Skip to main content

Advertisement

SpringerLink
Log in

Psychosocial morbidity in TP53 mutation carriers: is whole-body cancer screening beneficial?

  • Original Article
  • Published:
Familial Cancer Aims and scope Submit manuscript

Abstract

Germline TP53 mutation carriers are at high risk of developing a range of cancers. Effective cancer risk management is an important issue for these individuals. We assessed the psychosocial impact in TP53 mutation carriers of WB-MRI screening as part of the Surveillance in Multi-Organ Cancer (SMOC+) protocol, measuring their unmet needs, anxiety and depression levels as well as cancer worry using psychological questionnaires and in-depth interviews about their experiences of screening. We present preliminary psychosocial findings from 17 participants during their first 12 months on the trial. We found a significant reduction in participants’ mean anxiety from baseline to two weeks post WB-MRI (1.2, 95% CI 0.17 to 2.23 p = 0.025), indicative of some benefit. Emerging qualitative themes show most participants are emotionally supported and contained by the screening program and are motivated by their immediate concern about staying alive, despite being informed about the current lack of evidence around efficacy of screening for people with TP53 mutations in terms of cancer morbidity or mortality. For those that do gain emotional reassurance from participating in the screening study, feelings of abandonment by the research team are a risk when the study ends. For others, screening was seen as a burden, consistent with the relentless nature of cancer risk associated with Li-Fraumeni syndrome, though these patients still declared they wished to participate due to their concern with staying alive. Families with TP53 mutations need ongoing support due to the impact on the whole family system. These findings suggest a comprehensive multi-organ screening program for people with TP53 mutations provides psychological benefit independent of an impact on cancer morbidity and mortality associated with the syndrome. The benefits of a multi-organ screening program will be greater still if the screening tests additionally reduce the cancer morbidity and mortality associated with the syndrome. These findings may also inform the care of individuals and families with other multi-organ cancer predisposition syndromes.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

Similar content being viewed by others

References

  1. Malkin D (2011) Li-fraumeni syndrome. Genes cancer 2(4):475–484

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  2. Kamihara J, Rana HQ, Garber JE (2014) Germline TP53 Mutations and the Changing Landscape of Li-Fraumeni Syndrome. Hum Mutat 35(6):654–662. doi:10.1002/humu.22559

    Article  CAS  PubMed  Google Scholar 

  3. McBride KA, Ballinger ML, Killick E et al (2014) Li-Fraumeni syndrome: cancer risk assessment and clinical management. Nature Reviews. Clin Oncol 11(5):260–271. doi:10.1038/nrclinonc.2014.41

    CAS  Google Scholar 

  4. Li FP, Fraumeni JF, Mulvihill JJ, et al. (1988) A cancer family syndrome in 24 kindreds. Cancer Research 48(18): 5358–5362

    Google Scholar 

  5. Ruijs MWG, Verhoef S, Rookus MA et al (2010) TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes. J Med Genet 47(6):421–428. doi:10.1136/jmg.2009.073429

    Article  CAS  PubMed  Google Scholar 

  6. Bougeard G, Renaux-Petel M, Flama J-M, et al. (2015) Revisiting Li-Fraumeni Syndrome from TP53 mutation carriers. Journal of Clinical Oncology Published ahead of print: doi: 10.1200/JCO.2014.59.5728

    Google Scholar 

  7. Hwang SJ, Lozano G, Amos CI, Strong LC (2003) Germline p53 mutations in a cohort with childhood sarcoma: Sex differences in cancer risk. Am J Hum Genet 72(4):975–983

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  8. Lustbader ED, Williams WR, Bondy ML, Strom S, Strong LC (1992) Segregation analysis of cancer in families of childhood soft-tissue-sarcoma patients. Am J Hum Genet 51(2):344–356

    CAS  PubMed  PubMed Central  Google Scholar 

  9. Limacher JM, Frebourg T, Natarajan-Ame S, Bergerat JP (2001) Two metachronous tumors in the radiotherapy fields of a patient with Li-Fraumeni syndrome. Int J Cancer 96(4):238–242. doi:10.1002/ijc.1021

    Article  CAS  PubMed  Google Scholar 

  10. Chadaz T, Hobbs SK, Son H (2013) Chest Wall Sarcoma F-18-FDG PET/CT in a Patient With Li-Fraumeni Syndrome. Clin Nucl Med 38(10):818–820

    Article  PubMed  Google Scholar 

  11. Peters J, Kene R, Bremer R, Givens S, Savage S, Mai P (2015) Easing the Burden: Describing the Role of Social, Emotional and Spiritual Support in Research Families with Li-Fraumeni Syndrome. Journal of Genetic Counseling

  12. Evans DG, Lunt P, Clancy T, Eeles R (2010) Childhood predictive genetic testing for Li-Fraumeni syndrome. Familial Cancer 9(1):65–69. doi:10.1007/s10689-009-9245-9

    Article  CAS  PubMed  Google Scholar 

  13. Australia New Zealand Clinical Trials Registry (2013 September 4) A pilot surveillance study investigating whole body magnetic resonance imaging and other diagnostic procedures in people at high risk of cancer (SMOC) ACTRN12613000987763. http://www.ANZCTR.org.au/ACTRN12613000987763.aspx. Sydney (NSW), NHMRC Clinical Trials Centre, University of Sydney (Australia)

