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The psychosocial effects of whole body MRI screening in adult high risk pathogenic TP53 mutation carriers: a case-controlled study (SIGNIFY)

The psychosocial effects of whole body MRI screening in adult high risk pathogenic TP53 mutation carriers: a case-controlled study (SIGNIFY)
The psychosocial effects of whole body MRI screening in adult high risk pathogenic TP53 mutation carriers: a case-controlled study (SIGNIFY)
Background: Germline TP53 gene mutations cause a very high risk of developing cancer, with lifetime risks of almost 100% for females and 75% for males. In the UK, annual MRI breast screening is recommended for female TP53 mutation carriers. The SIGNIFY study reported outcomes of whole-body MRI (WB-MRI) in a cohort of 44 TP53 mutation carriers and 44 matched population controls. The results supported the use of a baseline WB-MRI screen in all adult TP53 mutation carriers. Here we report the acceptability of WB-MRI screening and effects on psychosocial functioning and health-related quality of life.

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. Carriers had significantly more cancer worries at most time-points, and reported experiencing 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 mutation carriers without long-term adverse psychosocial outcomes; a previous cancer diagnosis may predict a better psychosocial outcome. Some carriers seriously underestimate their risk of cancer. They 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
0022-2593
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
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) The 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), 226-236. (doi:10.1136/jmedgenet-2019-106407).

Record type: Article

Abstract

Background: Germline TP53 gene mutations cause a very high risk of developing cancer, with lifetime risks of almost 100% for females and 75% for males. In the UK, annual MRI breast screening is recommended for female TP53 mutation carriers. The SIGNIFY study reported outcomes of whole-body MRI (WB-MRI) in a cohort of 44 TP53 mutation carriers and 44 matched population controls. The results supported the use of a baseline WB-MRI screen in all adult TP53 mutation carriers. Here we report the acceptability of WB-MRI screening and effects on psychosocial functioning and health-related quality of life.

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. Carriers had significantly more cancer worries at most time-points, and reported experiencing 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 mutation carriers without long-term adverse psychosocial outcomes; a previous cancer diagnosis may predict a better psychosocial outcome. Some carriers seriously underestimate their risk of cancer. They 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 - Accepted Manuscript
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More information

Accepted/In Press date: 21 September 2019
e-pub ahead of print date: 12 November 2019
Published date: 24 March 2020
Keywords: Li-Fraumeni syndrome, MRI, TP53 gene pathogenic variant, case controlled study, psychosocial

Identifiers

Local EPrints ID: 434755
URI: http://eprints.soton.ac.uk/id/eprint/434755
ISSN: 0022-2593
PURE UUID: 185bed6a-d15a-43a8-9f47-afc29be00514
ORCID for Diana Eccles: ORCID iD orcid.org/0000-0002-9935-3169

Catalogue record

Date deposited: 08 Oct 2019 16:30
Last modified: 26 Nov 2021 02:34

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Contributors

Author: Sibel Saya
Author: Emma Killick
Author: et al
Author: Diana Eccles ORCID iD
Author: et al.

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