江苏科技信息 ›› 2015, Vol. 32 ›› Issue (30): 73-76.doi: 10.3969/j.issn.1004-7530.2015.30.030

• 论文 • 上一篇    下一篇

新疆地区三阴性乳腺癌Brca1/2突变相关分析

赵倩, 迪力夏提·金斯汗, 李涌涛, 朱丽萍   

  1. 新疆医科大学附属肿瘤医院,新疆乌鲁木齐,830011
  • 出版日期:2015-10-25 发布日期:2015-10-25
  • 基金资助:
    2014年肿瘤医院启动基金%项目编号肿2014-11。

Analysis on Mutation of BRCA1/2 Gene in Women with Triple-negative Breast Cancer in Xinjiang Area

Zhao Qian, Di lixiati·Jingsihan, Li Yongtao, Zhu Liping   

  • Online:2015-10-25 Published:2015-10-25

摘要: 文章通过检测新疆地区汉族及维吾尔族三阴性乳腺癌中Brca1/2基因突变情况,探讨Brca1/2基因与三阴性乳腺癌的关系。文章选取病理确诊三阴性乳腺癌88例(汉族63例,维吾尔族25例)标本,运用聚合酶链反应方法(PCR)和DNA测序检测Brca1/2基因突变,并结合临床及病理因素进行分析。结果显示:88例患者中BRCA1/2突变25例,19例BRCA1突变,6例BRCA2突变;汉族18例、维吾尔族7例;77例为绝经前患者,BRCA1/2基因突变23例,11例为绝经后患者,BRCA1/2基因突变2例;早发性乳腺癌(年龄≤35岁)26例,BRCA1突变5例,BRCA2突变3例,年龄>35岁乳腺癌患者62例, BRCA1突变14例,BRCA2突变3例,两组患者突变情况经比较,差异均无统计学意义(P>0.05)。最终得出结论,选择性三阴性乳腺癌患者BRCA1/2突变率更高,绝经前的三阴性乳腺癌患者尤其是年龄在35岁以下的选择性乳腺癌患者建议进行BRCA1/2突变检测。

关键词: 乳腺癌, 早发性, 三阴性, BRCA1/2基因, DNA测序

Abstract: This paper aims to explore the relationship between triple-negative breast cancer and BRCA1/2 gene by detecting mutation of BRCA1/2 gene in Han and Uygur women with triple-negative breast cancer in Xinjiang area. This paper analysis on the pathological diagnosis in 88 cases of triple-negative breast cancer (63cases of Han,25 cases of Uygur) specimens, polymerase chain reaction(PCR)and DNA sequencing were used to detect the mutation of BRCA1/2 gene and analysis clinical pathological factors. Results display: this study shows that 25 patients was BRCA1/2 mutation in 88 cases,19 cases of BRCA1 mutation,6 cases of BRCA2;18 cases of Han,7 cases of Uygur. Addition,there were 23 cases of BRCA1/2 mutation in 77 patients who were premenopausal patients ,2 cases of BRCA1/2 mutation in 23 patients who were postmenopausal patients.And 5 cases of BRCA1 mutation,3 cases of BRCA2 mutation were in 25 patients of Early-onset breast cancer(age≤35 years),14 cases of BRCA1 mutation ,3 cases of BRCA2 mutation were in 62 patients of Breast cancer (age>35 years).Compared with two groups patients of BRCA1/2 mutation,there were no statistics difference (P>0.05). Finally come to the conclusion,selective triple-negative breast cancer get the higher mutation rate;selective triple-breast cancer of premenopausal patients is suggested to detect BRCA1/2 gene,especially age≤35 years.