  14. ClinicalTrials.gov (2011 October 31) LIFSCREEN : Evaluation of Whole Body MRI for Early Detection of Cancers in Subjects With P53 Mutation (Li-Fraumeni Syndrome) NCT01464086. Bethsheda (MD), National Library of Medicine (US)

  15. Clinicaltrials.gov (2012 27 November) Magnetic Resonance Imaging Screening in Li Fraumeni Syndrome (SIGNIFY)NCT01737255. In (US) NLoM (ed). vol. 28 January. Bethsheda (MD)

  16. Patenaude AF, Schneider KA, Kieffer SA et al (1996) Acceptance of invitations for p53 and BRCA1 predisposition testing: Factors influencing potential utilization of cancer genetic testing. Psycho-Oncology 5(3):241–250. doi:10.1002/(sici)1099-1611(199609)5:3 3.3.co;2-y

    Article  Google Scholar 

  17. Lammens CRM, Bleiker EMA, Aaronson NK et al (2010) Regular surveillance for Li-fraumeni syndrome: advice, adherence and perceived benefits. Familial Cancer 9(4):647–654. doi:10.1007/s10689-010-9368-z

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  18. Maheu C, Vodermaier A, Rothenmund H et al (2010) Pancreatic cancer risk counselling and screening: impact on perceived risk and psychological functioning. Familial Cancer 9(4):617–624. doi:10.1007/s10689-010-9354-5

    Article  PubMed  Google Scholar 

  19. Hutton J, Walker LG, Gilbert FJ et al (2011) Psychological impact and acceptability of magnetic resonance imaging and X-ray mammography: the MARIBS Study. Br J Cancer 104(4):578–586. doi:10.1038/bjc.2011.1

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  20. Gopie JP, Vasen HFA, Tibben A (2012) Surveillance for hereditary cancer: Does the benefit outweigh the psychological burden?-A systematic review. Critical Reviews in Oncology Hematology 83(3): doi:10.1016/j.critrevonc.2012.01.004

    Google Scholar 

  21. Teddlie C, Tashakkori A (2009) The foundations of mixed methods research: Integrating quantitative and qualitative techniques in the social and behavioural sciences. Sage, Thousand Oaks, CA

    Google Scholar 

  22. Tashakkori A, Teddlie C (2010) Sage Handbook of Mixed Methods in Social & Behavioral Research, 2nd edn. Sage, Thousand Oaks

    Book  Google Scholar 

  23. Creswell JW (1994) Research design: Qualitative and quantitative approaches. Thousand Oaks, CA

  24. Patton MQ (2002) Qualitative Research and evaluation methods. Sage, Thousand Oaks

    Google Scholar 

  25. Zigmond AS, Snaith RP (1983) The Hospital Anxiety and depression scale. Acta Psychiatr Scand 67(6):361–370. doi:10.1111/j.1600-0447.1983.tb09716.x

    Article  CAS  PubMed  Google Scholar 

  26. Horowitz M, Wilner N, Alvarez W (1979) Impact of event scale—measure of subjective stress. Psychosom Med 41(3):209–218

    Article  CAS  PubMed  Google Scholar 

  27. Lerman C, Narod S, Schulman K, et al. (1996) BRCA1 testing in families with hereditary breast-ovarian cancer - A prospective study of patient decision making and outcomes. Jama-Journal of the American Medical Association 275(24): 1885–92 doi:10.1001/jama.275.24.1885

  28. Lerman C, Trock B, Rimer BK, Jepson C, Brody D, Boyce A (1991) Psychological side-effects of breast cancer screening. Health Psychol 10(4):259–267. doi:10.1037/0278-6133.10.4.259

    Article  CAS  PubMed  Google Scholar 

  29. Douma KFL, Aaronson NK, Vasen HFA et al (2010) Psychological distress and use of psychosocial support in familial adenomatous polyposis. Psycho-Oncology 19(3):289–298. doi:10.1002/pon.1570

    Article  PubMed  Google Scholar 

  30. IBM Corp (2012) IBM SPSS Statistics for Windows, Version 21.0, IBM Corp., Armonk, NY

    Google Scholar 

  31. Custers JAE, van den Berg SW, van Laarhoven HWM, Bleiker EMA, Gielissen MFM, Prins JB (2014) The cancer worry scale detecting fear of recurrence in breast cancer survivors. Cancer Nurs 37(1):E44–E50. doi:10.1097/NCC.0b013e3182813a17

    Article  PubMed  Google Scholar 

  32. Lammens CRM, Aaronson NK, Wagner A et al (2010) Genetic testing in li-fraumeni syndrome: uptake and psychosocial consequences. J Clin Oncol 28(18):3008–3014. doi:10.1200/jco.2009.27.2112

    Article  PubMed  Google Scholar 

  33. Peterson SK, Pentz RD, Marani SK et al (2008) Psychological functioning in persons considering genetic counseling and testing for Li-Fraumeni syndrome. Psycho-Oncology 17(8):783–789. doi:10.1002/pon.1352

