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乳腺癌BRCA1 基因突变的筛查研究

Mutational Screening of BRCA1 in Breast Cancer Patients

  • 摘要: 目的 研究BRCA1基因在散发性乳腺癌中的突变情况,探讨BRCA1基因突变与乳腺癌的关系。方法 应用PCR-SSCP(single-strand conformation polymorphism analysis)分析和DNA直接测序法,检测65例散发性乳腺癌BRCAI第2,3,5,8,10,12,13,14,15,16,17,18,19,20和21外显子基因突变情况。结果 65例中共检测出4例突变,其中1例为5外显子的错义突变(287A〉T),1例为12外显子的错义突变(4285G〉A),1例为17外显子的错义突变(5115T〉C),1例为18外显子的错义突变(5206T〉A)。乳腺癌BRCA1的基因突变率为6.2%(4/65)。结论 BRCA1基因突变与散发性乳腺癌有密切关系。

     

    Abstract: Objective  To screen BRCA1 gene mutation in sporadic breast cancer. Methods  Mutational screening on f ragment s of exon 2, 3, 5, 8, 10, 12, 13, 14, 15, 16, 17, 18, 19, 20 and 21 of BRCA1 gene in 65 cases of sporadic breast cancer was performed by PCR-SSCP( single-strand conformation polymorphism analysis), and alterations were confirmed by DNA sequencing. Results  A total of 4 single nucleotide changes in BRCA1 were identified, including 1 missense mutations in exon 5 (287 A > T), 1 missense mutation in exon 12 (4 285 G> A), 1 missense mutations in exon 17 (5 115 T > C), and 1 missense mutations in exon 18 (5 206 T > A ), the mutation rate was 6. 2 %(4/ 65) . Conclusion  Mutations in BRCA1 is closely related to sporadic breast cancer.

     

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