CAJ | 학술논문

目的了解新疆维吾尔自治区高风险三阴性乳腺癌(TNBC)BRCA基因突变情况及BRCA基因突变者与未突变者临床病理特征的差异.方法以新疆维吾尔自治区30例符合高风险TNBC标准的患者为研究对象,抽取外周静脉血,提取基因组DNA,对BRCA1/2基因的全部编码序列进行扩增.变性高效液相色谱分析(DHPLC)预筛BRCA1/2基因突变,经DNA测序证实.对比分析BRCA突变者与未突变者的临床病理特征.结果 30例患者中,5例(16.7％)BRCA基因发生致病性突变,其中BRCA1突变4例(13.3％),BRCA2突变1例(3.3％);25例(83.3％)未发现BRCA基因突变.突变者与未突变者相比,临床病理分期早,差异有统计学意义(P=0.040).结论新疆维吾尔自治区高风险TNBC BRCA1基因突变率高,对于高风险TNBC患者建议进行BRCA基因检测;高风险TNBC BRCA基因突变者与未突变者相比,可能在临床病理特征方面存在差异,应考虑个体化治疗.
목적 료해신강유오이자치구고풍험삼음성유선암(TNBC)BRCA기인돌변정황급BRCA기인돌변자여미돌변자림상병리특정적차이.방법 이신강유오이자치구30례부합고풍험TNBC표준적환자위연구대상,추취외주정맥혈,제취기인조DNA,대BRCA1/2기인적전부편마서렬진행확증.변성고효액상색보분석(DHPLC)예사BRCA1/2기인돌변,경DNA측서증실.대비분석BRCA돌변자여미돌변자적림상병리특정.결과 30례환자중,5례(16.7％)BRCA기인발생치병성돌변,기중BRCA1돌변4례(13.3％),BRCA2돌변1례(3.3％);25례(83.3％)미발현BRCA기인돌변.돌변자여미돌변자상비,림상병리분기조,차이유통계학의의(P=0.040).결론 신강유오이자치구고풍험TNBC BRCA1기인돌변솔고,대우고풍험TNBC환자건의진행BRCA기인검측;고풍험TNBC BRCA기인돌변자여미돌변자상비,가능재림상병리특정방면존재차이,응고필개체화치료.
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.