    Article  PubMed  Google Scholar 

  34. Dewey M, Schink T, Dewey CF (2007) Claustrophobia during magnetic resonance imaging: Cohort study in over 55,000 patients. J Magn Reson Imaging 26(5):1322–1327. doi:10.1002/jmri.21147

    Article  PubMed  Google Scholar 

  35. Tazegul G, Etcioglu E, Yildiz F, Yildiz R, Tuney D (2015) Can MRI related patient anxiety be prevented? Magn Reson Imaging 33(1):180–183. doi:10.1016/j.mri.2014.08.024

    Article  PubMed  Google Scholar 

  36. Caruso A, Bongiorno L, Vallini I, Russo P, Tomao F, Grandinetti ML (2006) Breast cancer and distress resulting from magnetic resonance imaging (MRI): the impact of a psychological intervention of emotional and informative support. J Exp Clin Cancer Res 25(4):499–505

    CAS  PubMed  Google Scholar 

  37. Townsend A, Cox SM (2013) Accessing health services through the back door: a qualitative interview study investigating reasons why people participate in health research in Canada. Bmc Med Ethics 14: doi:10.1186/1472-6939-14-40

  38. Power TE, Robinson JW, Bridge P, Bernier FP, Gilchrist DM (2011) Distress and psychosocial needs of a heterogeneous high risk familial cancer population. J Genet Couns 20(3):249–269. doi:10.1007/s10897-010-9344-7

    Article  PubMed  Google Scholar 

  39. Brennan ME, Robinson K, Brand A, Kirk J (2008) A multidisciplinary risk management clinic for women at high genetic risk of breast and ovarian cancer - Experience and evaluation. Breast 17(2):206–207. doi:10.1016/j.breast.2007.11.021

    Article  Google Scholar 

  40. White VM, Young M-A, Farrelly A et al (2014) Randomized Controlled Trial of a Telephone-Based Peer-Support Program for Women Carrying a BRCA1 or BRCA2 Mutation: Impact on Psychological Distress. J Clin Oncol 32(36):4073–4285. doi:10.1200/jco.2013.54.1607

    Article  PubMed  Google Scholar 

  41. Iredale R, Mundy L, Hilgart J (2011) An online resource of digital stories about cancer genetics: qualitative study of patient preferences and information needs. J Med Internet Res 13(3): doi:10.2196/jmir.1735

    PubMed  PubMed Central  Google Scholar 

  42. Landsbergen KM, Brunner HG, Manders P, Hoogerbrugge N, Prins JB (2010) Educational-support groups for BRCA mutation carriers satisfy the need for information but do not affect emotional distress. Genet Couns 21(4):423–437

    CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. School of Science and Health and Centre for Health Research, Western Sydney University, Building 3, Centre for Health Research, Campbelltown, NSW, 2560, Australia

    Kate A. McBride

  2. Sydney School of Public Health, Camperdown, NSW, 2006, Australia

    Kate A. McBride & Timothy E. Schlub

  3. The Kinghorn Cancer Centre, Garvan Institute of Medical Research, Darlinghurst, NSW, 2010, Australia

    Mandy L. Ballinger & David M. Thomas

  4. Familial Cancer Clinic, Peter MacCallum Cancer Centre, E. Melbourne, VIC, 3002, Australia

    Mary-Anne Young, Sue Shanley & Gillian Mitchell

  5. Department of Cancer Medicine, The Chris O’Brien Lifehouse, Sydney Medical School, Camperdown, NSW, 2006, Australia

    Martin H. N. Tattersall

  6. The Familial Cancer Service, Crown Princess Mary Cancer Centre, Westmead, NSW, 2145, Australia

    Judy Kirk

  7. Oncogenetics, The Institute of Cancer Research, London, UK

    Ros Eeles

  8. Medical Oncology Unit, University Hospital Southampton NHS Foundation Trust, Southampton, UK

    Emma Killick

  9. University of Hull, Kingston upon Hull, UK

    Leslie G. Walker

  10. Sir Peter MacCallum Dept. of Oncology, University of Melbourne, Parkville, VIC, Australia

    Gillian Mitchell

Authors
  1. Kate A. McBride
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Mandy L. Ballinger
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Timothy E. Schlub
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Mary-Anne Young
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Martin H. N. Tattersall
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Judy Kirk
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Ros Eeles
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Emma Killick
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Leslie G. Walker
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. Sue Shanley
    View author publications

    You can also search for this author in PubMed Google Scholar

  11. David M. Thomas
    View author publications

    You can also search for this author in PubMed Google Scholar

  12. Gillian Mitchell
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Kate A. McBride.

Electronic supplementary material

Below is the link to the electronic supplementary material.

Supplementary material 1 (DOC 811 KB)

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

McBride, K.A., Ballinger, M.L., Schlub, T.E. et al. Psychosocial morbidity in TP53 mutation carriers: is whole-body cancer screening beneficial?. Familial Cancer 16, 423–432 (2017). https://doi.org/10.1007/s10689-016-9964-7

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10689-016-9964-7

Keywords

Search

Navigation