Psychosocial morbidity in TP53 mutation carriers: is whole-body cancer screening beneficial?
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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.
KeywordsLi-Fraumeni syndrome TP53 Screening Hereditary cancer Psychosocial Mixed methods
- 4.Li FP, Fraumeni JF, Mulvihill JJ, et al. (1988) A cancer family syndrome in 24 kindreds. Cancer Research 48(18): 5358–5362Google 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 CrossRefPubMedGoogle 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 CounselingGoogle 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)Google Scholar
- 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)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, CAGoogle Scholar
- 23.Creswell JW (1994) Research design: Qualitative and quantitative approaches. Thousand Oaks, CAGoogle Scholar
- 24.Patton MQ (2002) Qualitative Research and evaluation methods. Sage, Thousand OaksGoogle 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
- 30.IBM Corp (2012) IBM SPSS Statistics for Windows, Version 21.0, IBM Corp., Armonk, NYGoogle 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