[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"cancer-gene-mutation\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:cancer-gene-mutation":27},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,49,83],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":4,"enrollmentInfo":19,"targetDuration":22,"studyType":23,"phases":4,"briefSummary":24,"conditions":25,"keywords":31,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":38,"lastUpdatePostDateStruct":39,"startDateStruct":42,"completionDateStruct":44,"leadSponsor":46,"locationsCount":5},"100516735","interogating-cancer-for-etiology-prevention-and-therapy-navigation-100516735",false,"NCT06008392","INTERogating Cancer for Etiology, Prevention and Therapy Navigation","INTERogating Cancer for Etiology, Prevention and Therapy Navigation (INTERCEPTioN)","INTERCEPTioN","Inclusion Criteria:\n\nGROUP A: Germline and Somatic Testing\n\n* Has Mayo Clinic medical record number\n* Confirmed cancer diagnosis\n* Germline and\u002For somatic tumor\u002Fblood testing has been ordered by the clinical provider (or clinical delegate)\n* Participant aware of cancer diagnosis\n* Able to provide informed consent\n* ≥ 18 years old\n* Ability to provide blood, saliva, bone marrow aspirate or hair follicle sample\n* Ability to provide archived tissue, if somatic testing has not already been completed\n\n  * Note: if tissue unavailable participant may still enroll onto the study for the germline collection, or vice versa, if germline has already been completed may still enroll for somatic tissue\u002Fblood testing.\n\nGROUP B: Germline testing only:\n\n* Has Mayo Clinic medical record number\n* Confirmed cancer diagnosis\n* Germline testing has been ordered by the clinical provider (or clinical delegate)\n* Participant aware of cancer diagnosis\n* Able to provide informed consent\n* ≥ 18 years old\n* Ability to provide blood, saliva, or hair follicle sample\n\nGROUP C: Somatic tumor testing only:\n\n* Has Mayo Clinic medical record number,\n* Confirmed cancer diagnosis,\n* Somatic tumor\u002Fblood testing has been ordered by the clinical provider (or clinical delegate)\n* Participant aware of cancer diagnosis,\n* Able to provide informed consent,\n* ≥ 18 years old\n* Ability to provide archived tissue or blood for somatic tumor genomic profiling, if not already completed.\n\nGroup D: Clinical standard of care germline testing via genetic counselor:\n\n* Has Mayo Clinic medical record number,\n* Standard of care clinical visit with genetic counselor\n* Confirmed cancer diagnosis,\n* Germline testing has been ordered by the clinical provider (or clinical delegate)\n* Participant aware of cancer diagnosis,\n* Able to provide informed consent,\n* ≥ 18 years old\n* Ability to provide blood, saliva, or hair follicle sample\n\nGroup E: Previous Enrollment in IRB #24-005734, 24-000609, 25-000815, 23-001689, or 24-004810:\n\n* Enrolled in any of the following studies: IRB #24-005734, 24-000609, 25-000815, 23-001689, or 24-004810\n* Completed Riskguard, OncoExtra, Caris Assure, or Caris MI Profile or any combination of these tests.\n* Has Mayo Clinic medical record number,\n* Confirmed cancer diagnosis,\n* Participant aware of cancer diagnosis\n* Able to provide informed consent,\n* ≥ 18 years old\n\nExclusion Criteria:\n\nNote: Women who are pregnant or planning to become pregnant can take part in this study.\n\nGROUP A: Germline and Somatic testing\n\n* Individuals who have situations that would limit compliance with the study requirements\n* Institutionalized (i.e. Federal Medical Prison)\n\nGROUP B: Germline testing only\n\n* Individuals who have situations that would limit compliance with the study requirements\n* Institutionalized (i.e. Federal Medical Prison)\n* Prior germline genetic testing with a 100+ multi-gene panel within the last 1 year of enrollment\n\nGroup C: Somatic tumor testing only:\n\n* Individuals who have situations that would limit compliance with the study requirements,\n* Institutionalized (i.e. Federal Medical Prison),\n\nGroup D: Clinical standard of care germline testing via genetic counselor:\n\n* Individuals who have situations that would limit compliance with the study requirements,\n* Institutionalized (i.e. Federal Medical Prison)\n\nGroup E: Previous Enrollment in IRB #24-005734, 24-000609, 25-000815, 23-001689, or 24-004810:\n\n* Individuals who have situations that would limit compliance with the study