Early cancer detection for individuals with inherited genetic conditions

Inherited Cancer Early Diagnosis (ICED) Study Liquid Biopsy Screening for Early Diagnosis of Cancers in Patients With Cancer-predisposition Syndromes

Observational Royal Marsden NHS Foundation Trust · NCT06163365

This study is testing if blood and urine samples from people with certain inherited genetic conditions can help find cancer earlier and improve survival rates.

Quick facts

Study typeObservational
Enrollment100 (estimated)
Ages18 Years and up
SexAll
SponsorRoyal Marsden NHS Foundation Trust Academic / other
Locations1 site (London)
Trial IDNCT06163365 on ClinicalTrials.gov

What this trial studies

The ICED study aims to collect blood and urine samples from individuals at high risk of developing cancer due to specific genetic alterations. By analyzing these samples, the study seeks to develop or validate biomarkers that could enable early detection of cancers associated with hereditary syndromes. This approach addresses the limitations of current surveillance methods, which can be costly and invasive, and aims to improve early diagnosis to reduce cancer-related mortality. Participants must be over 18 years old and carry specific pathogenic variants, while those with recent malignancies are excluded.

Who should consider this trial

Good fit: Ideal candidates are adults over 18 who carry pathogenic variants in specific cancer-related genes and have no active cancer.

Not a fit: Patients with a malignancy diagnosed in the past five years or those with variants of uncertain significance may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to earlier cancer detection in high-risk individuals, potentially reducing mortality rates.

How similar studies have performed: Other studies have shown promise in using biomarkers for early cancer detection, but this specific approach is relatively novel.

Eligibility criteria

Show full inclusion / exclusion criteria
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 \[except non-melanomatous skin cancer or cervical carcinoma in situ (CIS)\].

Where this trial is running

London

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions Li Fraumeni SyndromeLynch SyndromeHereditary Diffuse Gastric CancerCowden SyndromePeutz-Jeghers SyndromeFamilial Adenomatous PolyposisSMAD4 Gene MutationMutYH-associated Polyposis
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.