三阴性乳腺癌患者BRCA1/2基因突变检测临床意义分析  

Clinical significance of BRCA1/2 mutations testing in triple-negative breast cancer patients

作　　者：李涌涛[1] 杨亮[1] 赵倩[1] 欧江华[1] 

机构地区：[1]新疆医科大学附属肿瘤医院乳腺外科,新疆乌鲁木齐830011

出　　处：《中华肿瘤防治杂志》2014年第22期1812-1815,共4页Chinese Journal of Cancer Prevention and Treatment

摘　　要：目的分析在新疆多民族地区三阴性乳腺癌(triple negative breast cancer,TNBC)患者BRCA1/2基因突变检测的意义。方法在新疆医科大学附属肿瘤医院2005-01-01-2013-09-30接受手术治疗的乳腺癌患者中,选择一定人群进行BRCA突变检测,其中TNBC患者69例。通过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。采用变性高效液相色谱法(denaturing high performance liquid chromatography,DHPLC)进行BRCA1/2基因的所有编码外显子及其邻近的内含子剪接区域突变分析预筛,DNA测序验证结果。结果 69例患者,14例(20.3%)出现BRCA1/2突变,其中BRCA1突变10例(14.5%),BRCA2突变4例(5.8%)。去除有家族史及双侧原发性乳腺癌患者后,41例单纯TNBC患者中BRCA1/2突变7例(17.1%),突变的患者均为绝经前患者。结论在新疆多民族地区进行BRCA1和BRCA2基因突变检测筛查乳腺癌高危人群中,TNBC是一个备选人群;选择绝经前TNBC患者,建议先进行BRCA1的检测。OBJECTIVE To analyse the clinical significance of BRCA mutation in triple negative breast cancer（TN- BC） in Xinjiang multiple ethnic region. METHODS We chose a certain populations who were diagnosed with invasive breast cancer treated with operation to test BRCA mutation in Affiliated Cancer Hospital, Xinjiang Medical University from 2005-01-01 to 2013-09-30. Of them, 69 were triplemegative invasive breast cancer. Genomic DNA extracted from peripheral venous blood of patients, all of the coding sequence of BRCA1/2 gene was amplified. All coding exons of the BRCA1/2 gene and its splice adjacent region to intron screening were performed by PCR-DHPLC sequencing analysis. All mutations were confirmed with direct sequencing. RESULTS The prevalence of BRCA1/2 germline mutation was about 20.3% （14/69）. BRCA1 mutation prevalence was about 14.5% （10/69）,BRCA2 mutation prevalence was about 5.8% （4/69）. Removing these patients had a family history and bilateral primary breast cancer, 41 patients were unselected TNBC, BRCA1/2 mutation prevalence was 17. 1% （7/41）, and all mutations in 7 individuals were premenopausal pa- tients. CONCLUSION Women with TNBC are candidates for BRCA1/2 testing in multi-ethnic Xinjiang region.

关 键 词：BRCAL BRCA2 乳腺肿瘤 基因突变 

分 类 号：R737.9[医药卫生—肿瘤]