Early breast cancer in young BRCA carriers: from diagnosis to treatment and survivorship.

Abstract

Breast cancer is the most frequent malignancy among young women, with unique challenges particularly for carriers of BRCA pathogenic or likely pathogenic variants (PVs). Among them, the indication for intensive surveillance and risk-reducing surgeries is critical. In addition, special considerations on systemic treatment should be considered, including the use of targeted treatments like poly (adenosine diphosphate (ADP)-ribose) polymerase inhibitors. Moreover, the impact of anticancer treatments and risk-reducing surgeries on their ovarian reserve, pregnancy wish, and breastfeeding is a crucial aspect to be considered. Proper management of long-term toxicities, such as bone and cardiovascular health, as well as menopause-related symptoms, requires proper multidisciplinary care to optimize quality of life. This review examines the biological, clinical, therapeutic, and survivorship implications of breast cancer in young BRCA carriers, emphasizing differences between carriers of PVs in the BRCA1 and BRCA2 genes. Personalized strategies integrating genetic counseling, tailored surveillance and survivorship programs, as well as innovative therapies, are essential for improving prognosis and well-being in these young patients. Multidisciplinary care and further academic research efforts are critical to improve the management of breast cancer in young BRCA carriers.