[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"chek2-gene-mutation\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:chek2-gene-mutation":31},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,4,0,[8,56,91,139],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":22,"briefSummary":24,"conditions":25,"keywords":33,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":44,"lastUpdatePostDateStruct":45,"startDateStruct":48,"completionDateStruct":50,"leadSponsor":52,"locationsCount":55},"100631386","phase-2-randomized-double-blind-phase-ii-trial-of-baby-exemestane-versus-baby-tamoxifen-in-post-menopausal-women-at-high-risk-for-breast-cancer-100631386",false,"NCT07499999","Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer","Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer (BabyTEARS)","BabyTEARS","Inclusion Criteria:\n\n* Postmenopausal state is defined⁸ as no menses for 12 months without an alternative medical cause. A high follicle stimulating hormone (FSH) level in the postmenopausal range may be used to confirm a post-menopausal state in women not using hormonal contraception or hormonal replacement therapy.\n* Any of the following criteria must be met:\n\n  * Recent (within 12 months from date of consent form signature) histologic diagnosis of ER+ve (\\>5%) DCIS (patients with DCIS should have undergone breast-conserving therapy i.e. lumpectomy to remove the tumor with negative surgical margins followed by radiotherapy (see footnote 1 below)) diagnosis within 3 years of HRL (ADH, LCIS, ALH), or;\n  * At least 3% breast cancer risk at 5 years (or 5% risk at 10yrs) per one of the following risk models: the Breast Cancer Surveillance Consortium risk calculator V3 or Tyrer-Cuzick model V8 or;\n  * Known carriers of a germline pathogenic\u002Flikely pathogenetic variant in the following moderate penetrance genes (CHEK2 or ATM), or women with chest wall irradiation before age of 30 years\n* Eastern Cooperative Oncology Group - Performance Status (ECOG-PS) 0-1\n* Able to swallow oral medications\n* Participants with a prior or concurrent malignancy whose natural history or treatment does not have the potential to interfere with the safety or efficacy assessment of the investigational regimen are eligible for this trial. Specifically, all cancers diagnosed since 3 years or longer except for breast and endometrial are eligible.\n* Ability to understand and the willingness to sign a written informed consent document\n* Mammography performed up to 6 months before the trial consent form signature\n* DEXA performed up to 12 months before the trial consent form signature\n* Life expectancy ≥ 10 years\n* Normal liver function tests and blood cell count\n* Negative gynecological examination performed up to 6 months before the trial consent form signature.\n\nᶥ While DCIS and ADH are routinely excised, and treatment of DCIS often includes radiotherapy, lobular neoplasia (ALH and classic LCIS) are not routinely excised in most US centers unless radiologic-pathologic findings are discordant given the very low risk of an associated cancer.11,12 Participants with DCIS should have undergone breast-conserving therapy i.e. lumpectomy to remove the tumor with negative surgical margins followed by radiotherapy. All DCIS will require excision to clear margins per the SSO\u002FASCO\u002FASTRO margin guidelines for DCIS.88 In selected cases, the decision to omit RT might be taken according to low risk clinical-pathological factors (e.g., age\\>70, low grade, size \\\u003C 1 cm, and genomic assays if available) as well as patient preference after full discussion of the risks and benefits.