Emotional distress and quality of life in high and moderate penetrance germline mutations carriers diagnosed with breast cancer: a preliminary study

Abstract

Background/Objectives. Genetic testing plays a critical role in breast cancer management by identifying individuals with high or moderate penetrance gene mutations. While clinical implications are well established, less is known about the psychological and quality-of-life impact of different genetic risk levels. This preliminary study aimed to explore whether breast cancer patients with high penetrance mutations experience different levels of distress compared to those with moderate penetrance mutations.

Methods. A total of 110 breast cancer patients treated at the Regina Maria Private Health Network in Cluj-Napoca, Romania, were included based on specific eligibility criteria. Participants completed a shortened version of the BREAST-Q questionnaire, focused on core dimensions such as emotional distress, self-concept, appearance, relationships, and financial burden. Descriptive statistics were calculated, and independent t-tests were performed to compare responses between the two genetic risk groups.

Results. Patients with high penetrance mutations reported significantly higher distress levels in several domains, including overall emotional distress (p = 0.039), concern for daughters or relatives (p = 0.043), changes in appearance (p = 0.038), and self-concept (p = 0.043). Other factors, such as fear of diagnosis, financial burden, and impact on sexuality, did not show statistically significant differences between groups.

Conclusions. This preliminary study suggests that genetic risk classification may influence the psychosocial experience of breast cancer patients, with high penetrance mutation carriers experiencing greater distress in specific areas. These findings highlight the need for personalized psychosocial support based on genetic profiles and warrant further investigation in larger, longitudinal cohorts.