Benefits and burdens of risk management for young people with inherited cancer: A focus on Li-Fraumeni syndrome

Abstract

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. 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. Thirty young people (mean age 25.5years) participated. Participants described intensive screening and risk-reducing mastectomy (for women) as their 'best shot' tocontrol their cancer risks with LFS. Engaging in theseoptions as a young person came with a slew ofpsychosocial implications. General practitioners may help to improve care for youngpeople with inherited cancer syndromes by acknowledging the benefits and complex burdens oftheir risk management.