Yanbian Region Of Brca1 Mutation Analysis

OBJECTIVE: To explore the condition of breast cancer susceptibility gene 1 (BRCA1) mutation in breast cancer patients of Yan-bian area and the applied prospect in the clinical diagnosis and therapy of breast cancer. METHODS: The mutations of exon 2 and 20 of BRCAl were screened by the polymerase chain reaction(PCR) and single-strand conformation polymorphism (SSCP) anlysis. Cases showing abnormal band-shift in SSCP were subsequently confirmed by the direct sequencing to detect the mutational condition of 23 sporadic breast cancer and 8 benign tumor patients. RESULTS: Abnormal band-shift were not found on the two exons in the BRCA1 of 8 benign tumor patients and also were not found on exon 20 in the 23 sporadic breast cancer patients, but the mutations were confirmed by sequencing in 2 cases which were showed abnormal band-shift on exon 2; one formed frame shift mutation because of inserting "C" between the sites of 105 and 106, the other formed missense mutation because of the mismatching of G-C in the site of 176. The mutational rate of BRCAl is about 9% in "breast cancer patients. Both of the two cases happened on exon 2, and the average ages of mutational patients(43.5) were 9 years lower than that of 23 breast cancer patients(52.3). CONCLUSION: The mutations of BRCAl are involved in carcinogenesis and development of sporadic breast cancer, the rate of mutation is about 9% and consistent with 7% ～ 10% of domestic report, but the mutational site concentrated on exon2, it might be typical here. The choice of treatment perscription and the decision of prognosis in breast cancer patients.