Inherited Cancer Early Diagnosis (ICED) Study Liquid Biopsy Screening for Early Diagnosis of Cancers in Patients With Cancer-predisposition Syndromes
Status: Recruiting
Location: See location...
Study Type: Observational
SUMMARY
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.
Eligibility
Participation Requirements
Sex: All
Minimum Age: 18
View:
• Patients over the age of 18 years old, with no active cancer
• 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).
• Able to consent to the study.
Locations
Other Locations
United Kingdom
The Royal Marsden NHS Foundation Trust
RECRUITING
London
Contact Information
Primary
Elena Cojocaru
elena.cojocaru@rmh.nhs.uk
020 3186 5384
Backup
Lydia Taylor
lydia.taylor@rmh.nhs.uk
020 3186 5384
Time Frame
Start Date: 2022-07-26
Estimated Completion Date: 2025-07-26
Participants
Target number of participants: 100
Treatments
Cohort 1. Li Fraumeni (TP53 mutations carriers)
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.
Cohort 2. Gastro-intestinal (GI) cohort
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.
Related Therapeutic Areas
Sponsors
Leads: Royal Marsden NHS Foundation Trust