BRCA mutations and clinical pathological features of 30 patients with high-risk triple negative breast cancer in Xinjiang Uygur Autonomous / 肿瘤研究与临床

ABSTRACT

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.