Abstract
Multigene panel testing for hereditary breast cancer predisposition can be a useful tool to inform decisions around cancer screening, risk reducing surgeries, and chemo-preventative measures. In addition to well defined high-penetrance genes such as BRCA1 and BRCA2, these panels often include moderate-penetrance cancer predisposition genes such as ATM and CHEK2, which are associated with a moderate increase in breast cancer risk. However, unlike BRCA1 and BRCA2, the impact of screening, risk reducing surgeries, and the spectrum of cancer risks associated with likely pathogenic or pathogenic (LP/P) variants in ATM and CHEK2 remain unclear. In addition, the psychological impact of genetic testing for LP/P variants in ATM and CHEK2 is not fully understood in the current literature. The purpose of this exploratory study was to better understand the experiences of those with LP/P variants in ATM and CHEK2. Ten participants with LP/P germline variants in ATM or CHEK2 were recruited through online support groups and semi-structured phone interviews were conducted. Thematic analysis of interview transcripts was performed using ATLAS.ti and four major themes were identified: (1) variability in reaction to results, (2) variability in perception of personal risk, (3) sources of information, and (4) risk management decision making. This study highlights the uncertainty associated with LP/P variants in ATM and CHEK2 and demonstrates the need for more accurate risk assessment, further risk management guidelines, and accessible patient resources.