BRCA1 Gene Mutations And Estrogen Receptors In Human Breast Cancer

Objective: To study the role of the hereditary breast and orarian cancer susceptibiliry gene(BRCAl) mutation and estrogen receptor(ER) in breast cancer and study the relationship between BRCA1 and ER. Methods: 64 cases with breast cancer were studied group, breast tissues of 10 cases without cancer were controls. Fragments of exon2, 3, 5, 8, 10, 12, 13,14,15,16,17,18,19,20 and 21 of BRCA1 gene were amplified by PCR. Mutational screening was performed by single-strand conformation polymorphism analysis(SSCP), and alterations were confirmed by DNA sequencing. The estrogen receptors were detected by SP. The BRCA1 gene mutations in ER-positive group were compared with them in ER-negative group. Results: No mutation was identified in the controls. A total of 6 single nucleotide changes in BRCA1 were identified, all mutations were missense mutations, including 2 in exon 5 (273C>G, 287A>T), 1 in exon 12(4285G > A), 2 in exon 17(5115T > C, 5116A > G), 1 in exon 18(5206T > A) ;There were 44 cases with ER(+), only 1 case had BRCA1 mutation, but there 5 cases with BRCA1 mutation in ER(-) group(5/20). The difference was notable between the two groups. Conclusion: BRCA1 mutations is related to breast cancer in Guangxi. BRCA1 mutations have relation with...