Abstract 3473: Psychosocial functioning in research participants at enrollment in a Li-Fraumeni syndrome study
Authors: Loud Jennifer T. , Bremer Renee C. , Decastro Rosamma , Peters June A. , Mai Phuong L. , Savage Sharon A. 
Published: July 2016

Background: Li Fraumeni Syndrome (LFS) is an autosomal dominant cancer predisposition syndrome in which about 90% of individuals develop cancer by age 60. Approximately 70% of individuals with LFS have germline TP53 mutation. We hypothesized that this high level of cancer risk may be associated with increased emotional distress, cancer risk perceptions and cancer worry in individuals from LFS families.

Methods: Data from 276 adult (≥18 years old) TP53 mutation carriers (TP53+), mutation negative (TP53-) and untested (UT) participants enrolled in an IRB-approved study at the Clinical Genetics Branch, NCI were obtained between January 2011 and June 2014.. Using questionnaires at baseline, we assessed emotional distress (global distress, somatization, anxiety and depression) as measured by the BSI-18, cancer risk perceptions (comparative: scores 1-5; 1 = much less than other people your age to 5 = much more than other people your age and absolute: 10-point scale; 1 = no chance; 5 = may or may not; 10 = almost certainly) and cancer worry scales (frequency of cancer thoughts, interference with mood and daily activity, scores 1-4; = not at all or rarely to 4 = several times a day).

Results: TP53+ estimated their comparative lifetime risk of cancer as higher than TP53- and UT; [4.9 (SD = 0.5) vs. 3.8 (SD = 1) and 3.2 (SD = 1.3) p&lt;0.01], respectively]. TP53+ also estimated their absolute cancer risk as significantly higher than TP53- and UT on a [8.6(SD = 1.5) vs. 6.3 (SD = 1.6) and 5.7 (SD = 2.1), p&lt;0.01].Cancer worry was higher in TP53+ than TP53-or UT. TP53+ also indicated they thought about their cancer risk more frequently thanTP53- and UT [2.3 (SD = 0.9) vs. 1.3 (0.6) and 1.3 (SD = 0.6), p&lt;0.01]. There was a small but statistically significant difference between TP53+, TP53- and UT in their appraisal of whether cancer worry affected their mood over the past month [1.6 (SD = 0.6) vs. 1.2 (SD = 0.6) and 1.1 (SD = 0.2), p = &lt;0.01] and whether thoughts of cancer affected their ability to perform daily activities [1.2 (SD = 0) vs. 1.1 (SD = 0.4) and 1 (SD = 0.2), p = &lt;0.01]. No statistically significant differences were observed on measures of emotional distress between TP53+, TP53- or UT somatization [46.7 (SD = 8.1) vs. 45.9 (SD = 9.3) and 45.9 (SD = 7.6); depression [50.1 (SD 9.7) vs. 49.6 (SD - 9.3) and 45.9 (SD = 7.6); anxiety [48.2 (SD = 9.1) vs. 45.4 (SD = 9.7) and 45.8 (SD = 7.9) or global distress [47.9(SD = 9.9); vs. 45.1(12.1) and 44.9 (SD = 9.5)].

Conclusions: Participants in the LFSS do not demonstrate high levels of emotional distress. TP53+ appropriately identify their comparative and absolute cancer risk as high, but have levels of cancer worry that appears to be only slightly affecting their mood or ability to perform daily activities. Future research will focus on longitudinal changes in risk perception, cancer worry and emotional well-being while enrolled in a cancer screening study.

Citation Format: Jennifer T. Loud, Renee C. Bremer, Rosamma Decastro, June A. Peters, Phuong L. Mai, Sharon A. Savage. Psychosocial functioning in research participants at enrollment in a Li-Fraumeni syndrome study. [abstract]. In: Proceedings of the 107th Annual Meeting of the American Association for Cancer Research; 2016 Apr 16-20; New Orleans, LA. Philadelphia (PA): AACR; Cancer Res 2016;76(14 Suppl):Abstract nr 3473.