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目的:探讨广西地区散发性乳腺癌BRCA1基因的突变情况,及其与乳腺癌的临床、组织病理特征。方法:采用PCR联合基因直接测序法检测广西地区235例乳腺癌患者(包括155例汉族及80例壮族乳腺癌患者)BRCA1基因的突变情况,同时采用免疫组化方法检测乳腺癌组织中ER、PR及CerbB-2的表达情况。结果:①235例乳腺癌患者BRCA1突变率为8.5%(20/235);其中汉族与壮族乳腺癌患者BRCA1突变率分别为7.1%(11/155)、11.3%(9/80),两者比较差异无统计学意义(χ2=1.169,P=0.280)。②20例BRCA1突变乳腺癌中CerbB-2阴性表达率为65.0%,三阴性乳腺癌(TNBC)检出率为35.0%;而无BRCA1突变乳腺癌中CerbB-2阴性表达率为30.0%,TNBC检出率为14.8%,两组比较CerbB-2阴性表达率及TNBC检出率差异有统计学意义(χ2=10.031,P=0.002;χ2=4.018,P=0.045)。结论:广西地区散发性乳腺癌BRCA1基因突变率相对较低,汉族与壮族乳腺癌患者BRCA1突变率无明显差异;BRCA1突变乳腺癌CerbB-2阴性表达率高,与三阴性乳腺癌关系密切,提示预后可能较差。
Objective: To investigate the mutation of BRCA1 gene in sporadic breast cancer in Guangxi and its clinicopathological and histopathological features. Methods: The mutation of BRCA1 gene in 235 cases of breast cancer in Guangxi (including 155 cases of Han nationality and 80 cases of Zhuang nationality breast cancer) was detected by PCR combined with direct sequencing. Meanwhile, the expression of ER, PR And CerbB-2 expression. Results: ①The mutation rate of BRCA1 was 8.5% (20/235) in 235 cases of breast cancer. The mutation rates of BRCA1 in Han and Zhuang women were 7.1% (11/155) and 11.3% (9/80), respectively The difference was not statistically significant (χ2 = 1.169, P = 0.280). (2) The positive rate of CerbB-2 in 20 cases of breast cancer with BRCA1 mutation was 65.0% and that of triple negative breast cancer (TNBC) was 35.0%. The negative rate of CerbB-2 in breast cancer without BRCA1 was 30.0% The positive rate of CerbB-2 and TNBC in the two groups were statistically significant (χ2 = 10.031, P = 0.002; χ2 = 4.018, P = 0.045). Conclusion: The mutation rate of BRCA1 gene in sporadic breast cancer in Guangxi is relatively low, while there is no significant difference in the mutation rate of BRCA1 between Han and Zhuang women. The positive rate of CerbB-2 in BRCA1 mutant breast cancer is high, which is closely related to triple negative breast cancer Prognosis may be poor.