\n\nExclusion Criteria:\n\n* Pre\u002Fperimenopausal women: exemestane is only effective in post-menopausal women\n* History of DVT or PE: tamoxifen can increase tendency to blood clot\n* Endometrial cancer: full-dose tamoxifen is associated with increased risk of endometrial cancers\n* Macular disorders: tamoxifen is associated with retinal damage\n* Inability to comply with study procedures: standard\n* Prior use of antiestrogens within 12 months from the date of the trial consent form signature: there can be long duration effects from antiestrogens that could influence trial drug effects\n* Use of hormone replacement therapy (HRT) within 3 months from the date of the trial consent form signature: similarly, wish to avoid any long lasting effect before alternate effect from study drugs\n* Severe osteoporosis (T score ≤ 2.5 at either spine or hip), or recent vertebral fracture (within 6 months) not treated with zoledronic acid or denosumab: Exemestane is an aromatase inhibitor which can worsen bone loss (osteoporosis)\n* Current use of terbinafine, quinidine, cinacalcet, rifampicin, phenytoin, carbamazepine, phenobarbital, St. John's wort, warfarin, erythromycin, cyclosporin, nifedipine and any concomitant coumarin-type anti-coagulant therapy: these drugs compete for the Cytochrome P450 metabolic pathways of tamoxifen and exemestane\n* Moderate or severe renal impairment: Exemestane is eliminated equally by liver and renal metabolism\n* Known hypersensitivity to study drugs: standard\n\nScreening Eligibility Criteria\n\nTo register a participant to the screening phase, the following documents should be provided by the participating site:\n\nSigned participant consent form\n\n* Postmenopausal status, and any of the following:\n\n  * Histological report of ER-positive DCIS within 12 months, or HRL of the breast within 3 years from date of consent form signature, or;\n  * Report of risk assessment ≥3% in 5 years or 5% in 10 years of breast cancer according to the selected risk model(s) different criteria within 6 months from screening, or;\n  * Documentation of women carriers of a germline pathogenic\u002Flikely pathogenetic variant in a moderate penetrance gene (CHEK2 or ATM), or;\n  * Documented history of chest wall radiotherapy before age 30.\n* Inclusion of Women and Minorities\n\nOnly women will be recruited in the study given that breast cancer is much more frequent in women than men and because exemestane is contraindicated in men because of risk of uncontrolled gonadal stimulation. Women of all races and ethnic groups are eligible for this trial. At participating sites, efforts will be made to enroll women from diverse ethnic and socio-economic backgrounds, including recruitment of non-white women in a selected New York city area.\n\nNIH policy requires that women and members of minority groups and their subpopulations be included in all NIH-supported biomedical and behavioral research projects involving NIH-defined clinical research unless a clear and compelling rationale and justification establishes to the satisfaction of the funding Institute \\& Center (IC) Director that inclusion is inappropriate with respect to the health of the subjects or the purpose of the research. Exclusion under other circumstances designated by the Director, NIH, upon the recommendation of an IC Director based on a compelling rationale and justification. Cost is not an acceptable reason for exclusion except when the study would duplicate data from other sources. Women of childbearing potential should not be routinely excluded from participation in clinical research.","FEMALE",{"count":19,"type":20},140,"ESTIMATED","INTERVENTIONAL",[23],"PHASE2","The goal of this research study is to evaluate the efficacy and safety of low-dose exemestane versus low-dose tamoxifen in post-menopausal women at high risk for breast cancer.