requirements,\n* Institutionalized (i.e. Federal Medical Prison)","ALL","18 Years",{"count":20,"type":21},500,"ESTIMATED","50 Years","OBSERVATIONAL","This study is being done to identify markers and causes of cancer by analyzing patient's DNA (i.e., genetic material), RNA, plasma, tissues, or other samples that could be informative for patients with cancer. Cancer genetic testing is a series of tests that finds specific changes in cancer cells and normal cells in the body. Researchers may request to access these data as they explore how to better prevent, screen, or treat cancer. This study is also being done to create a biobank (library) of samples and information to learn more about treating cancer. Discovery of genetic variants in patients with cancer could result in opportunities for cancer prevention, earlier diagnosis or better therapy for cancer.",[26,27,28,29,30],"Cancer","Cancer Gene Mutation","PAN Gene Mutation","Hematopoietic and Lymphoid System Neoplasm","Malignant Solid Neoplasm",[32,33,34,35,36],"Whole Exome Sequencing (WES)","Whole Genome Sequencing (WGS)","Genetic Testing","Genetic Counseling","Genomics","RECRUITING","2026-04-06",{"date":40,"type":41},"2026-04-07","ACTUAL",{"date":43,"type":41},"2023-10-12",{"date":45,"type":21},"2033-09",{"name":47,"class":48},"Mayo Clinic","OTHER",{"id":50,"slug":51,"hasResults":11,"nctId":52,"briefTitle":53,"officialTitle":53,"acronym":54,"eligibilityCriteria":55,"healthyVolunteers":56,"sex":57,"minAge":18,"maxAge":4,"enrollmentInfo":58,"targetDuration":4,"studyType":60,"phases":61,"briefSummary":63,"conditions":64,"keywords":67,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":73,"lastUpdatePostDateStruct":74,"startDateStruct":76,"completionDateStruct":78,"leadSponsor":80,"locationsCount":82},"100631296","population-based-germline-testing-for-early-detection-and-prevention-of-cancer-100631296","NCT07498829","Population Based Germline Testing for Early Detection and Prevention of Cancer","PROTECT-C","Inclusion Criteria:\n\n* Women, trans men, and non-binary people with female reproductive organs\n* ≥18 years at consent\n\nExclusion Criteria:\n\n* Individuals who have previously undergone genetic testing for one or more of the following CSGs: BRCA1, BRCA2, PALB2, RAD51C, RAD51D, BRIP1, MLH1, MSH2, MSH6\n* One or more first- or second-degree relative with a PV in any of above CSGs\n* Inability to provide informed consent",true,"FEMALE",{"count":59,"type":21},6000,"INTERVENTIONAL",[62],"NA","PROTECT-C is a research study offering genetic testing to people to see whether they have a genetic change that increases their risk of breast, ovary, bowel, and\u002For womb cancer. This is regardless of whether they or their families have had cancer.\n\nBreast, ovary, bowel, and womb cancers make up half of all cancers in women. Around 15-20% (15 to 20 in 100 cases) of ovary and 3-4% (3 to 4 in 100 cases) of breast, womb, and bowel cancers are linked to cancer genes and may be prevented. People with a genetic change that puts them at increased risk of any of these cancers have ways to help them manage their risk through the NHS. This may include screening to find cancers earlier when they are easier to treat, and surgery or medication to prevent cancers from developing. This can save lives.\n\nCurrently, genetic testing is only available on the NHS to people who meet certain criteria. For example, those who have had certain cancers, have a strong family history of cancer, or those with Jewish ancestry. But many people may not have a strong family history or meet NHS testing criteria. This means that this system of testing misses 50% to 80% of people (50 to 80 in 100 people) who have a genetic change. It is thought that only around 3 in 100 people overall who have a genetic change that increases their risk of cancer know about it. Given the effective screening and preventive options that are available, this represents a huge, missed opportunity to prevent cancers or find them earlier.