Magnetic Resonance Imaging Screening in Li Fraumeni Syndrome

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

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.

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