中国家族性和早发性乳腺癌BRCA1基因突变的研究  

Analysis of BRCA1 mutations in Chinese patients with early onset breast cancer and affected relatives

作　　者：胡震[1] 吴炅[1] 陆劲松[1] 罗建民[1] 韩企夏[1] 沈镇宙[1] 邵志敏[1] 

机构地区：[1]复旦大学附属肿瘤医院乳腺外科,上海200032

出　　处：《中华肿瘤杂志》2004年第11期657-659,共3页Chinese Journal of Oncology

基　　金：国家杰出青年基金 (3 0 0 2 5 0 15 ) ;上海市卫生系统百人计划 (3 1199815 3 0 2 10 10 5 ) ;国家"十五"攻关项目 (2 0 0 1BA70 3B0 4)

摘　　要：目的　研究中国家族性和早发性乳腺癌患者的BRCA1基因突变情况。方法　选取 4 1例家族性和早发性乳腺癌患者的外周血单个核细胞DNA ,应用PCR SSCP和DNA序列测定方法 ,对BRCA1基因全序列进行突变检测和分析。结果　 4 1例乳腺癌患者中 ,3例发生BRCA1疾病相关性突变 ,其中年龄 <35岁的患者 2例 ,具有乳腺癌家族史的患者 1例。结论　中国早发性乳腺癌患者的BRCA1突变发生率与西方国家相近 ,而家族性乳腺癌患者的突变发生率明显低于西方国家。Objective To study the BRCA1 mutations in Chinese patients with early onset breast cancer and affected relatives. Methods Genomic DNA from 41 patients′ peripheral blood mononuclear cells was studied by using polymerase chain reaction-single strand conformational polymorphism (PCR-SSCP) and DNA sequencing. BRCA1 mutations were detected in the whole gene sequence. Results Disease-related BRCA1 mutations were detected in 3 of the 41 patients studied. Two of the 3 patients were younger than 35 years old, and one patient with family history. Conclusion The incidence of BRCA1 mutations in Chinese patients with early onset breast cancer is similar to that reported from western countries, but the incidence of mutations in Chinese breast cancer patients with affected relatives is comparatively low.

关 键 词：中国 家族性 早发性 乳腺癌 BRCA1基因 基因突变 PCR—ssCP 

分 类 号：R737.9[医药卫生—肿瘤]