SIGNIFY: Magnetic Resonance Imaging Screening in Li Fraumeni Syndrome

Sponsor

Institute of Cancer Research, United Kingdom (Other)

Overall Status

Completed

CT.gov ID

NCT01737255

Collaborator

Cancer Research UK (Other), National Institute for Health Research, United Kingdom (Other)

Enrollment

Location

Duration (Months)

1.4

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Li-Fraumeni Syndrome	Other: Whole body MRI Other: Psychological questionnaires

Study Design

Study Type:

Observational

Actual Enrollment :

88 participants

Observational Model:

Case-Control

Time Perspective:

Prospective

Official Title:

Magnetic Resonance Imaging Screening In Li Fraumeni Syndrome: An Exploratory Whole Body MRI Study

Study Start Date :

Oct 1, 2012

Actual Primary Completion Date :

Sep 1, 2016

Actual Study Completion Date :

Dec 1, 2017

Arms and Interventions

Arm	Intervention/Treatment
TP53 mutation carriers Carriers of TP53 mutation not known to be low penetrance	Other: Whole body MRI Individuals will undergo whole body and brain MRI Other: Psychological questionnaires All recruits will complete questionnaires at 6 time points to assess psychological impact
Population controls Population controls will be sex and aged matched (+/- 5 years) to the TP53 mutation carrier group, with no personal history of cancer and no family history of cancer diagnosed under 50 years	Other: Whole body MRI Individuals will undergo whole body and brain MRI Other: Psychological questionnaires All recruits will complete questionnaires at 6 time points to assess psychological impact

Arm

Intervention/Treatment

TP53 mutation carriers

Carriers of TP53 mutation not known to be low penetrance

Other: Whole body MRI

Individuals will undergo whole body and brain MRI

Other: Psychological questionnaires

All recruits will complete questionnaires at 6 time points to assess psychological impact

Population controls

Population controls will be sex and aged matched (+/- 5 years) to the TP53 mutation carrier group, with no personal history of cancer and no family history of cancer diagnosed under 50 years

Other: Whole body MRI

Individuals will undergo whole body and brain MRI

Other: Psychological questionnaires

All recruits will complete questionnaires at 6 time points to assess psychological impact

Outcome Measures

Primary Outcome Measures

Diagnosis of malignant disease [Within 12 months of MRI scan]
Following MRI scan further investigations may be required to diagnose malignancy

Secondary Outcome Measures

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

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years to 60 Years

Sexes Eligible for Study:

All

Accepts 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