摘要
目的 探讨中国人群中乳腺癌与乳腺癌基因BRCA1的关系。方法 应用聚合酶链反应 -单链构象多态性分析技术 (PCR- SSCP)和 DNA序列测定技术对上海地区5 0例良性乳腺肿瘤和 2 5例恶性乳腺肿瘤患者和香港地区130例乳腺癌患者进行了 BRCA1基因表达的研究 ,并结合免疫组织化学分析其雌激素受体 (ER)、孕激素受体 (PR)水平。结果 发现中国人群乳腺癌 BRCA1基因突变多发的位点是外显子 8第 5 89位点上 CT缺失突变。其突变率为 3.9% ,小于 45岁发病的乳腺癌患者其 5 89del CT发生率为 2 .3%。乳腺肿瘤患者 BRCA1基因突变除了可能与发病年龄有关外 ,没有其它指标与 BRCA1基因突变相关。结论 提示中国人群中乳腺癌的发生与
Objective The relation between breast cancer and breast cancer susceptibility gene BRCA1 among Chinese people was investigated.Methods The BRCA1 gene expression in 50 benign and 25 malignant breast tumors of Shanghai patients and 130 breast cancer of Hongkong patients was tested by means of PCR SSCP and DNA sequencing methods.Estrogen receptor(ER)and progestin receptor (PR)were determined by immunohistochemical method.Results In Chinese population,the most frequent mutation site of BRCA1 occurred on locus 589 of exon 8 with CT deletion,the mutation rate was 2 3 %,the 589 delCT incidence in breast cancer patients under 45 years of age was 6 %. Serum ER and PR showed no relation with BRCA1 mutation.Conclusion BRCA1 gene mutation may relate to the age of breast cancer onset,thus it may relate to the genesis of breast cancer in Chinese population.
出处
《肿瘤》
CAS
CSCD
北大核心
2000年第2期129-132,共4页
Tumor
基金
上海市科委资助项目!编号 96JC14008