\n\nThe names of the study drugs involved in this study are:\n\n* Exemestane (a type of steroidal aromatase inhibitor)\n* Tamoxifen (a type of selective estrogen receptor modulator)",[26,27,28,29,30,31,32],"Breast Cancer","Ductal Carcinoma","Estrogen-receptor-positive Breast Cancer","Atypical Lobular Hyperplasia","BRCA2 Mutation","CHEK2 Gene Mutation","Ataxia Telangiectasia Mutated Gene Mutation",[26,34,35,36,37,38,39,29,40,41,42],"High Risk Breast Cancer","Cancer Prevention","Ductual Carcinoma in Site","Estrogen Receptor Positive","High Risk Lesions","HRL","BRCA2","CHEK2","ATM","NOT_YET_RECRUITING","2026-03-24",{"date":46,"type":47},"2026-03-30","ACTUAL",{"date":49,"type":20},"2026-09-09",{"date":51,"type":20},"2028-08-31",{"name":53,"class":54},"Dana-Farber Cancer Institute","OTHER",2,{"id":57,"slug":58,"hasResults":11,"nctId":59,"briefTitle":60,"officialTitle":61,"acronym":62,"eligibilityCriteria":63,"healthyVolunteers":11,"sex":64,"minAge":65,"maxAge":4,"enrollmentInfo":66,"targetDuration":4,"studyType":68,"phases":4,"briefSummary":69,"conditions":70,"keywords":77,"overallStatus":80,"whyStopped":4,"lastUpdateSubmitDate":81,"lastUpdatePostDateStruct":82,"startDateStruct":84,"completionDateStruct":86,"leadSponsor":88,"locationsCount":90},"100446733","the-genpet-study---an-imaging-study-of-fch-pet-ct-in-men-with-prostate-cancer-and-a-dna-repair-gene-mutation-100446733","NCT05097274","The GENPET Study - An Imaging Study of FCH-PET-CT in Men With Prostate Cancer and a DNA Repair Gene Mutation.","An Imaging Study of FCH-PET-CT in Men With Prostate Cancer and a DNA Repair Gene Mutation (GENPET)","GENPET","Inclusion Criteria:\n\n* Confirmed pathogenic germline mutation in any of the following genes BRCA1, BRCA2, MSH2, MSH6, MLH1, PMS2, CHEK2, PALB2 or ATM.\n* Over the age of 18\n* Diagnosed with prostate cancer and at a time when staging imaging is clinically indicated; either:\n\n  * At a new diagnosis\n  * Biochemically progressing patients who were treated radically with surgery or radiotherapy (more than 6 months ago) and are currently not receiving hormonal treatment or chemotherapy\n  * Patients on active surveillance with a PSA doubling time of 6 months or less\n\nExclusion Criteria:\n\n* Diagnosis of other malignancy (excluding basal cell cancer\u002Fsquamous cell cancer of the skin) within five years of diagnosis\n* Known metastatic prostate cancer, both local and distant\n* Patients who have received any oncological treatment within the last six months\n* Patients on any investigational drug treatment\n* Patients on steroids\n* Known history of inflammatory\u002Finfective diseases (e.g. sarcoidosis, tuberculosis, inflammatory bowel disease)\n* Contraindications to having an MRI using the standard MRI checklist (e.g. pacemakers, aneurysm clips, claustrophobia)","MALE","18 Years",{"count":67,"type":20},50,"OBSERVATIONAL","The aim of the study is to determine if PET-CT imaging (using contrast recommended in clinical guidelines) is superior to combined bone scan and MRI\u002FCT of the abdomen \\& pelvis in detecting the increased incidence of metastasis (nodal\u002Fdistant outside the pelvis) in men with prostatic carcinoma with mutations in any of the following germline DNA repair genes BRCA1, BRCA2, MSH2, MSH6, MLH1, PMS2, CHEK2, PALB2, ATM.",[71,72,73,74,75,31,76],"Prostate Cancer","BRCA Mutation","Mismatch Repair Gene Mutation","ATM Gene Mutation","HOXB13 Germline Mutation","PALB2 Gene Mutation",[78,79],"FCH-PET-CT","PSMA-PET-CT","RECRUITING","2025-12-08",{"date":83,"type":47},"2025-12-16",{"date":85,"type":47},"2015-10-15",{"date":87,"type":20},"2032-12-31",{"name":89,"class":54},"Institute of Cancer Research, United Kingdom",1,{"id":92,"slug":93,"hasResults":11,"nctId":94,"briefTitle":95,"officialTitle":96,"acronym":4,"eligibilityCriteria":97,"healthyVolunteers":98,"sex":99,"minAge":100,"maxAge":4,"enrollmentInfo":101,"targetDuration":4,"studyType":21,"phases":103,"briefSummary":105,"conditions":106,"keywords":125,"overallStatus":80,"whyStopped":4,"lastUpdateSubmitDate":130,"lastUpdatePostDateStruct":131,"startDateStruct":133,"completionDateStruct":135,"leadSponsor":137,"locationsCount":138},"100471529","an-intervention-to-increase-genetic-testing-in-families-who-may-share-a-gene-mutation-related-to-cancer-risk-and-an-intervention-to-help-patients-and-their-primary-care-providers-stay-up-to-date-about-uncertain-genetic-test-results-100471529","NCT05420064","An