Mutations detection of EMSY gene in sporadic breast cancer with PCR-SSCP

Abstract

Objective To get the message of mutatian information of EMSY gene in sporadic breast carcinoma tissues, then investigate the association of EMSY gene mutation and sporadic breast carcinoma disease. Methods Tissue from 72 sporadic breast carcinoma patients and 18 optimum breast tumor patients, being extracted DNA with phenol and chloroform, polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) was used toamplify 20 exons of EMSY and analyze the conformation polymorphism. Results Among the 72 cases of sporadic breast carcinoma specimens and 18 cases of optimum breast tumor specimens, there were 6 breast carcinoma specimens, which the exon 9 have conformation change in single stranded. The sequencing result was confirmed loss of heterozygosity (LOH) and the deletion was A of GCA. The mutation rate was 8.3%. Conclusions The study of this subject shows that it has EMSY gene mutation in Guangxi sporadic breast cancer, and the rate is higher than optimum breast tumor. Key words: Breast cancer ; Mutation ; Poymerase chain reaction-single strand conformation poly-morphism ; EMSY gene ;