Abstract: Breast cancer susceptibility gene 1/2 (BRCA1/2) are important tumor-suppressor genes. Germline BRCA1/2 mutation (gBRCA1/2m) carriers have a significantly increased risk of breast, ovarian, and prostate cancer and other malignancies. In recent years, the popularization of next-generation sequencing technology and the development of targeted drugs have led to changes in the diagnosis and treatment of breast cancer patients with gBRCA1/2m. This article reviews the latest progress in research on gBRCA1/2m-related breast cancer from the perspective of clinical characteristics, the standardization of genetic testing, surgical treatment, chemotherapy, and targeted therapy, to provide evidence for the clinical diagnosis and treatment of breast cancer patients with gBRCA1/2m.