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

Elizabeth K Bancroft; Sibel Saya; Emma Brown; Sarah Thomas; Natalie Taylor; Jeanette Rothwell; Jennifer Pope; Anthony Chamberlain; Elizabeth Page; Sarah Benafif; Helen Hanson; Alexander Dias; Christos Mikropoulos; Louise Izatt; Lucy Side; Lisa Walker; Alan Donaldson; Jackie A Cook; Julian Barwell; Vicki Wiles; Lauren Limb; Diana M Eccles; Martin O Leach; Susan Shanley; Fiona J Gilbert; David Gallagher; Balashanmugam Rajashanker; Richard W Whitehouse; Dow-Mu Koh; S Aslam Sohaib; D Gareth Evans; Rosalind A Eeles; Leslie G Walker

doi:10.1136/jmedgenet-2019-106407

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

Elizabeth K Bancroft, Sibel Saya, Emma Brown, Sarah Thomas, Natalie Taylor, Jeanette Rothwell, Jennifer Pope, Anthony Chamberlain, Elizabeth Page, Sarah Benafif, Helen Hanson, Alexander Dias, Christos Mikropoulos, Louise Izatt, Lucy Side, Lisa Walker, Alan Donaldson, Jackie A Cook, Julian Barwell, Vicki WilesLauren Limb, Diana M Eccles, Martin O Leach, Susan Shanley, Fiona J Gilbert, David Gallagher, Balashanmugam Rajashanker, Richard W Whitehouse, Dow-Mu Koh, S Aslam Sohaib, D Gareth Evans, Rosalind A Eeles, Leslie G Walker

Medical & Molecular Genetics

Research output: Contribution to journal › Article › peer-review

18 Citations (Scopus)

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.

Original language	English
Pages (from-to)	226-236
Number of pages	11
Journal	Journal of Medical Genetics
Volume	57
Issue number	4
DOIs	https://doi.org/10.1136/jmedgenet-2019-106407
Publication status	Published - Apr 2020

Keywords

Li-Fraumeni syndrome
MRI
TP53 gene pathogenic variant
case controlled study
psychosocial

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10.1136/jmedgenet-2019-106407

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Bancroft, E. K., Saya, S., Brown, E., Thomas, S., Taylor, N., Rothwell, J., Pope, J., Chamberlain, A., Page, E., Benafif, S., Hanson, H., Dias, A., Mikropoulos, C., Izatt, L., Side, L., Walker, L., Donaldson, A., Cook, J. A., Barwell, J., ... Walker, L. G. (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), 226-236. https://doi.org/10.1136/jmedgenet-2019-106407

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title = "Psychosocial effects of whole-body MRI screening in adult high-risk pathogenic TP53 mutation carriers: a case-controlled study (SIGNIFY)",

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.",

keywords = "Li-Fraumeni syndrome, MRI, TP53 gene pathogenic variant, case controlled study, psychosocial",

author = "Bancroft, {Elizabeth K} and Sibel Saya and Emma Brown and Sarah Thomas and Natalie Taylor and Jeanette Rothwell and Jennifer Pope and Anthony Chamberlain and Elizabeth Page and Sarah Benafif and Helen Hanson and Alexander Dias and Christos Mikropoulos and Louise Izatt and Lucy Side and Lisa Walker and Alan Donaldson and Cook, {Jackie A} and Julian Barwell and Vicki Wiles and Lauren Limb and Eccles, {Diana M} and Leach, {Martin O} and Susan Shanley and Gilbert, {Fiona J} and David Gallagher and Balashanmugam Rajashanker and Whitehouse, {Richard W} and Dow-Mu Koh and Sohaib, {S Aslam} and Evans, {D Gareth} and Eeles, {Rosalind A} and Walker, {Leslie G}",

note = "{\textcopyright} 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.",

year = "2020",

month = apr,

doi = "10.1136/jmedgenet-2019-106407",

language = "English",

volume = "57",

pages = "226--236",

journal = "Journal of Medical Genetics",

issn = "0022-2593",

publisher = "B M J PUBLISHING GROUP",

number = "4",

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Bancroft, EK, Saya, S, Brown, E, Thomas, S, Taylor, N, Rothwell, J, Pope, J, Chamberlain, A, Page, E, Benafif, S, Hanson, H, Dias, A, Mikropoulos, C, Izatt, L, Side, L, Walker, L, Donaldson, A, Cook, JA, Barwell, J, Wiles, V, Limb, L, Eccles, DM, Leach, MO, Shanley, S, Gilbert, FJ, Gallagher, D, Rajashanker, B, Whitehouse, RW, Koh, D-M, Sohaib, SA, Evans, DG, Eeles, RA & Walker, LG 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, vol. 57, no. 4, pp. 226-236. https://doi.org/10.1136/jmedgenet-2019-106407

TY - JOUR

T1 - Psychosocial effects of whole-body MRI screening in adult high-risk pathogenic TP53 mutation carriers

T2 - a case-controlled study (SIGNIFY)

AU - Bancroft, Elizabeth K

AU - Saya, Sibel

AU - Brown, Emma

AU - Thomas, Sarah

AU - Taylor, Natalie

AU - Rothwell, Jeanette

AU - Pope, Jennifer

AU - Chamberlain, Anthony

AU - Page, Elizabeth

AU - Benafif, Sarah

AU - Hanson, Helen

AU - Dias, Alexander

AU - Mikropoulos, Christos

AU - Izatt, Louise

AU - Side, Lucy

AU - Walker, Lisa

AU - Donaldson, Alan

AU - Cook, Jackie A

AU - Barwell, Julian

AU - Wiles, Vicki

AU - Limb, Lauren

AU - Eccles, Diana M

AU - Leach, Martin O

AU - Shanley, Susan

AU - Gilbert, Fiona J

AU - Gallagher, David

AU - Rajashanker, Balashanmugam

AU - Whitehouse, Richard W

AU - Koh, Dow-Mu

AU - Sohaib, S Aslam

AU - Evans, D Gareth

AU - Eeles, Rosalind A

AU - Walker, Leslie G

PY - 2020/4

Y1 - 2020/4

N2 - 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.

AB - 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.

KW - Li-Fraumeni syndrome

KW - MRI

KW - TP53 gene pathogenic variant

KW - case controlled study

KW - psychosocial

UR - http://www.scopus.com/inward/record.url?scp=85074979251&partnerID=8YFLogxK

U2 - 10.1136/jmedgenet-2019-106407

DO - 10.1136/jmedgenet-2019-106407

M3 - Article

C2 - 31719169

SN - 0022-2593

VL - 57

SP - 226

EP - 236

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 4

ER -

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

Abstract

Keywords

UN SDGs

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