[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100570529":3},{"organization":4,"armGroups":7,"interventions":66,"overallOfficials":72,"centralContacts":77,"locations":85,"responsibleParty":168,"collaborators":10,"id":170,"slug":171,"hasResults":172,"nctId":173,"briefTitle":174,"officialTitle":175,"acronym":176,"eligibilityCriteria":177,"healthyVolunteers":172,"sex":178,"minAge":179,"maxAge":10,"enrollmentInfo":180,"targetDuration":10,"studyType":183,"phases":10,"briefSummary":184,"conditions":185,"keywords":208,"overallStatus":88,"whyStopped":10,"lastUpdateSubmitDate":228,"lastUpdatePostDateStruct":229,"startDateStruct":232,"completionDateStruct":234,"leadSponsor":236,"locationsCount":237},{"fullName":5,"class":6},"San Raffaele University","OTHER",[8,14,18,22,26,30,34,38,42,46,50,54,58,62],{"label":9,"type":10,"description":11,"interventionNames":12},"Lynch syndrome (MLH1), without colorectal cancer and without advanced adenomas",null,"A cohort of individuals with a germline pathogenic variant in the MLH1 gene, that confers a diagnosis of Lynch syndrome, who are found to be cancer-free and adenoma-free at the time of colonoscopy evaluation",[13],"Diagnostic Test: LYNX EYE (Lynch syndrome X-Talk of Enteral mucosa with Immune System)",{"label":15,"type":10,"description":16,"interventionNames":17},"Lynch syndrome (MLH1), with colorectal cancer or advanced adenomas","A cohort of individuals with a germline pathogenic variant in the MLH1 gene, that confers a diagnosis of Lynch syndrome, who are found to have colorectal cancer or an adenoma at the time of colonoscopy evaluation",[13],{"label":19,"type":10,"description":20,"interventionNames":21},"Lynch syndrome (MSH2), without colorectal cancer and without advanced adenomas","A cohort of individuals with a germline pathogenic variant in the MSH2 gene, that confers a diagnosis of Lynch syndrome, who are found to be cancer-free and adenoma-free at the time of colonoscopy evaluation",[13],{"label":23,"type":10,"description":24,"interventionNames":25},"Lynch syndrome (MSH2), with colorectal cancer or advanced adenomas","A cohort of individuals with a germline pathogenic variant in the MSH2 gene, that confers a diagnosis of Lynch syndrome, who are found to have colorectal cancer or an adenoma at the time of colonoscopy evaluation",[13],{"label":27,"type":10,"description":28,"interventionNames":29},"Lynch syndrome (MSH6, without colorectal cancer and without advanced adenomas","A cohort of individuals with a germline pathogenic variant in the MSH6 gene, that confers a diagnosis of Lynch syndrome, who are found to be cancer-free and adenoma-free at the time of colonoscopy evaluation",[13],{"label":31,"type":10,"description":32,"interventionNames":33},"Lynch syndrome (MSH6), with colorectal cancer or advanced adenomas","A cohort of individuals with a germline pathogenic variant in the MSH6 gene, that confers a diagnosis of Lynch syndrome, who are found to have colorectal cancer or an adenoma at the time of colonoscopy evaluation",[13],{"label":35,"type":10,"description":36,"interventionNames":37},"Lynch syndrome (PMS2), without colorectal cancer and without advanced adenomas","A cohort of individuals with a germline pathogenic variant in the PMS2 gene, that confers a diagnosis of Lynch syndrome, who are found to be cancer-free and adenoma-free at the time of colonoscopy evaluation",[13],{"label":39,"type":10,"description":40,"interventionNames":41},"Lynch syndrome (PMS2), with colorectal cancer or advanced adenomas","A