Li-Fraumeni Syndrome
Conditions
Keywords
Li-Fraumeni Syndrome, Whole Body Magnetic Resonance Imaging, TP53, Psychological Impact
Brief summary
This study is aimed at exploring the use of whole body MRI for early cancer detection in TP53 mutation carriers and population controls, with the hypothesis that more cancers will be detected in the TP53 mutation carrier group. A secondary end-point will be the number of incidental findings detected and subsequent investigations required. A series of questionnaires will be used to assess the psychological impact of screening on both the study and control group.
Interventions
OTHERWhole body MRI
Individuals will undergo whole body and brain MRI
All recruits will complete questionnaires at 6 time points to assess psychological impact
Sponsors
Cancer Research UK
National Institute for Health Research, United Kingdom
Institute of Cancer Research, United Kingdom
Study design
Observational model
CASE_CONTROL
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to 60 Years
Healthy volunteers
Yes
Inclusion criteria
* Carrier of germline TP53 mutation which, in the view of the geneticist, is not known to be low penetrance OR non-related individual with no personal history of malignancy and no first degree relatives diagnosed with malignancy under the age of 50 years * Please note, TP53 carrier cohort is complete and no longer open to recruitment * Age between 18 and 60 * Able to give informed consent
Exclusion criteria
* Individual with low penetrance TP53 mutation * Individual with TP53 variant of unknown significance. * Previous malignancy diagnosed \< 5 years ago in TP53 carriers (except non-melanomatous skin cancer or cervical CIS) Previous history of malignancy in non-related controls (except non-melanomatous skin cancer or cervical CIS) * Current symptoms suggestive of malignancy * Contraindication to MRI (such as non-MR compatible metal implants) as specified by the standard MR safety checklist * Claustrophobia * ECOG performance status \>2
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Diagnosis of malignant disease | Within 12 months of MRI scan | Following MRI scan further investigations may be required to diagnose malignancy |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Diagnosis of relevant non-malignant disease | 12 months following MRI scan | Further investigations may be required following the MRI to characterise such findings. |
| Diagnosis of non-relevant disease, number and type of investigations required | 12 months following MRI | — |
| Psychological impact of MRI screening | 12 months following MRI screening | Psychological questionnaires to be completed at intervals up till 12 months post scan |
Countries
United Kingdom
Outcome results
None listed