Cao Yu-Wen, Fu Xin-Ge, Wan Guo-Xing, Yu Shi-Ying, Cui Xiao-Bin, Li Li, Jiang Jin-Fang, Zheng Yu-Qin, Zhang Wen-Jie, Li Feng
Department of Oncology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China E-mail :
Asian Pac J Cancer Prev. 2014;15(11):4513-8. doi: 10.7314/apjcp.2014.15.11.4513.
The prevalence of BRCA1 gene mutations in breast cancer differs between diverse ethnic groups. Relatively little information is known about patterns of BRCA1 mutations in early-onset breast cancer in women of Uighur or Han descent, the major ethnic populations of the Xinjiang region in China. The aim of this study was to identify BRCA1 mutations in Uighur and Han patients with early-onset (age <35 years), and sporadic breast cancer for genetic predisposition to breast cancer. For detection of BRCA1 mutations, we used a polymerase chain reaction single-stranded conformation polymorphism approach, followed by direct DNA sequencing in 22 Uighur and 13 Han women with early-onset sporadic breast cancer, and 32 women with benign breast diseases. The prevalence of BRCA1 mutations in this population was 22.9% (8/35) among early-onset sporadic breast cancer cases. Of these, 31.8% (7/22) of Uighur patients and 7.69% (1/13) of Han patients were found to have BRCA1 mutations. In 7 Uighur patients with BRCA1 mutations, there were 11 unique sequence alterations in the BRCA1 gene, including 4 clearly disease-associated mutations on exon 11 and 3 variants of uncertain clinical significance on exon 11, meanwhile 4 neutral variants on intron 20 or 2. None of the 11 BRCA1 mutations identified have been previously reported in the Breast Cancer Information Core database. These findings reflect the prevalence of BRCA1 mutations in Uighur women with early-onset and sporadic breast cancer, which will allow for provision of appropriate genetic counseling and treatment for Uighur patients in the Xinjiang region.
乳腺癌中BRCA1基因突变的患病率在不同种族群体之间存在差异。关于中国新疆地区主要民族维吾尔族或汉族女性早发性乳腺癌中BRCA1基因突变模式的信息相对较少。本研究的目的是在维吾尔族和汉族早发性（年龄<35岁）散发性乳腺癌患者中鉴定BRCA1基因突变，以确定乳腺癌的遗传易感性。为了检测BRCA1基因突变，我们采用聚合酶链反应单链构象多态性方法，随后对22名维吾尔族和13名汉族早发性散发性乳腺癌女性以及32名患有良性乳腺疾病的女性进行直接DNA测序。在早发性散发性乳腺癌病例中，该人群中BRCA1基因突变的患病率为22.9%（8/35）。其中，31.8%（7/22）的维吾尔族患者和7.69%（1/13）的汉族患者被发现有BRCA1基因突变。在7名有BRCA1基因突变的维吾尔族患者中，BRCA1基因有11种独特的序列改变，包括外显子11上4个明确的疾病相关突变和外显子11上3个临床意义不确定的变异，同时内含子20上有4个中性变异或2个。在乳腺癌信息核心数据库中，此前尚未报道过所鉴定的11种BRCA1基因突变中的任何一种。这些发现反映了维吾尔族早发性和散发性乳腺癌女性中BRCA1基因突变的患病率，这将有助于为新疆地区的维吾尔族患者提供适当的遗传咨询和治疗。
