BRCA1 gene mutations in human breast banker

Objective breast cancer susceptibility genes (BRCA1 gene) is a tumor suppressor gene. This study in the detection of breast cancer in BRCA1 gene mutations, BRCA1 gene mutation and explore the relationship between breast cancer. Methods were 89 cases of breast cancer patients for the experimental group and the other from non-cancerous breast tissue samples from 30 patients with a control group. each specimen were broken up, respectively phenol - chloroform extraction method of DNA extraction, each case of DNA by PCR amplification of the BRCA1 gene 2,5,17,20 4 exons. patients were each exon of each PCR amplification products SSCP analysis of the unusual zone of PCR products for DNA sequencing and gene sequence than on the analysis of mutation situation. results of 30 cases of non-cancerous breast tissue did not detect BRCA1 gene mutation, 89 cases of breast cancer were detected four cases of mutation, two cases of five exons of the missense mutation (273 C> G, 287A> T), 2 Cases of 17 exons of the missense mutation (5115 T> C, 5116A> G). BRCA1 breast cancer gene mutation rate was 4.5% (4 / 89). conclusions BRCA1 mutations and breast cancer, testing for BRCA1 gene mutation prevalence of breast cancer risk assessment and early diagnosis is of great significance.