Psychosocial effects of whole-body MRI screening in adult high-risk pathogenic <i>TP53</i> mutation carriers: a case-controlled study (SIGNIFY).
Cook, Jackie A
Whitehouse, Richard W
Sohaib, S Aslam
Walker, Leslie G
Journal of medical genetics
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Bancroft, E. K., Saya, S., Brown, E., Thomas, S., Taylor, N., Rothwell, J., Pope, J., et al. (2020). Psychosocial effects of whole-body MRI screening in adult high-risk pathogenic <i>TP53</i> mutation carriers: a case-controlled study (SIGNIFY).. Journal of medical genetics, 57 (4), 226-236. https://doi.org/10.1136/jmedgenet-2019-106407
ABSTRACT Background: Germline TP53 gene pathogenic variants (pv) cause a very high lifetime risk of developing cancer, almost 100% for females and 75% for males. In the UK, annual magnetic resonance imaging (MRI) breast screening is recommended for female TP53 pv carriers. The SIGNIFY study reported outcomes of whole-body MRI (WB-MRI) in a cohort of 44 TP53 pv carriers and 44 matched population controls. The results supported the use of a baseline WB-MRI screen in all adult TP53 pv carriers. Here we report the acceptability of WB-MRI screening and effects on psychosocial functioning and health-related quality-of-life in the short and medium term. Methods: Psychosocial and other assessments were carried out at study enrolment, immediately before MRI, before and after MRI results, and at 12, 26 and 52 weeks follow-up. Results: WB-MRI was found to be acceptable with high levels of satisfaction and low levels of psychological morbidity throughout. Although their mean levels of cancer worry were not high, carriers had significantly more cancer worry at most time-points than controls. They also reported significantly more clinically significant intrusive and avoidant thoughts about cancer than controls at all time-points. There were no clinically significant adverse psychosocial outcomes in either carriers with a history of cancer, or in those requiring further investigations. Conclusion: WB-MRI screening can be implemented in TP53 pv carriers without adverse psychosocial outcomes in the short and medium terms. A previous cancer diagnosis may predict a better psychosocial outcome. Some carriers seriously underestimate their risk of cancer. PV carriers should have access to a clinician to help them develop adaptive strategies to cope with cancer-related concerns and respond to clinically significant depression and/or anxiety.
Humans, Neoplasms, Li-Fraumeni Syndrome, Genetic Predisposition to Disease, Magnetic Resonance Imaging, Risk Factors, Heterozygote, Germ-Line Mutation, Adult, Middle Aged, Female, Male, Tumor Suppressor Protein p53, Whole Body Imaging, Young Adult
This work was supported by a grant from The Annabel Evans Memorial Fund to The Royal Marsden Cancer Charity. The investigators atThe Institute of Cancer Research and The Royal Marsden NHS Foundation Trust are supported by NIHR research grants to the Biomedical Research Centre and the Clinical Research Facility at The Institute of Cancer Research and The Royal Marsden NHS Foundation Trust, together with support to the CRUK Cancer Imaging Centre (C1060/A16464). Prof D. Gareth Evans is supported by an NIHR research grant to the Biomedical Research Centre Manchester (IS-BRC-1215-20007). Prof Fiona Gilbert receives funding from the NIHR as a Senior investigator.
Department of Health (via National Institute for Health Research (NIHR)) (NF-SI-0515-10067)
External DOI: https://doi.org/10.1136/jmedgenet-2019-106407
This record's URL: https://www.repository.cam.ac.uk/handle/1810/297102
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