Clinical trial · Observational
Inherited Cancer Early Diagnosis (ICED) Study
Inherited Cancer Early Diagnosis (ICED) Study Liquid Biopsy Screening for Early Diagnosis of Cancers in Patients With Cancer-predisposition Syndromes
NCT06163365CI-TRIAL-00072101ICEDunknownClinicalTrials.gov clinicaltrialsProvenance
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
ICED is a prospective sample collection research study, aiming to develop or validate a blood/urine biomarker which could potentially detect cancers early in individuals at high risk of developing cancers, due to certain germline alterations.
Conditions
Conditions (8)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Cowden Syndrome | — | UNRESOLVED | — |
| Familial Adenomatous Polyposis | — | UNRESOLVED | — |
| Hereditary Diffuse Gastric Cancer | Hereditary Gastric Diffuse Adenocarcinoma | ALIAS | 0.90 |
| Li Fraumeni Syndrome | — | UNRESOLVED | — |
| Lynch Syndrome | — | UNRESOLVED | — |
| MutYH-associated Polyposis | — | UNRESOLVED | — |
| Peutz-Jeghers Syndrome | — | UNRESOLVED | — |
| SMAD4 Gene Mutation | — | UNRESOLVED | — |
Interventions
Interventions (0)
Data not yet available
No intervention recorded.
Design
Arms and outcomes
Arms (2)
- label
- Cohort 1. Li Fraumeni (TP53 mutations carriers)
- description
- Patients with a germline TP53 alteration included in this study will undergo their usual surveillance with their treating team. In addition to their routine scans or examinations, they will provide blood samples at enrollment, during the study (optional) and at the end of their participation (at 12 months). The results of any radiological scan undergone during this period will be collected retrospectively and added to their data collection, which will allow for a correlative analysis between the genetic and epigenetic results and radiological outcomes.
- label
- Cohort 2. Gastro-intestinal (GI) cohort
- description
- Patients with underlying germline conditions at high risk of developing a GI malignancy (approximately 40-50 patients) * Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM genes) * PTEN * STK11 (Peutz-Jeghers syndrome) * CDH1 and APC gene alterations carriers prior to their risk-reducing surgery if such is performed. * SMAD4 * MUTYH\* (\*biallelic variants) Carriers of CDH1 and APC pathogenic mutation are invited to give blood and optional urine samples before and after their surgery, if they undergo this intervention, with no need for sequential samples. Samples should be taken when convenient for the patient prior to and post-surgery.
Primary outcomes (1)
- measure
- Primary hypothesis
- timeFrame
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 18 Years
Show eligibility criteria text
Inclusion Criteria: 1. Patients over the age of 18 years old, with no active cancer 2. Carriers of a pathogenic/likely pathogenic variant in any of the following genes: TP53, Mismatch Repair genes (MLH1, MSH2, MSH6, PMS2, EPCAM), PTEN, STK11 (Peutz-Jeghers syndrome), CDH1, APC, SMAD4, MUTYH\* (\*biallelic carriers). 3. Able to consent to the study. Exclusion Criteria: 1. Carriers of a variant associated with reduced penetrance (in the view of a geneticist) or a variant of uncertain significance. 2. Patients with a malignancy diagnosed in the previous 5 years \[except non-melanomatous skin cancer or cervical carcinoma in situ (CIS)\].
References
Publications (18)
- BACKGROUNDClarke CA, Hubbell E, Kurian AW, Colditz GA, Hartman AR, Gomez SL. Projected Reductions in Absolute Cancer-Related Deaths from Diagnosing Cancers Before Metastasis, 2006-2015. Cancer Epidemiol Biomarkers Prev. 2020 May;29(5):895-902. doi: 10.1158/1055-9965.EPI-19-1366. Epub 2020 Mar 30. PMID 32229577
- BACKGROUNDKratz CP, Achatz MI, Brugieres L, Frebourg T, Garber JE, Greer MC, Hansford JR, Janeway KA, Kohlmann WK, McGee R, Mullighan CG, Onel K, Pajtler KW, Pfister SM, Savage SA, Schiffman JD, Schneider KA, Strong LC, Evans DGR, Wasserman JD, Villani A, Malkin D. Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome. Clin Cancer Res. 2017 Jun 1;23(11):e38-e45. doi: 10.1158/1078-0432.CCR-17-0408. PMID 28572266
- BACKGROUNDSaya S, Killick E, Thomas S, Taylor N, Bancroft EK, Rothwell J, Benafif S, Dias A, Mikropoulos C, Pope J, Chamberlain A, Gunapala R; SIGNIFY Study Steering Committee; Izatt L, Side L, Walker L, Tomkins S, Cook J, Barwell J, Wiles V, Limb L, Eccles D, Leach MO, Shanley S, Gilbert FJ, Hanson H, Gallagher D, Rajashanker B, Whitehouse RW, Koh DM, Sohaib SA, Evans DG, Eeles RA. Baseline results from the UK SIGNIFY study: a whole-body MRI screening study in TP53 mutation carriers and matched controls. Fam Cancer. 2017 Jul;16(3):433-440. doi: 10.1007/s10689-017-9965-1. PMID 28091804
- BACKGROUNDHanson H, Brady AF, Crawford G, Eeles RA, Gibson S, Jorgensen M, Izatt L, Sohaib A, Tischkowitz M, Evans DG; Consensus Group Members. UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants. J Med Genet. 2020 Jun 22;58(2):135-9. doi: 10.1136/jmedgenet-2020-106876. Online ahead of print. PMID 32571901
- BACKGROUNDMonahan KJ, Bradshaw N, Dolwani S, Desouza B, Dunlop MG, East JE, Ilyas M, Kaur A, Lalloo F, Latchford A, Rutter MD, Tomlinson I, Thomas HJW, Hill J; Hereditary CRC guidelines eDelphi consensus group. Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG). Gut. 2020 Mar;69(3):411-444. doi: 10.1136/gutjnl-2019-319915. Epub 2019 Nov 28.