Intervention to Increase Genetic Testing in Families Who May Share a Gene Mutation Related to Cancer Risk and An Intervention to Help Patients and Their Primary Care Providers Stay Up-to-date About Uncertain Genetic Test Results","Digital Technology to Enhance Access to and Effectiveness of Cancer Genetic Counseling: Effective Familial OutReach Via Tele-genetics (EfFORT) Trial & Supporting Test Result Interpretation and Variant Education (STRIVE) Trial","Inclusion Criteria:\n\nEfFORT Trial Probands\n\n* Current MSK patient\n* Received post-test genetic counseling from MSK Clinical Genetics Service within the last 3 months (or within the last year for the de-identified non-randomized control probands)\n* 25 years of age or older\n* Self-reported \"very well\" comprehension of written and verbal English language or Spanish language\n* Has at least one ARR who meets criteria for study enrollment (see below)\n* First in the family to test positive for PV at MSK in any of the following cancer susceptibility genes, or an ARR of an MSK proband who converted to the proband role:\n\nAPC I1307K, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDKN2A (P16), CHEK2, EPCAM, GREM1, MLH1, MSH2, MSH6, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, BAP1, DICER1, FH, FLCN, HOXB13, KIT, MAX, MEN1, MET, MITF, PTCH1, RAD51B, RET, SDHB, SDHC, SDHD, STK11, SUFU, TMEM127, TSC1, TSC2, VHL\n\nPrincipal Investigator discretion will be used to determine whether specific variants within the above genes meet a clinical actionability threshold to warrant familial genetic testing.\n\nEfFORT Trial At-Risk Relatives (ARRs):\n\n* Biological first-, second-, or third- degree relative of enrolled MSK proband\n* 25 years of age or older\n* Resides within the United States\n* Self-reported medical insurance which can be in or out of network with MSK\n* Self-reported \"very well\" comprehension of written and verbal English language\n\nSTRIVE Trial VUS Patients\n\n* Current MSK patient\n* Received post-test genetic counseling from MSK Clinical Genetics Service within the last 3 months\n* 25 years of age or older\n* Self-reported \"very well\" comprehension of written and verbal English language or Spanish language\n* Has a VUS identified in any of the following cancer predisposition genes:\n\nAPC, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A (P16), CHEK2, CTNNA1, DICER1, ELOC, EPCAM, FH, FLCN, GREM1, HOXB13, KEAP1, MAX, MBD4, MEN1, MET, MITF, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NF1, NF2, NTHL1, PALB2, PMS2, POLD1, POLE, POT1, PTEN, RAD51B, RAD51C, RAD51D, RB1, RET, RNF43, RPS20, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, STK11, TERT, TMEM127, TP53, TSC1, TSC2, VHL\n\nSTRIVE Trial PCP Providers:\n\n* Designated healthcare provider for an enrolled VUS patient\n* Resides within the United States\n\nExclusion Criteria:\n\nEfFORT Trial Probands\n\n* Is unwilling or unable to provide informed consent\n* Is unwilling or unable to create a MyMSK patient portal account (see section 3.0 on MyMSK patient usage at MSK and CGS)\n* Does not have an email address\n* Has enrolled in the STRIVE trial\n\nEfFORT Trial At-Risk Relatives (ARRs):\n\n* Is unwilling or unable to provide informed consent\n* Is unwilling or unable to create a MyMSK patient portal account\n* Has previously undergone genetic testing for the familial PV\n* Does not have an email address\n* Has opted out of study contact\n\nSTRIVE Trial VUS Patients\n\n* Is unwilling or unable to provide informed consent\n* Is unwilling or unable to create a MyMSK patient portal