Clinical trial · Observational
Liquid Biopsy Biomarkers for Endoscopic Surveillance in Lynch Syndrome
Minimally Invasive Biomarkers to Improve Endoscopic Cancer Surveillance in Individuals With Lynch Syndrome: a Prospective Institutional Study
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 26, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260926-000001
Summary
Brief summary (as posted)
Lynch syndrome (LS) is an autosomal dominant hereditary condition that markedly increases the risk of colorectal cancer (CRC) and other malignancies. Standard surveillance relies on colonoscopy every 1-2 years starting at age 20-25 years, an invasive and costly procedure that may become burdensome during lifelong follow-up and may miss interval cancers. This prospective, single-institution, observational study aims to identify minimally invasive plasma, stool, and urine biomarkers that could improve the detection of early colorectal lesions in individuals with LS and help refine surveillance protocols. Biomarker analyses include microsatellite instability (MSI) and MMR-related frameshift mutations in circulating tumor DNA, plasma and stool microRNA profiling, stool microbiome analysis, and exploratory urine cell-free DNA banking. Patients with genetically confirmed LS followed at Fondazione IRCCS Istituto Nazionale dei Tumori will be enrolled and followed for 24 months, undergoing surveillance colonoscopy at baseline, 12 months, and 24 months, with periodic venous blood sampling and stool, urine, and tissue collection according to protocol.
Conditions
Conditions (5)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Colorectal Cancer (CRC) | Malignant Colorectal Neoplasm | CURATED_BROADER | 0.80 |
| Colorectal Neoplasms | Colorectal Neoplasm | ONTOLOGY_EXACT | 0.98 |
| Hereditary Nonpolyposis Colorectal Cancer | — | UNRESOLVED | — |
| HNPCC | — | UNRESOLVED | — |
| Lynch Syndrome | — | UNRESOLVED | — |
Interventions
Interventions (1)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| Study procedures | Other | — | UNRESOLVED |
Design
Arms and outcomes
Arms (1)
- label
- Single Cohort
- description
- Patients with a confirmed pathogenic germline mismatch repair gene mutation (Lynch Syndrome) undergoing surveillance colonoscopy. There is no comparator or control arm; comparisons are made within the same cohort based on colonoscopy and histology findings.
- interventionNames
- Other: Study procedures
Primary outcomes (4)
- measure
- Plasma ctDNA Microsatellite Instability and colorectal lesions
- timeFrame
- Over the 24-month observation period (T0, T1 at 12 months, T2 at 24 months).
- description
- Association between microsatellite instability in plasma ctDNA and the presence of colorectal lesions in LS patients.
- measure
- miRNA Profiles and colorectal lesions
- timeFrame
- Over the 24-month observation period (T0, T1 at 12 months, T2 at 24 months).
- description
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 18 Years
Show eligibility criteria text
Inclusion Criteria: * Patients with Lynch syndrome, defined as carriers of a pathogenic germline mutation in one of the mismatch repair genes (MLH1, MSH2, MSH6, PMS2, or EPCAM), able to sign informed consent. * Age ≥18 years. * Patients with Lynch syndrome without a cancer diagnosis in the 6 months preceding study entry (T0).
References
Publications (0)
Data not yet available