Abstract: Breast cancer susceptibility gene 1（BRCA1） and breast cancer susceptibility gene 2（BRCA2） are the main genes associated with hereditary breast cancer. At present, BRCA1/2 germline mutations have been reported in the population, and the mutation types and frequencies vary greatly among different regions and races. Although most reports focus on Caucasians in Europe and the United States, there are also reports on the population mutation spectrum of Asia, Africa, South America and other regions. This study aims to review the biological function of BRCA1/2 and the global geographical distribution of breast cancer BRCA1/2 mutations, understand the relatively high frequency of BRCA1/2 mutations identified in specific ethnic or geographic groups, and provide information for effective gene search strategies in different regions.