account (see section 3.0 on MyMSK patient usage at MSK and CGS)\n* Does not have an email address\n* Has enrolled in the EfFORT trial\n\nSTRIVE Trial PCP Providers\n\n* Contact information not available",true,"ALL","25 Years",{"count":102,"type":20},1000,[104],"NA","The purpose of this study is to examine the impact of new cancer genetic counseling models that aim to increase patient engagement with the genetics team. To do this, the study consists of two trials to evaluate two related interventions. The first trial is the EfFORT Trial, which evaluates a cascade genetic testing intervention. Cascade testing is the process of offering genetic testing to people who are at risk of having inherited a possibly harmful gene change that has been found in their family. The study will look at how often genetic testing occurs when healthcare providers have permission to reach out to family members to recommend genetic testing and to help those who are interested get tested. The study will look at whether this cascade testing intervention is practical and effective. The study would like to see how this approach of healthcare providers reaching out directly to family members compares with the usual approach of patients telling their family members about the recommendation to get genetic testing. The second trial is the STRIVE Trial, which evaluates an intervention designed to help patients who receive an uncertain result from genetic testing (also called a \"variant of uncertain significance\") stay connected with their genetics care team, and to help patients and their primary care providers stay up-to-date about the meaning of uncertain genetic test results. The study will look at whether an intervention that consists of a study online portal for patients with uncertain genetic test results and their primary care providers will help them to stay up-to-date on the meaning of uncertain genetic test results. The study would like to see how this intervention compares to the usual approach of encouraging patients to re-contact their genetics care team on their own about a year after getting genetic testing.\"",[107,108,109,30,110,111,74,112,113,114,115,116,31,117,76,118,119,120,121,122,123,124],"BRCA1 Mutation","POLD1 Gene Mutation","CDKN2A Mutation","POLE Gene Mutation","APC Gene Mutation","MLH1 Gene Mutation","BARD1 Gene Mutation","MSH2 Gene Mutation","BRIP1 Gene Mutation","MSH6 Gene Mutation","PMS2 Gene Mutation","EPCAM Gene Mutation","RAD51C Gene Mutation","BMPR1A Gene Mutation","RAD51D Gene Mutation","SMAD4","PTEN Gene Mutation","GREM1",[126,127,128,129],"EfFORT","Memorial Sloan Kettering Cancer Center","Genetic Testing","22-023","2025-11-10",{"date":132,"type":47},"2025-11-12",{"date":134,"type":47},"2022-12-01",{"date":136,"type":20},"2026-11-30",{"name":127,"class":54},8,{"id":140,"slug":141,"hasResults":11,"nctId":142,"briefTitle":143,"officialTitle":144,"acronym":145,"eligibilityCriteria":146,"healthyVolunteers":98,"sex":99,"minAge":65,"maxAge":4,"enrollmentInfo":147,"targetDuration":4,"studyType":21,"phases":149,"briefSummary":150,"conditions":151,"keywords":4,"overallStatus":80,"whyStopped":4,"lastUpdateSubmitDate":160,"lastUpdatePostDateStruct":161,"startDateStruct":163,"completionDateStruct":165,"leadSponsor":167,"locationsCount":90},"100570811","video-capsule-examination-in-patients-with-lynch-syndrome-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",{"count":148,"type":20},25,[104],"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.",[152,153,154,155,156,157,158,31,120,159],"Lynch Syndrome","Li Fraumeni Syndrome","PTEN Hamartoma Syndrome","FAP","MUTYH Biallelic Mutation","STK11 Mutation","CDH1 Gene Mutation","SMAD4 Gene Mutation","2024-12-03",{"date":162,"type":47},"2024-12-05",{"date":164,"type":47},"2024-03-04",{"date":166,"type":20},"2025-10-31",{"name":168,"class":54},"Royal Marsden NHS Foundation Trust"]