RESUMO
Objective Knowing the BRCA gene mutational condition of high risk triple negative breast cancer (TNBC) in Xinjiang Uygur Autonomous and acquiring the differences of clinical and pathologic characteristics between person with BRCA gene mutation and person without it by means of BRCA gene mutation testing for 30 cases of TNBC in Xinjiang Uygur Autonomous.Methods The objects of this study were 30 cases of high risk TNBC from Xinjiang.All the coded sequences of BRCA1/2 gene were amplified by means of extracting genomic DNA from peripheral venous blood.BRCA1/2 gene mutation analysis were prescreened through DHPLC.Then,the result was verified by DNA sequencing.The clinical and pathologic characteristics between person with BRCA gene mutation and person without it of 30 high risk TNBC cases were contrastively analysed.Results In all the 30 cases of BRCA gene mutation testing for TNBC in Xinjiang Uygur Autonomous,there were 5 cases of pathogenic mutations of BRCA gene (5/30,16.7 ％); 4 cases of BRCA 1 mutation (4/30,13.3 ％); 1 case of BRCA 2 mutation (1/30,3.3 ％); and there was no mutation to be found in 25 cases of BRCA gene of TNBC (25/30,83.3 ％).As compared with person without gene mutation,who with it had the characteristics of earlier of TNM,the difference was statistically significant (P =0.040).Conclusion Since the rate of BRCA1 gene mutation of high risk TNBC is higher.It is suggested that the BRCA gene of every patients with high risk TNBC should be tested.Comparing with person with BRCA gene mutation and person without it,there might have differences on clinical pathological characteristics features.Therefor,individualized treatment should be taken into consideration.
RESUMO
PURPOSE: The aim of this study is to further understand the status of BRCA1 and BRCA2 mutation among Chinese high-risk breast cancer patients in multiple-ethnic regions of China. METHODS: A total of 79 blood samples of high-risk breast cancer patients from Xinjiang Uyghur autonomous region were analyzed by PCR-DHPLC sequencing analysis. RESULTS: Analysis with full length of the two genes identified a total of 6 deleterious mutations (2073delA, 2394C-T [Q759X] and IVS16+1G>A in BRCA1; 1627A-T [K467X], 6873delCTCC and 9481delA in BRCA2) in this cohort. The prevalence of BRCA1/2 germline mutation was about 7.6% (6/79) in the Xinjiang multiple ethnic region of China. Among them, 3 novel deleterious mutations, 2073delA in BRCA1 (Han ethnic Chinese) and BRCA2 variants 6873delCTCC and 9481delA (both are Kazakh ethnic Chinese), were identified and they had never been reported in breast cancer information core (BIC) database before. 2394C-T (Q759X) and IVS16+1G>A, in BRCA1 and BRCA2 variants 1627A-T were previously reported in other populations but not Chinese. Among 6 of the BRCA-related tumors, three BRCA1- and one BRCA2-associated tumors were in triple negative (estrogen receptor, progesterone receptor, and HER2 negative expressed) status and exhibited a high tumor grade. So far none of these 6 deleterious mutations were reported in ethnic Han Chinese. CONCLUSION: BRCA germline mutation in Chinese multiple ethnicity region may exhibit different genotypes compared to ethnic Han Chinese in other regions. These differences may arise from interaction of genetic background and environmental factors.