Magnetic Resonance Imaging Screening in Li Fraumeni Syndrome (SIGNIFY)
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ClinicalTrials.gov Identifier: NCT01737255 |
Recruitment Status :
Completed
First Posted : November 29, 2012
Last Update Posted : March 31, 2022
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Condition or disease | Intervention/treatment |
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Li-Fraumeni Syndrome | Other: Whole body MRI Other: Psychological questionnaires |
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 : | October 2012 |
Actual Primary Completion Date : | September 2016 |
Actual Study Completion Date : | December 2017 |

Group/Cohort | Intervention/treatment |
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TP53 mutation carriers
Carriers of TP53 mutation not known to be low penetrance
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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
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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 |
- Diagnosis of malignant disease [ Time Frame: Within 12 months of MRI scan ]Following MRI scan further investigations may be required to diagnose malignancy
- Diagnosis of relevant non-malignant disease [ Time Frame: 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 [ Time Frame: 12 months following MRI ]
- Psychological impact of MRI screening [ Time Frame: 12 months following MRI screening ]Psychological questionnaires to be completed at intervals up till 12 months post scan

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Ages Eligible for Study: | 18 Years to 60 Years (Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | Yes |
Sampling Method: | Non-Probability Sample |
The TP53 mutation carriers will be recruited from genetics clinics and through advertising.
The population controls will be recruited through advertising
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

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01737255
United Kingdom | |
Cancer Genetics Unit, Royal Marsden Hospital | |
Sutton, Surrey, United Kingdom, SM2 5PT |
Principal Investigator: | Rosalind Eeles, PhD | Institute of Cancer Research, Surrey, UK |
Responsible Party: | Institute of Cancer Research, United Kingdom |
ClinicalTrials.gov Identifier: | NCT01737255 |
Other Study ID Numbers: |
CCR3802 |
First Posted: | November 29, 2012 Key Record Dates |
Last Update Posted: | March 31, 2022 |
Last Verified: | March 2022 |
Individual Participant Data (IPD) Sharing Statement: | |
Plan to Share IPD: | Yes |
Plan Description: | Anonymised data can be applied for via the Steering Committee |
Li-Fraumeni Syndrome Whole Body Magnetic Resonance Imaging TP53 Psychological Impact |
Li-Fraumeni Syndrome Syndrome Disease Pathologic Processes Neoplastic Syndromes, Hereditary |
Neoplasms Genetic Diseases, Inborn DNA Repair-Deficiency Disorders Metabolic Diseases |