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目的 :探讨BRCA1基因突变在散发性乳腺癌发生和发展中的作用及在乳腺癌临床诊断和治疗中的应用前景。方法 :应用PCR SSCP和直接测序法检测 3 0例散发性乳腺癌和 15例正常乳腺组织中BR CA1基因外显子 2、11和 2 0的突变情况。结果 :15例正常乳腺组织在 3个外显子上都未显示电泳异常 ,3 0例乳腺癌中有 6例在外显子 2上显示电泳条带异常 ,其中 4例经测序证实有突变 ,1例在外显子 2上 ,3例在内含子拼接区。BRCA1基因突变率在初诊年龄、临床分期和肿瘤体积上差异无统计学意义 ,但与肿瘤转移密切相关。结论 :BRCA1基因突变与散发性乳腺癌的发生和发展密切相关 ,该基因突变筛查可作为一种预后指标。
Objective: To investigate the role of BRCA1 gene mutation in the occurrence and development of sporadic breast cancer and its potential application in clinical diagnosis and treatment of breast cancer. Methods: The mutations of BRCA1 gene exons 2, 11 and 20 in 30 cases of sporadic breast cancer and 15 cases of normal breast tissues were detected by PCR SSCP and direct sequencing. RESULTS: None of the 15 normal breast tissues showed abnormal electrophoresis on all three exons. Six of thirty breast cancer samples showed abnormal electrophoresis bands on exon 2, of which four were confirmed by sequencing. 1 Example in exon 2, 3 cases in the intron splicing area. There was no significant difference in the mutation rate of BRCA1 between the newly diagnosed age, clinical stage and tumor volume, but it was closely related to tumor metastasis. Conclusion: The mutation of BRCA1 is closely related to the occurrence and development of sporadic breast cancer. The mutation screening of BRCA1 gene may be used as a prognostic indicator.