Psychosocial effects of whole-body MRI screening in adult high-risk pathogenic TP53 mutation carriers: A case-controlled study (SIGNIFY)
Psychosocial effects of whole-body MRI screening in adult high-risk pathogenic TP53 mutation carriers: A case-controlled study (SIGNIFY)
Background Germline TP53 gene pathogenic variants (pv) cause a very high lifetime risk of developing cancer, almost 100% for women and 75% for men. In the UK, annual MRI breast screening is recommended for female TP53 pv carriers. The SIGNIFY study (Magnetic Resonance Imaging screening in Li Fraumeni syndrome: An exploratory whole body MRI) 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 terms. 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. Carriers of pv 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.
Li-Fraumeni syndrome, MRI, TP53 gene pathogenic variant, case controlled study, psychosocial
226-236
Saya, Sibel
6eed0054-4fe3-4af6-9b83-1d92f3675197
Killick, Emma
dcfcbc2c-0f9e-4e9b-843b-e4e3c7236369
et al,
867c20e9-3220-49c5-b89e-aac82d31ba5e
Eccles, Diana
5b59bc73-11c9-4cf0-a9d5-7a8e523eee23
et al.,
96c90377-641f-4276-9d09-6968e3f36258
1 April 2020
Saya, Sibel
6eed0054-4fe3-4af6-9b83-1d92f3675197
Killick, Emma
dcfcbc2c-0f9e-4e9b-843b-e4e3c7236369
et al,
867c20e9-3220-49c5-b89e-aac82d31ba5e
Eccles, Diana
5b59bc73-11c9-4cf0-a9d5-7a8e523eee23
et al.,
96c90377-641f-4276-9d09-6968e3f36258
Saya, Sibel, Killick, Emma, et al, , Eccles, Diana and et al.,
(2020)
Psychosocial effects of whole-body MRI screening in adult high-risk pathogenic TP53 mutation carriers: A case-controlled study (SIGNIFY).
Journal of Medical Genetics, 57 (4), .
(doi: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 women and 75% for men. In the UK, annual MRI breast screening is recommended for female TP53 pv carriers. The SIGNIFY study (Magnetic Resonance Imaging screening in Li Fraumeni syndrome: An exploratory whole body MRI) 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 terms. 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. Carriers of pv 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.
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SIGNIFY Psychosocial Manuscript_Revised_CLEAN_COPY_FINAL
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Accepted/In Press date: 21 September 2019
e-pub ahead of print date: 12 November 2019
Published date: 1 April 2020
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Funding Information:
Funding This work was supported by a grant from The annabel evans Memorial Fund to The royal Marsden cancer charity. This study represents independent research supported by the national institute for health research (nihr) Biomedical research centre at The royal Marsden nhs Foundation Trust and the institute of cancer research, london. The views expressed are those of the authors and not necessarily those of the nihr or the Department of health and social care. This study was supported by 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). Dge is supported by an nihr research grant to the Biomedical research centre Manchester (is-Brc-1215-20007). Fg receives funding from the nihr as a senior investigator.
Publisher Copyright:
© Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.
Keywords:
Li-Fraumeni syndrome, MRI, TP53 gene pathogenic variant, case controlled study, psychosocial
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Local EPrints ID: 434755
URI: http://eprints.soton.ac.uk/id/eprint/434755
ISSN: 0022-2593
PURE UUID: 185bed6a-d15a-43a8-9f47-afc29be00514
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Date deposited: 08 Oct 2019 16:30
Last modified: 17 Mar 2024 02:36
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