[Hereditary genetic testing and its application in the diagnosis, treatment, and prevention of breast cancer].

Abstract

Aim: To formulate standardized recommendations for recognizing and managing the genetic risk of breast cancer, based on the latest scientific evidence and clinical experience.

Methods: The authors adapted international professional guidelines to local conditions, which were reviewed within the framework of the 5th Hungarian Breast Cancer Consensus Conference.

Results: The consensus document provides detailed guidance on the indications for genetic testing, the process of clinical genetic counseling, and hereditary genetic testing in breast cancer patients. Given their prevalence and importance, separate chapters address breast, ovarian, and other cancer risks in carriers of pathogenic or likely pathogenic BRCA1/2 variants, along with related screening, prevention, and management recommendations, including risk-reducing surgery, chemoprevention, and hormone replacement therapy. The consensus also covers risk assessment and management in carriers of other high-penetrance gene variants (CDH1, PALB2, PTEN, STK11, TP53), as well as the role of moderate-penetrance genes.

Conclusions: This consensus provides a unified professional framework for genetic risk assessment and management in national practice, supporting personalized patient care and contributing to the early detection and prevention of hereditary breast and ovarian cancer.