Mutation Of BRCA1 And BRCA2 Genes In Sporadic Breast Cancer Patients In Southern Anhui Province

Introduction:This study was designed to investigate the differences between BRCA1 and BRCA2 single nucleotide polymorphisms(SNPs)in sporadic breast cancer patients in southern Anhui,and to explore the frequency of BRCA1 and BRCA2 mutations in sporadic breast cancer patients in southern Anhui province.And its relationship with clinicopathological parameters and susceptibility to tumor.Methods:Ninety-four patients with sporadic breast cancer were selected as case group and 60 healthy women as control group.Peripheral blood samples were collected from all patients and control group.The clinicopathological data of 94 patients with breast cancer were collected,including age of onset,histopathological features,immunohistochemical features,menstrual history,family history of tumor,and so on.The rs16941 locus of BRCA1 gene and the rs1799943,rs766173,rs1801499 locus of BRCA2 gene were directly sequenced by DNA in the both groups.Results: Dna sequencing was performed in 94 breast cancer patients and 60 healthy controls.1 The mutation frequency of SNP rs16941 and SNP rs766173 in breast cancer patients and healthy controls was significantly different from that of control group(P=0.04,P=0.045).There was no significant difference in mutation frequency of snp rs1799943 snp rs1801499 between breast cancer patients and healthy controls(P=0.409,P=0.388).2 The distribution TT?TG gene type of SNP rs766173 in breast cancer patients and healthy controls was significantly different(P=0.035).There was no significant difference in the distribution AA?AG?GG genotype of SNP rs16941 between breast cancer patients and healthy controls..The same results of TT?TC genotype of rs1799943 and TT?TC genotype of rs1801499.There was no significant difference in the distribution rs1799943.rs1801499 between breast cancer patients and healthy controls(P=1.157,P=0.045,P=0.711,P=0.509).3Breast cancer(with diagnostic age less than 40 years old as the limit)accounted for 14.9%,and 80 cases over 40 years old,accounting for 85.1% cases.The mutation rates of rs16941,rs766173,rs1801499 in early-onset breast cancer and those with middle onset age over 40 years were significantly different(P<0.01?P<0.01?P=0.02)).There was no significant difference in the mutation rate of rs1799943 between early-onset breast cancer and breast cancer over 40 years old.4 There was no significant difference in the mutation rate of rs16941 ? rs1799943 ? rs766173 and rs1801499 in frequency between menopausal and unmenopausal patients(P=0.251,P=0.294,P=0.502,P=0.857).5 The frequency of snp rs16941,rs766173,rs1801499 was significantly different between ER negative and ER positive breast cancer patients(P<0.01,P<0.01,P=0.049)and there was no significant difference in the frequency of rs766173 between ER negative and ER positive breast cancer patients(P=1.140).The frequency of snp rs16941,rs766173,rs1801499 was significantly different between PR negative and PR positive breast cancer patients(P<0.01,P<0.01,P<0.01)and there was no significant difference in the frequency of rs766173 between PR negative and PR positive breast cancer patients(P=0.788).The frequency of snp rs16941,rs766173,rs1801499 was significantly different between tri-negative and non-tri-negative breast cancer(P<0.01,P<0.01,P<0.01)and there was no significant difference in the frequency of rs766173 between tri-negative and non-tri-negative breast cancer(P=0.791).6 There was no significant difference in the frequency of rs16941?rs 1799943?rs766173 and rs1801499 in mutation frequencies among patients with grade I,grade II and grade III.Conclusion: Rs16941 of BRCA1 and rs766173 of BRCA2 can increase the risk of sporadic breast cancer in southern Anhui Province;The association of rs766173 polymorphism with the risk of sporadic breast cancer in southern Anhui;The younger age of onset may increase the mutation of rs16941 ? rs766173 and rs1801499.The expression of ER and PR may be a protective factor for the mutations of rs16941 of BRCA1 and rs766173?rs1801499 of BRCA2.Rs16941,rs766173 and rs1801499 locus has high mutation rate in TNBC.