| CA1基因在早发性乳腺癌中的突变 |
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| 引用本文： | Ding X,Lang J. CA1基因在早发性乳腺癌中的突变[J]. 中华医学杂志, 2000, 80(2): 111-113 |
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| 作者姓名： | Ding X Lang J |
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| 作者单位： | 中国协和医科大学中国医学科学院北京协和医院 |
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| 摘 要： | 了解早发性乳腺癌和ＢＲＣＡ１基因异常的关系。方法应用聚合酶链反应－单链构象多态性分析,研究了１０例早发性乳腺癌患者ＢＲＣＡ１在外显子２,１１和２０的基因突变情况。结果１０例患者ＰＣＲ扩增产物均显示单一条带,与正常对照的相应片断长度一致。结论ＢＲＣＡ１在早发性乳腺癌中可能具有一定作用。
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| 关 键 词： | 乳腺癌 BRCA1基因 基因突变 |
| 修稿时间： | 1999-03-15 |
BRCA1 gene mutations in early-onset breast cancer |
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| Ding X,Lang J. BRCA1 gene mutations in early-onset breast cancer[J]. Zhonghua yi xue za zhi, 2000, 80(2): 111-113 |
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| Authors: | Ding X Lang J |
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| Affiliation: | Peking Union Medical College Hospital, Beijing 100730, China. |
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| Abstract: | OBJECTIVE: To detect BRCA1 gene mutations in early-onset breast cancer. METHODS: We use polymerase chain reaction and single strand conformation polymorphism analysis (PCR-SSCP) to examine the mutation at BRCA1 gene exon 2, 11 and 20 in 10 patients with early-onset breast cancer. RESULTS: Mutation was found in one cases (24 years old at diagnosis) at nucleotide 3 732, the substitution of a "G" to a "C" in codon 1 205 changed a Gly to a Arg. CONCLUSIONS: Our data suggest that BRCA1 may have effect on early-onset breast cancer. |
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| Keywords: | Breast neoplasms Genes BRCA1 Mutation |
| 本文献已被 CNKI 维普 万方数据 PubMed 等数据库收录！ |
