Psychological support for carriers of mutations in genes associated with hereditary breast cancer

Relevance. Informing patients about the carriage of a pathogenic mutation may result in a psychologically traumatizing situation, characterized by acute stress reactions, post-traumatic stress disorder symptoms, or anxiety-depressive disorder. This highlights the importance of psychological counseling.Objective. To investigate the effectiveness of psychological support in a patient with mutations in genes associated with hereditary breast cancer.Materials and methods. Description of patient's medical history and results of instrumental psychological diagnosis after identifying a pathogenic mutation in the CHEK2 gene, which increases a risk of developing breast cancer to 20–40 % via genetic testing.Results. The nature of emotional response in this case is determined by personal history — identification of ideas about one's possible disease with mother's one. The conducted psychological consultations mitigated acute stress reactions and minimized the perception of received genetic information as a psychologically traumatic event. Furthermore, significant positive shifts were observed in the formation of adaptive stresscoping strategies, awareness of one's own mental resources, and reinforcement of adherence to the dynamic observation plan.Conclusion: Patients in situations involving the identification of mutations in genes associated with hereditary breast cancer require a personalized approach. Development of criteria for psychological support should be aimed at improving patients' quality of life not only in the immediate aftermath of information disclosure but also in the long term.