Date of Award

Spring 2020

Document Type

Open Access Thesis


Genetic Counseling

First Advisor

Whitney Dobek


Individuals undergoing Li-Fraumeni syndrome (LFS) tumor surveillance are known to experience a significant psychosocial burden due to financial, emotional and logistical stresses. This study aims to increase understanding of the psychosocial impact of LFS tumor surveillance on both individuals with an LFS diagnosis and non-mutation carrier family members, expecting that both populations would experience similar burdens, to determine if there is an unmet need for support resources. We performed a mixed-methods study consisting of an online survey completed by 94 individuals with an LFS diagnosis and 29 non-mutation carrier family members and semi-structured phone interviews with 13 survey participant consisting of both mutation carriers (n = 9) and non-mutation carrier family members (n = 4). Regarding LFS-related support resources, only 20.7% of non-mutation carrier family member indicating utilizing online or in-person support groups and 51.7% reported desiring access to this resource, suggesting an unmet need in this population. When asked about top reasons for non-adherence to recommended LFS tumor surveillance, mutation carriers cited cost/insurance coverage and emotional/psychological reasons. Both groups had mean general anxiety (GAD-7) and cancer/tumor surveillance-related distress (IES-6) scores that were not statistically significantly different (GAD7: p = .704, IES-6: p = .288). A statistically significant moderate positive correlation was identified between IES-6 scores and the number of years the participant or their family member has been undergoing LFS tumor surveillance (p = .001). A factor that led to statistically significant decreases in both GAD-7 and IES-6 v scores was higher satisfaction with the amount of LFS-related support resources utilized (GAD-7: p = .038, IES-6: p = .028). A factor that led to a statistically significant decrease in IES-6 scores was the perception that LFS tumor surveillance is effective (IES-6: p =.030). Several themes emerged from interviews, most notably related to attitudes toward support resources, coping styles, and communication with family and friends. This study identified factors associated with LFS tumor surveillance that may guide healthcare providers in better managing their patients and family members using available support resources and knowledge of perceived barriers and drawbacks to tumor surveillance.


© 2020, Emily Anne Berenson