家族性乳腺癌乳腺癌易感基因-1突变分析

Analysis of breast cancer susceptibility gene-1 mutations in Chinese familial breast cancer patients

目的探讨中国家族性乳腺癌患者乳腺癌易感基因-1(BRCA-1)突变情况。方法采用聚合酶链反应-单链构像多态性分析(PCR-SSCP)和DNA直接测序,对15个家系23例家族性乳腺癌患者进行BRCA1全序列突变分析。结果 发现4例基因突变,突变率为17.4％(4/23)。其中1例为2228 insG插入突变,致编码子711处蛋白截短;另3例(2种)为1884 A→T和3232 A→G单个核苷酸突变,结果导致编码子589和1038单个氨基酸改变。结论 BRCA1为家族性乳腺癌的遗传基因,3232 A→G可能为中国人的“突变热点”。BRCA1突变检测在高危人群中有一定意义。

Objective To study the mutations of breast cancer susceptibility gene-1(BRCA1)in Chinese familial breast cancer patients. Methods Using polymerase chain reaction and single stranded conformation polymorphism (PCR-SSCP) and DNA sequencing, the mutations of BRCA1 gene in 23 familial breast cancer patients were analyzed.Results 4 mutations (17.4%) were found.One was inserting C at nt2228, resulting in chain termination at codon 711. The others had one nucleotide variation at 1884 A→T and 3232 A→G, resulting in single amino acid change at codon 589 and codon 1038 respectively. Conclusion BRCA1 may have effect on patients with familial breast cancer. 3232 A→G might be the hot spot mutation in Chinese familial breast cancer patients. Detection of BRCA1 mutations is of benefit to high-risk population.