安徽医科大学学报Issue(3)：376-379,402,5.
新疆多民族地区三阴性乳腺癌BRCA1基因突变分析
BRCA1 mutations in patients with triple negative breast cancer in multi-ethnic region of Xinjiang
摘要
Abstract
Objective To analyze the prevalence of BRCA1 mutations in patients with triple negative breast cancer ( TNBC) in multi-ethnic region of Xinjiang and to discuss the difference of clinical and pathological features be-tween patients with BRCA1 gene mutation and without it. Methods BRCA1 mutations in 130 TNBC cases were detected by PCR-DNA sequencing. Genomic DNA was extracted from blood, and BRCA1 mutations were detected <br> by combined use of PCR and direct sequencing. Results The prevalence of BRCA1 mutations in 130 TNBC cases was 17. 7%(23/130). There was no statistically significant difference in prevalence of BRCA1 mutations between Han(20. 5%,17/83) and minority cases(12. 8%,6/47) (χ2 =1. 856,P=0. 869). There had been 23 cases of BRCA1 mutations with 19 loci in 130 cases of TNBC patients, 8 of which were new loci. 4 BRCA1 gene mutation"hot spots" were found. In addition, 9 cases of pathogenic mutations(6. 9%, 9/130),including 5 cases of nonsense mutations, 4 cases of frameshift mutations. The prevalence of BRCA1 mutations in 46 early onset breast cancer ca-ses was 28. 3%(13/46), which was higher than that in the late onset group (11. 9%,10/84),and the difference was statistically significant(χ2 =5. 460,P<0. 05). Compared with patients without BRCA1 mutations, who with it had earlier age of onset, higher rate of axillary lymph node metastasis and later of TNM stage,the differences were statistically significant ( P <0. 05 ) . Conclusion The prevalence of BRCA1 mutations in patients with TNBC is higher in multi-ethnic region of Xinjiang. Differences exist in clinical and pathological features between patients with BRCA1 gene mutation and without it.关键词
三阴性乳腺癌/BRCA1基因/突变/DNA序列测定/临床病理特征Key words
TNBC/BRCA1 genes/mutation/DNA sequence analysis/clinical pathological features分类
医药卫生引用本文复制引用
刘晓丹,吴涛,杜露,杨亮,王斌,吐鲁洪·沙吾列,赵倩,迪力夏提·金斯汗,朱丽萍..新疆多民族地区三阴性乳腺癌BRCA1基因突变分析[J].安徽医科大学学报,2015,(3):376-379,402,5.基金项目
新疆维吾尔自治区自然科学基金(编号:2012211A031) （编号:2012211A031）
