目的 探讨深圳地区当地与外来人员乳腺癌易感基因2 (BRCA2)基因突变的发生率及突变位点的差异.方法 选择乳腺癌患者202例,其中深圳地区当地人员(研究组)64例,深圳地区外来人员(对照组)138例.采用PCR/DNA测序法检测2组BRCA2基因突变发生率及突变位点,同时比较2组病理组织分类.结果 研究组存在BRCA2基因突变的有15例(23.4％),对照组存在BRCA2基因突变的有34例(24.6％),2组BRCA2基因突变发生率比较差异无统计学意义(P＞0.05).2组均检测到同一种BRCA2基因突变(EXON11f第910碱基T被C取代).研究组7例(46.6％)乳腺癌BRCA2基因突变主要病理类型为导管原位癌,对照组8例(44.2％)乳腺癌BRCA2基因突变主要病理类型为浸润性导管癌.结论 深圳地区当地与外来人员乳腺癌BRCA2基因突变发生率及突变位点相似,但病理组织类型存在差异.%Objective To investigate the mutation prevalence and mutation sites of breast cancer susceptibility gene BRCA2 in local and foreign patients with breast cancer in Shenzhen district. Methods The mutation prevalence and mutation sites of BRCA2 gene were detected by PCR and DNA sequencing in 64 local patients with breast cancer (study group) and 138 foreign patients with breast cancer (control group) in Shenzhen district. Histopathological classification was compared between the two groups. Results The mutation prevalence of BRCA2 gene was 23. 4% (15 patients) in study group and 24. 6% (34 patients) in control group, and the difference was not statistically significant between the two groups (P>0. 05). The BRCA2 gene mutation was found at the same location in the two groups (EXON11f 910 base T was replaced by C). In study group, 7 patients with BRCA2 gene mutation (46. 6%) had ductal carcinoma in situ. In control group,8 patients with BRCA2 gene mutation (44. 2%) had invasive lobular carcinoma. Conclusion The local and foreign patients with breast cancer in Shenzhen district have similar mutation prevalence and mutation sites of BRCA2 gene,but show different histopathologic classification.
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