locationsCount":221},"100571929","cfdna-in-hereditary-and-high-risk-malignancies-2-100571929","NCT06726642","CfDNA in Hereditary And High-risk Malignancies 2","CfDNA in Hereditary And High-risk Malignancies (CHARM) 2: Evaluating the Performance of a cfDNA Blood Test for Early Cancer Detection","CHARM2","Inclusion Criteria:\n\n* Patients with a confirmed diagnosis of hereditary breast and ovarian cancer (HBOC), Lynch Syndrome (LS), Neurofibromatosis type I (NF1), Li-Fraumeni Syndrome (LFS), PALB2, and Hereditary Diffuse Gastric Cancer (HDGC), (i.e., patients with an identified pathogenic variant in the respective cancer predisposition gene, or patients with uninformative genetic testing but with a family history suggestive of the cancer predisposition syndrome).\n* Patients must be receiving standard-of-care clinical assessment for cancer by a managing physician under a provincial screening program or cancer surveillance protocol.\n* All patients must have signed and dated an informed consent form for this study.\n\nExclusion Criteria:\n\n* Patients must not have a personal history of cancer diagnosed and treated within 3 years prior to the expected first sample collection date for this study. If a patient has a personal history of cancer, treatment must have been completed successfully at least 3 years prior to first study sample collection.\n* Patients diagnosed more than 3 years prior to the expected first sample collection date, but never been treated for the cancer.\n* Patients undergoing investigations for a clinical suspicion of cancer.\n* Patients who are not able to comply with the protocol (i.e., tri-annual blood sample collection if randomized into the experimental cohort).","90 Years",{"count":145,"type":21},"The goal of this study is to understand the performance of an experimental blood test that aims to detect early tumors in patients with hereditary cancer syndromes. If this new blood test is accurate, it could be used to screen patients for cancer and allow for earlier cancer detection. The study will compare cancer detection rates between those receiving the new blood test and those receiving standard care, assess if the test leads to earlier cancer diagnosis, and evaluate its impact on patient outcomes. The study will also use questionnaires and interviews to understand how patients feel about the blood test, its incorporation into routine medical care, and perceptions of the medical value of test results. This research could lead to more effective and less invasive cancer screening for high-risk individuals.",[28],[203,204,205,206,207,55,208,86,209,210,211],"cfDNA","cell-free DNA","Hereditary cancer syndrome","BRCA1","BRCA2","Hereditary breast and ovarian cancer (HBOC)","Circulating tumor DNA","Hereditary Diffuse Gastric Cancer (HDGC)","Li-Fraumeni syndrome","2025-12-08",{"date":214,"type":33},"2025-12-16",{"date":216,"type":33},"2024-04-19",{"date":218,"type":21},"2031-12",{"name":220,"class":40},"University Health Network, Toronto",8]