\n\nThe PROTECT-C study aims to evaluate the option of offering genetic testing to everyone who may want it. This is regardless of whether they or their families have had cancer. We will offer genetic testing to 5000 people. People may take part if they:\n\n* Are over the age of 18 years and\n* Are a woman, trans man, or non-binary person with female reproductive organs (ovaries, fallopian tubes, and\u002For a uterus) and\n* Have never had genetic testing for the cancer genes tested for in the study and\n* Do not have first-degree family members (e.g.: parent, sibling, child) or second-degree family members (e.g.: aunt, uncle, niece, nephew, grandchild, grandparent, half-sibling) with genetic changes in the cancer genes tested for in the study\n\nPROTECT-C is a completely digital study. The study team will give participants access to an app developed specifically for this study. They can download this app using a smartphone or tablet or access it on any internet browser using a computer or laptop. Before they can access the app, participants will need to complete a consent form. They will also be asked to fill in a short questionnaire about themselves and their health. The PROTECT-C app contains information to help participants decide if they would like to have genetic testing. If they decide to have genetic testing, they will complete a consent form for genetic testing on the app. The study team will send them a saliva based test kit in the post.\n\nThe study will look at how many people decide to have genetic testing and how many of them are found to have a genetic change. It will evaluate their experience with using the app and how this approach to genetic testing affects their quality-of-life, satisfaction, and mental well-being. This will give us a better understanding of how well the app works as a way of offering genetic testing to people. The study is interested to see how people found to be at increased risk decide to manage their risk. We will assess the uptake of screening and prevention options. Few participants will be invited to have 1:1 interviews by the study team. This will evaluate their experience of making a decision about genetic testing and taking part in the study. Taking part in these interviews is optional. The study will also assess if this way of offering genetic testing to people is affordable for the NHS.",[65,66,27],"Breast Cancer Risk","Ovarian Cancer Risk",[68,69,70,71,72],"Population based genetic testing","BRCA","Lynch Syndrome","breast cancer risk","ovarian cancer risk","2026-03-23",{"date":75,"type":41},"2026-03-27",{"date":77,"type":41},"2025-12-18",{"date":79,"type":21},"2040-12",{"name":81,"class":48},"Queen Mary University of London",1,{"id":84,"slug":85,"hasResults":11,"nctId":86,"briefTitle":87,"officialTitle":88,"acronym":89,"eligibilityCriteria":90,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":4,"enrollmentInfo":91,"targetDuration":93,"studyType":23,"phases":4,"briefSummary":94,"conditions":95,"keywords":98,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":103,"lastUpdatePostDateStruct":104,"startDateStruct":106,"completionDateStruct":108,"leadSponsor":110,"locationsCount":82},"100448963","ctnna1-familial-expansion-study-100448963","NCT05126290","CTNNA1 Familial Expansion Study","CTNNA1 Familial Expansion (CAFÉ) Study","CAFÉ","Inclusion Criteria:\n\n* 18 years of age and older\n* Participants must be carrier, or a first degree relative of a carrier, of a CTNNA1 loss-of-function variant defined as: a variant predicted to lead to protein truncation (nonsense and frameshift variants), a large deletion of one or more exons, or a consensus splice site variant predicted to disrupt splicing in CTNNA1. CTNNA1 loss-of-function variants do not need to be classified as pathogenic or likely pathogenic to be included.\n* Participants must be able to understand and read English\n* Participants must be able to provide informed verbal or written consent\n\nExclusion Criteria:\n\n* Less than 18 years of age\n* Individuals who do not carry a CTNNA1 loss-of-function variant and are not a first degree relative of a CTNNA1 loss-of-function variant carrier.\n* Individuals who cannot speak and read English\n* Major psychiatric illness or cognitive impairment that in the judgement of the study investigators or study staff would preclude study participation\n* Unable to comply with the study procedures as determined by the study investigators or study staff",{"count":92,"type":21},100,"1 Year","The goal of the CAFÉ Study is to determine the cancer risks associated with germline CTNNA1 loss-of-function variants.",[27,96,97],"Gastric Cancer","Breast Cancer",[99,100,101,102],"CTNNA1","Hereditary diffuse gastric cancer","Gastric cancer","Breast cancer","2026-02-03",{"date":105,"type":41},"2026-02-05",{"date":107,"type":41},"2021-03-16",{"date":109,"type":21},"2028-01-01",{"name":111,"class":48},"Abramson Cancer Center at Penn Medicine"]