Ignite Creation Date:
2025-12-25 @ 2:42 AM
Ignite Modification Date:
2025-12-31 @ 11:40 PM
Study NCT ID:
NCT06990633
Status:
NOT_YET_RECRUITING
Last Update Posted:
2025-05-25
First Post:
2025-05-17
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Lynch Syndrome in Colorectal Cancer Surgery
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D003110', 'term': 'Colonic Neoplasms'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D003123', 'term': 'Colorectal Neoplasms, Hereditary Nonpolyposis'}, {'id': 'D015179', 'term': 'Colorectal Neoplasms'}], 'ancestors': [{'id': 'D007414', 'term': 'Intestinal Neoplasms'}, {'id': 'D005770', 'term': 'Gastrointestinal Neoplasms'}, {'id': 'D004067', 'term': 'Digestive System Neoplasms'}, {'id': 'D009371', 'term': 'Neoplasms by Site'}, {'id': 'D009369', 'term': 'Neoplasms'}, {'id': 'D004066', 'term': 'Digestive System Diseases'}, {'id': 'D005767', 'term': 'Gastrointestinal Diseases'}, {'id': 'D003108', 'term': 'Colonic Diseases'}, {'id': 'D007410', 'term': 'Intestinal Diseases'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D009386', 'term': 'Neoplastic Syndromes, Hereditary'}, {'id': 'D049914', 'term': 'DNA Repair-Deficiency Disorders'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}, {'id': 'D012002', 'term': 'Rectal Diseases'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D003955', 'term': 'Diagnostic Tests, Routine'}], 'ancestors': [{'id': 'D019937', 'term': 'Diagnostic Techniques and Procedures'}, {'id': 'D003933', 'term': 'Diagnosis'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Types of Specimens:\n\nFormalin-fixed, paraffin-embedded (FFPE) tumor tissue obtained from surgical resection.\n\nPeripheral blood samples for germline DNA extraction.\n\nTime of Collection:\n\nTumor tissue will be collected intraoperatively.\n\nBlood samples will be collected postoperatively at the time of referral for genetic testing.\n\nPurpose of Analysis:\n\nTumor tissue will undergo IHC for MMR protein expression.\n\nBased on IHC results, additional analyses may include BRAF mutation and MLH1 promoter methylation.\n\nBlood-derived germline DNA will be analyzed via next-generation sequencing (NGS) to detect pathogenic variants associated with Lynch syndrome.\n\nStorage and Handling:\n\nFFPE blocks will be stored in hospital pathology units.\n\nBlood samples for DNA extraction will be processed and stored according to standard protocols in certified genetic laboratories.\n\nLocation:\n\nSpecimens will be collected from multiple surgical centers across Türkiye.'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'OTHER'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 180}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'NOT_YET_RECRUITING', 'startDateStruct': {'date': '2025-07-01', 'type': 'ESTIMATED'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-02', 'completionDateStruct': {'date': '2026-08-01', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-05-17', 'studyFirstSubmitDate': '2025-05-17', 'studyFirstSubmitQcDate': '2025-05-17', 'lastUpdatePostDateStruct': {'date': '2025-05-25', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2025-05-25', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2026-07-01', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Incidence of Lynch Syndrome Among Surgically Treated Colorectal Cancer Patients', 'timeFrame': 'Within 12 months following surgical resection and pathological assessment', 'description': 'The primary outcome is to determine the incidence of Lynch syndrome in patients who undergo surgery for colorectal cancer. The diagnosis will be based on initial immunohistochemical (IHC) analysis of MMR protein expression (MLH1, PMS2, MSH2, MSH6), followed by molecular and germline testing (BRAF mutation, MLH1 promoter methylation, and next-generation sequencing) when indicated.'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Lynch Syndrom, Colorectal Cancer'], 'conditions': ['Colo-rectal Cancer', 'Hereditary Diseases', 'Lynch Syndrome']}, 'descriptionModule': {'briefSummary': 'Study Design (Material and Methods)\n\nThis is a multicentre, prospective cohort and audit study conducted in Türkiye. The study aims to evaluate the incidence of Lynch syndrome among patients who undergo surgery for colorectal cancer in participating general surgery departments.\n\nOver a 12-month period, patients undergoing surgery for histologically confirmed colorectal cancer at multiple tertiary hospitals across Türkiye will be enrolled. Postoperative pathological assessments will include immunohistochemical (IHC) analysis for mismatch repair (MMR) protein expression (MLH1, PMS2, MSH2, and MSH6).\n\nIn cases showing loss of MLH1 and PMS2 expression, BRAF mutation testing will be performed. If BRAF mutation is detected, MLH1 promoter methylation analysis will follow. A positive result in both tests will suggest a sporadic etiology, whereas the absence of both findings will lead to referral for germline genetic testing using next-generation sequencing (NGS) to investigate Lynch syndrome.\n\nFor patients with isolated MSH2 and/or MSH6 loss, direct referral to genetic testing will be carried out without BRAF or methylation testing.