Identification of BRCA1 and BRCA2 mutations from Korean breast cancer patients using denaturing HPLC

In order to investigate the presence and function of BRCA mutations in Korean breast cancer patients, mutational analyses using denaturing HPLC (DHPLC) were performed for 1020 breast cancer patients and 167 normal females. We identified 14 deleterious mutations that included 10 frameshift mutations and 4 nonsense mutations. Among these 14 mutations, we found 3 novel BRCA1 and 3 novel BRCA2 mutations. We found that BRCA deleterious mutations were present in 19 of the 1020 patients (1.8%). Three of the 14 deleterious mutations were detected in 7 of these 19 patients. The three mutations were also identified in other studies for BRCA mutations in the Korean population, suggesting that they are possible founder mutations of BRCA for the Korean population. We plan to provide fundamental data for larger population-based studies to establish the frequency and significance of BRCA mutations in Korean breast cancer patients.