Abstract
Genetic testing is essential for understanding the onset of advanced cancer. Women who tested positive for a BRCA1/2 pathogenic variant experience changes in their everyday life, affecting their emotions, behaviors, and social relationships due to their “at risk” status. Moreover, a new sense of urgency arises when planning future decisions. This study aims to explore the psychological experiences of women who have undergone genetic testing through a qualitative thematic analysis. Nine Italian women who received BRCA1/2 risk information participated in this study. Semi-structured interviews were conducted by expert psycho-oncologists. All the data were collected online via a web conferencing platform, using both video and audio. Interviews explored two areas: the first focused on emotional changes following the genetic testing results and the second is focused on the changes in daily life and personal decisions. In the first area, two themes related to negative and positive emotions and their related eight sub-themes emerged. In the second area, two main themes related to personal and social changes, which were further divided into five sub-themes, were identified. Future studies could explore how to better address emotional and behavioral challenges faced by BRCA1/2 carriers, by providing adequate psychological support and improving doctor-patient communication. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s40359-025-03524-z.