Study On BRCA1/2 Gene Mutations In Female Breast Cancer Patients In Yuxi Area

Objective:The purpose of this study is to screen and analyze the Breast Cancer1/2?BRCA1/2?single nucleotide polymorphic?SNP?site mutations of different types of female breast cancer patients in Yuxi area of Yunnan Province,China,through the technology of Next-Generation Sequencing?NGS?,and to screen out the pathogenic mutation sites of different types of breast cancer in this area.Methods:93 female patients with breast cancer diagnosed by breast surgery in Yuxi people's Hospital of Yunnan Province were selected.The age ranged from 29 to 74 years,and the median age was 47 years.According to the pathological types,66 cases of simple invasive breast cancer and 27 cases of mixed breast cancer were classified.There were 12 cases of triple negative breast cancer and 81 cases of non triple negative breast cancer.The mutation frequency,mutation type,mutation amino acid,mutation base,mutation frequency of exon and heterozygosity and homozygosity of individual gene of BRCA1/2 gene were analyzed by using ngs technology.The mutation differences of sites in different types of breast cancer were compared and the common mutation sites were screened.The clinical significance of mutations was analyzed by comparing gene databases?exac,gnomad,and thousand human genome databases?,and the mutations that may cause different types of breast cancer in this region were screened out.Results:Classification of simple invasive and mixed breast cancer:?1?The BRCA1 gene of simple invasive breast cancer detected 13 mutation sites,including one mutation site with unclear clinical significance?RS770090143?c.1148A>G??.Ten mutation sites and one pathogenic mutation site?RS80357973?c.5470₅477delATTGGGCA??were detected in the BRCA1 gene of mixed breast cancer.There were 8 common benign mutation sites in BRCA1 gene of simple invasive and mixed breast cancer,and the mutation frequency of common site was significantly different from that of the general population?p<0.05?.?2?The BRCA2 gene of invasive breast cancer alone detected 28 mutation sites,including one mutation site with unclear clinical significance?RS397507971?c.8258₈260delTTC??.The BRCA2 gene of mixed breast cancer detected 20 mutation sites,including one mutation site with unclear clinical significance?RS746472081?c.4307T>C??.There were 9 common benign mutation sites in BRCA2 gene of simple invasive and mixed breast cancer,and the mutation frequency of common site was significantly different from that of the general population?p<0.05?.Non-triple-negative and triple-negative breast cancer classification:?1?14 mutation sites were detected in the BRCA1 gene of non-triple-negative breast cancer,including one mutation site with unclear clinical significance?RS770090143?c.1148A>G??.The BRCA1 gene of triple-negative breast cancer detected 11 mutation sites,including a pathogenic mutation site?RS80357973?c.5470₅477delATTGGCA??,which may have a predictive effect on clinical efficacy.There were 10.common benign mutation sites in BRCA1 gene of non-triple-negative and triple-negative breast cancer,and the mutation frequency of common site was significantly different from that of the general population?p<0.05?.?3?Thirty-one mutation sites were detected in BRCA2 gene of non-triple negative breast cancer,including two mutation sites with unclear clinical significance?RS397507971?c.8258₈260de1TTC?,RS746472081?c.4307T>C??.Fourteen mutation sites were detected in triple-negative breast cancer.There were 9 common benign mutation sites in BRCA2 gene of non-triple-negative and triple-negative breast cancer,and the mutation frequency of common site was significantly different from that of the general population?p<0.05?.Simple invasive and mixed breast cancer compared with non-triple-negative and triple-negative breast cancer:two types of breast cancer have four mutation sites with unclear clinical significance?RS144848,RS766173,RS1801426,RS80359065?,among which RS144848,RS766173 have the highest mutation frequency in both types.Conclusion:1.BRCA1 gene screened 1 mutation site with unclear clinical significance?RS770090143?c.1148A>G??and 1 pathogenic mutation site?RS80357973?c.5470₅477delATTGGCA??which may have a predictive effect on clinical efficacy.2.BRCA2 gene screened out 2 mutation sites with unclear clinical significance?RS397507971?c.8258₈260delTTC?,RS746472081?c.4307T>C??.