[中国早发性乳腺癌患者及其患病亲属中BRCA1基因突变分析]
[Analysis of BRCA1 mutations in Chinese patients with early onset breast cancer and affected relatives].
作者信息
Hu Zhen, Wu Jiong, Lu Jin-song, Luo Jian-min, Han Qi-xia, Shen Zhen-zhou, Shao Zhi-min
机构信息
Department of Breast Surgery, Cancer Hospital/Institute, Fudan University, Shanghai 200032, China.
出版信息
Zhonghua Zhong Liu Za Zhi. 2004 Nov;26(11):657-9.
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.
目的
研究中国早发性乳腺癌患者及其患病亲属中的BRCA1基因突变情况。
方法
采用聚合酶链反应-单链构象多态性（PCR-SSCP）和DNA测序技术，对41例患者外周血单个核细胞的基因组DNA进行研究。检测BRCA1基因全序列中的突变情况。
结果
在研究的41例患者中，有3例检测到与疾病相关的BRCA1基因突变。3例患者中有2例年龄小于35岁，1例有家族史。
结论
中国早发性乳腺癌患者中BRCA1基因突变的发生率与西方国家报道的相似，但有患病亲属的中国乳腺癌患者中突变的发生率相对较低。
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