cohort of individuals with a germline pathogenic variant in the PMS2 gene, that confers a diagnosis of Lynch syndrome, who are found to have colorectal cancer or an adenoma at the time of colonoscopy evaluation",[13],{"label":43,"type":10,"description":44,"interventionNames":45},"Lynch syndrome (MSH2, exon 8 deletion), without colorectal cancer and without advanced adenomas","A cohort of individuals with a germline pathogenic exon 8 deletion in the MSH2 gene, that confers a diagnosis of Lynch syndrome, who are found to be cancer-free and adenoma-free at the time of colonoscopy evaluation",[13],{"label":47,"type":10,"description":48,"interventionNames":49},"Lynch syndrome (MSH2, exon 8 deletion), with colorectal cancer or advanced adenomas","A cohort of individuals with a germline pathogenic exon 8 deletion in the MSH2 gene, that confers a diagnosis of Lynch syndrome, who are found to have colorectal cancer or an adenoma at the time of colonoscopy evaluation",[13],{"label":51,"type":10,"description":52,"interventionNames":53},"Non-Lynch syndrome, with colorectal cancer","A cohort of individuals without a germline pathogenic variant in any of the mismatch repair genes (MLH1, MSH2, MSH6, PMS2), who are found to have colorectal cancer at the time of colonoscopy evaluation",[13],{"label":55,"type":10,"description":56,"interventionNames":57},"Non-Lynch syndrome, with high-risk adenomas","A cohort of individuals without a germline pathogenic variant in any of the mismatch repair genes (MLH1, MSH2, MSH6, PMS2), who are found to have high-risk adenomas at the time of colonoscopy evaluation",[13],{"label":59,"type":10,"description":60,"interventionNames":61},"Non-Lynch syndrome, with low-risk adenomas","A cohort of individuals without a germline pathogenic variant in any of the mismatch repair genes (MLH1, MSH2, MSH6, PMS2), who are found to have low-risk adenomas at the time of colonoscopy evaluation",[13],{"label":63,"type":10,"description":64,"interventionNames":65},"Non-Lynch syndrome, without colorectal cancer and without colorectal adenomas","A cohort of individuals without a germline pathogenic variant in any of the mismatch repair genes (MLH1, MSH2, MSH6, PMS2), who are found to be cancer-free and adenoma-free at the time of colonoscopy evaluation",[13],[67],{"type":68,"name":69,"description":70,"armGroupLabels":71,"otherNames":10},"DIAGNOSTIC_TEST","LYNX EYE (Lynch syndrome X-Talk of Enteral mucosa with Immune System)","A combination of blood-based, mucosal-based, and hair-based analyses that evaluate the presence and the expression of:\n\n* a set of microRNAs (blood)\n* antibodies anti-frame shift peptides (blood)\n* mucosal-resident bacteria (healthy mucosa and cancer)\n* environmental exposure to potential carcinogens (hair matrix)",[15,9,23,19,47,43,31,27,39,35,51,55,59,63],[73],{"name":74,"affiliation":75,"role":76},"Giulia Martina Cavestro, MD, PhD","IRCCS San Raffaele Scientific Institute","PRINCIPAL_INVESTIGATOR",[78,82],{"name":74,"role":79,"phone":80,"phoneExt":10,"email":81},"CONTACT","0226436303","cavestro.giuliamartina@hsr.it",{"name":83,"role":79,"phone":80,"phoneExt":10,"email":84},"Alessandro Mannucci, MD","mannucci.alessandro@hsr.it",[86,104,132,143,155],{"facility":87,"status":88,"city":89,"state":90,"zip":91,"country":92,"countryCode":93,"cosmosGeoPoint":94,"geoPoint":99,"contacts":100},"Beckman Research Institute at City of Hope","RECRUITING","Monrovia","California","91016","United