Mutation Characteristics And Clinical Study Of BRCA1/2 Gene In Breast Cancer

Objective:Through the detection of BRCA1/2 gene in 74 breast cancer patients,the mutation of BRCA1/2 gene and the difference between clinicopathological features of mutation and non-mutation were explored.Provides a certain clinical basis for breast cancer in gene diagnosis and individualized treatment.Methods:Collected 74 cases of pathologically confirmed breast cancer patients at the First Affiliated Hospital of Nanchang University from May 2015 to May 2016.The basic clinical and pathological data were recorded.At the same time,5 ml of peripheral venous blood was collected to extract genomic DNA and its BRCAI was extracted.The entire coding sequence of the /2 gene was amplified and sequenced,and the final mutation results were compared with the database to obtain the BRCA gene mutation in breast cancer patients.Fisher's exact test or chi-square test was used to compare the clinical characteristics of the mutant and non-mutant.Results:1.A total of 11 gene mutations were detected in 74 samples of breast cancer patients examined,accounting for 14.86%(11/74)of all sequenced samples.Among them,6 were BRCA1 mutations,accounting for 8.11%(6/74)of the tested samples,and 5 were BRCA2 mutations,accounting for 6.76%(5/74)of all sequencing samples.2.Seventy-four breast cancer patients had 7 cases of familial breast cancer,accounting for 9.46%,which was close to the foreign level(9.2%)and higher than the current domestic reports(4.42% and 5.52%).3.The mutation rate of BRCA1/2 in familial breast cancer patients was significantly higher in 74 breast cancer patients than in sporadic breast cancer patients(57.14% vs 8.96%).The final result is meaningful.4.In this study,there were 14 unexplained mutations in 63 patients who did not carry pathogenic mutations,all of which were attributed to susceptibility to benign mutations.Two patients had rs138663409 mutations in the RECQL gene.5.Among the 74 breast cancer patients,the BRCA1/2 gene mutation had a higher premenopausal rate(81.8% VS 50.8%)than the BRCA1/2 gene mutation,and the incidence of a grade I tumor(45.5% VS 28.6%),CerbB2 protein negative expression rate(81.8% VS 63.5%),the incidence of triple negative breast cancer(54.5% VS25.4%).There was a lower rate of axillary lymph node metastasis(27.3% VS 49.2%),but there is no difference between the results6.Gene mutation group and the non-mutation group of breast cancer patients in the age distribution(X2=0.505,p=0.918),menopausal status(X2=2.50,p=0.11),tumor size(X2=1.78,p=0.18),histological grade(X2=2.27,p=0.32),axillary lymph node metastasis rate(X2=1.03,p=0.31),ER(X2=0.27,p=0.61),CerbB2(X2=0.70,p=0.40),Ki67(X2=0.16,p=0.69),molecule Genotyping(X2=1.63,p=0.20),clinical stage(X2=0.53,p=0.77)and see the end difference.Conclusion:1.The mutation rate of BRCA1/2 gene in breast cancer patients in Jiangxi province is higher than that in foreign countries.Among them,BRCA1 gene is more susceptible to mutation than BRCA2 gene,which is consistent with that at home and abroad.2.There was a significant difference in BRCA1/2 gene mutation between familial breast cancer patients and sporadic breast cancer patients.3.A large number of unexplained mutations were found in this experiment.Whether these mutations are related to the treatment of breast cancer remains to be further investigated.4.The rate of Ki67 expression and triple negative breast cancer in breast cancer patients carrying the BRCA1/2 gene mutation was higher,but the incidence of lower menopause and axillary lymph node metastasis,histological grade,and clinical stage were even lower.