\n\nPatients with intact MMR expression will be recorded as the MMR-proficient control group. Comparative analysis will be conducted between dMMR and MMR-proficient patients, including demographic characteristics (age, sex, family history of cancer), tumor staging, anatomical location, and presence of metastases.\n\nThe primary outcome is to determine the incidence of Lynch syndrome among surgically treated colorectal cancer patients in Türkiye and to identify clinical and pathological correlations.', 'detailedDescription': 'Study Design (Material and Methods)\n\nThis is a multicentre, prospective cohort and audit study conducted in Türkiye. The study aims to evaluate the incidence of Lynch syndrome among patients who undergo surgery for colorectal cancer in participating general surgery departments.\n\nOver a 12-month period, patients undergoing surgery for histologically confirmed colorectal cancer at multiple tertiary hospitals across Türkiye will be enrolled. Postoperative pathological assessments will include immunohistochemical (IHC) analysis for mismatch repair (MMR) protein expression (MLH1, PMS2, MSH2, and MSH6).\n\nIn cases showing loss of MLH1 and PMS2 expression, BRAF mutation testing will be performed. If BRAF mutation is detected, MLH1 promoter methylation analysis will follow. A positive result in both tests will suggest a sporadic etiology, whereas the absence of both findings will lead to referral for germline genetic testing using next-generation sequencing (NGS) to investigate Lynch syndrome.\n\nFor patients with isolated MSH2 and/or MSH6 loss, direct referral to genetic testing will be carried out without BRAF or methylation testing.\n\nPatients with intact MMR expression will be recorded as the MMR-proficient control group. Comparative analysis will be conducted between dMMR and MMR-proficient patients, including demographic characteristics (age, sex, family history of cancer), tumor staging, anatomical location, and presence of metastases.\n\nThe primary outcome is to determine the incidence of Lynch syndrome among surgically treated colorectal cancer patients in Türkiye and to identify clinical and pathological correlations.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'minimumAge': '18 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'The study population consists of adult patients (≥18 years) who undergo surgical resection for histologically confirmed colorectal adenocarcinoma at tertiary hospitals in Türkiye. Participants will include both elective and emergency surgical cases. All patients will have their tumor samples evaluated for MMR protein expression by immunohistochemistry. Patients with abnormal MMR expression will undergo further genetic testing. The population will represent a real-world surgical cohort, including both hereditary and sporadic colorectal cancer cases.', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\nAge 18 years or older\n\nHistologically confirmed diagnosis of colorectal adenocarcinoma\n\nUndergoing surgical resection at one of the participating general surgery departments\n\nAvailability of formalin-fixed, paraffin-embedded (FFPE) tumor tissue for MMR analysis\n\nConsent to participate in the study and undergo genetic testing if indicated\n\nExclusion Criteria:\n\nAge below 18 years\n\nDiagnosis other than colorectal adenocarcinoma\n\nIncomplete or unavailable postoperative pathology results\n\nInadequate tissue samples for IHC analysis\n\nPatients who decline participation in the study at any point\n\nPatients who do not attend or refuse referral to genetic counseling after pathology results'}, 'identificationModule': {'nctId': 'NCT06990633', 'acronym': 'LYNX', 'briefTitle': 'Lynch Syndrome in Colorectal Cancer Surgery', 'organization': {'class': 'OTHER', 'fullName': 'Izmir Ataturk Training and Research Hospital'}, 'officialTitle': 'LYNX STUDY: Lynch Syndrome in Colorectal Cancer Surgery - A Multicentre, Prospective Cohort Study', 'orgStudyIdInfo': {'id': 'Hilal'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'dmmr', 'description': 'dmmr', 'interventionNames': ['Diagnostic Test: diagnostic test']}, {'label': 'mmr expression normal', 'description': 'mmr expression normal'}], 'interventions': [{'name': 'diagnostic test', 'type': 'DIAGNOSTIC_TEST', 'description': 'Group 1: MMR-Proficient Group Label: MMR-Proficient\n\nDescription: Patients with normal expression of MMR proteins on IHC analysis. No indication for further genetic testing.\n\nType: Observational Group\n\nGroup 2: dMMR Group Label: dMMR\n\nDescription: Patients with loss of MMR protein expression (MLH1, PMS2, MSH2, or MSH6) on IHC. These patients will undergo further molecular or genetic analysis to evaluate for Lynch syndrome.\n\nType: Observational Group', 'armGroupLabels': ['dmmr']}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Izmir Ataturk Training and Research Hospital', 'class': 'OTHER'}, 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'md ftbs phd-c', 'investigatorFullName': 'SAADET KOCA', 'investigatorAffiliation': 'Izmir Ataturk Training and Research Hospital'}}}}