States","US",{"type":95,"coordinates":96},"Point",[97,98],-117.99895,34.14806,{"lat":98,"lon":97},[101],{"name":102,"role":79,"phone":10,"phoneExt":10,"email":103},"Ajay Goel, PhD","AJGOEL@COH.ORG",{"facility":105,"status":88,"city":106,"state":107,"zip":108,"country":109,"countryCode":110,"cosmosGeoPoint":111,"geoPoint":115,"contacts":116},"Gastronterology and Gastrointestinal Endoscopy Unit, IRCCS San Raffaele Hospital","Milan","Lombardy","20132","Italy","IT",{"type":95,"coordinates":112},[113,114],9.18951,45.46427,{"lat":114,"lon":113},[117,118,119,121,123,126,128,130],{"name":74,"role":79,"phone":10,"phoneExt":10,"email":81},{"name":83,"role":76,"phone":10,"phoneExt":10,"email":10},{"name":120,"role":76,"phone":10,"phoneExt":10,"email":10},"Marta Puzzono, MD, PhD",{"name":122,"role":76,"phone":10,"phoneExt":10,"email":10},"Clelia Di Serio, PhD",{"name":124,"role":125,"phone":10,"phoneExt":10,"email":10},"Chiara Brombin, PhD","SUB_INVESTIGATOR",{"name":127,"role":125,"phone":10,"phoneExt":10,"email":10},"Paola MV Rancoita, PhD",{"name":129,"role":76,"phone":10,"phoneExt":10,"email":10},"Claudio Doglioni, MD, PhD",{"name":131,"role":125,"phone":10,"phoneExt":10,"email":10},"Luca Albarello, MD",{"facility":133,"status":88,"city":106,"state":134,"zip":10,"country":109,"countryCode":110,"cosmosGeoPoint":135,"geoPoint":137,"contacts":138},"Dipartimento di Chirurgia Oncologica e Dipartimento di Oncologia Sperimentale Istituto Nazionale Tumori","MI",{"type":95,"coordinates":136},[113,114],{"lat":114,"lon":113},[139,141],{"name":140,"role":79,"phone":10,"phoneExt":10,"email":10},"Marco Vitellaro, MD",{"name":142,"role":79,"phone":10,"phoneExt":10,"email":10},"Elena Daveri",{"facility":144,"status":88,"city":145,"state":146,"zip":10,"country":109,"countryCode":110,"cosmosGeoPoint":147,"geoPoint":151,"contacts":152},"Dipartimento di controllo qualità e rischio chimico biologico, AOOR Villa Sofia Cervello","Palermo","PM",{"type":95,"coordinates":148},[149,150],13.3636,38.1166,{"lat":150,"lon":149},[153],{"name":154,"role":79,"phone":10,"phoneExt":10,"email":10},"Francesca Di Gaudio, MD",{"facility":156,"status":88,"city":157,"state":10,"zip":10,"country":109,"countryCode":110,"cosmosGeoPoint":158,"geoPoint":162,"contacts":163},"Chirurgia Generale, Azienda Ospedaliero Universitaria di Cagliari","Cagliari",{"type":95,"coordinates":159},[160,161],9.11917,39.23054,{"lat":161,"lon":160},[164,166],{"name":165,"role":79,"phone":10,"phoneExt":10,"email":10},"Angelo Restivo, MD",{"name":167,"role":79,"phone":10,"phoneExt":10,"email":10},"Giulia Anna Maria Luigia Costanzo",{"type":169,"investigatorFullName":10,"investigatorTitle":10,"investigatorAffiliation":10,"oldNameTitle":10,"oldOrganization":10},"SPONSOR","100570529","lynch-syndrome-x-talk-of-enteral-mucosa-with-immune-system-100570529",false,"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","ALL","18 Years",{"count":181,"type":182},300,"ESTIMATED","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.",[186,187,188,189,190,191,192,193,194,195,196,197,198,199,200,201,202,203,204,205,206,207],"Lynch Syndrome","Lynch Syndrome I","Lynch Syndrome II","Lynch Syndrome I (Site-specific Colonic Cancer)","HNPCC","HNPCC Gene Mutation","Hereditary Cancer Syndrome","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",[209,210,211,212,213,214,215,216,217,218,219,220,221,222,223,224,225,226,227],"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":230,"type":231},"2026-04-24","ACTUAL",{"date":233,"type":231},"2023-06-01",{"date":235,"type":182},"2034-06-01",{"name":5,"class":6},5]