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目的： 分析３８ 例散发乳腺癌患者 Ｂ Ｒ Ｃ Ａ１ 基因突变情况及突变位置。方法： 应用 Ｐ Ｃ Ｒ Ｓ Ｓ Ｃ Ｐ（ Ｓｉｎｇｌｅｓｔｒａｎｄｅｄ ｃｏｎｆｏｒｍａｔｉｏｎａｌ ｐｏｌｙｍｏｒｐｈｉｓｍ ， Ｓ Ｓ Ｃ Ｐ） 和直接测序方法。结果：４／３８ 例患者 Ｂ Ｒ Ｃ Ａ１ 基因有突变，突变例数占总例数的１０ ．５ ％ ，其中３ 例突变位置在内含子的拼接区，一例突变位置在１１ 号外显子上。结论：筛查 Ｂ Ｒ Ｃ Ａ１ 基因突变对于乳腺癌患病风险评估、发病检测、早期诊断及基因治疗具有重要的临床意义。
Objective: To analyze the B R C A1 gene mutation and mutation location in 38 patients with sporadic breast cancer. Methods: Application of P C R S S C P (Single-stranded conformational polymorphism, S S C P) and direct sequencing methods. Results: There were mutations in the B R C A1 gene in 4/38 patients. The number of mutations accounted for 10 of the total cases. In 5%, 3 of the mutations were located in the spliced region of the intron, and one mutation was located in the 11th exon. Conclusion: Screening for B R C A1 gene mutation has important clinical significance for risk assessment, pathogenesis, early diagnosis and gene therapy of breast cancer.