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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 BRCA1基因突变可能有关
Objective To explore the relationship between breast cancer and breast cancer gene BRCA1 in Chinese population. Methods Polymerase chain reaction-single strand conformation polymorphism analysis (PCR-SSCP) and DNA sequencing technique were used in 50 patients with benign breast tumor and 25 with malignant breast tumor in Shanghai and 130 breast cancer patients in Hong Kong. The BRCA1 gene expression was studied and its levels of estrogen receptor (ER) and progesterone receptor (PR) were analyzed by immunohistochemistry. Results It was found that the majority of BRCA1 mutations in breast cancer in Chinese population were CT deletion mutations at the 5 th position of exon 8 . The mutation rate was 3.9%. The incidence of 5 89del CT in breast cancer patients less than 45 years old was 2.3%. In addition to BRCA1 mutations in breast cancer patients may be related to the age of onset, there are no other indicators associated with mutations in the BRCA1 gene. Conclusions suggest that the occurrence of breast cancer in Chinese population may be related to BRCA1 mutation