Benefits and burdens of risk management for young people with inherited cancer: A focus on Li-Fraumeni syndrome
Rowan Forbes Shepherd, Louise Keogh, Allison Werner‐Lin, Martin B. Delatycki, Laura Forrest
Abstract
BACKGROUND AND OBJECTIVES: Discussing population-based cancer risk and screening is common in general practice. Patients with an inherited cancer syndrome, however, may need more nuanced discussions. Li-Fraumeni syndrome (LFS) is a rare, inherited cancer syndrome that affects many organ systems from birth and requires intensive, whole-body cancer risk management. The aim of this study was to explore the risk management experiences of young people (aged 15-39 years) with, or at risk of, LFS. METHOD: Using an interpretive description design, semi-structured interviews were conducted with young people diagnosed with, or at risk of, LFS from across Australia. Interview transcripts were analysed with team-based, codebook thematic analysis. RESULTS: Thirty young people (mean age 25.5 years) participated. Participants described intensive screening and risk-reducing mastectomy (for women) as their 'best shot' to control their cancer risks with LFS. Engaging in these options as a young person came with a slew of psychosocial implications. DISCUSSION: General practitioners may help to improve care for young people with inherited cancer syndromes by acknowledging the benefits and complex burdens of their risk management.