[早发性乳腺癌中的BRCA1基因突变]
[BRCA1 gene mutations in early-onset breast cancer].
作者信息
Ding X, Lang J
机构信息
Peking Union Medical College Hospital, Beijing 100730, China.
出版信息
Zhonghua Yi Xue Za Zhi. 2000 Feb;80(2):111-3.
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.
目的
检测早发性乳腺癌中BRCA1基因突变情况。
方法
采用聚合酶链反应和单链构象多态性分析（PCR-SSCP）检测10例早发性乳腺癌患者BRCA1基因外显子2、11和20的突变情况。
结果
在1例患者（诊断时24岁）中发现突变，位于核苷酸3732处，密码子1205中的“G”被“C”取代，导致甘氨酸变为精氨酸。
结论
我们的数据表明BRCA1可能对早发性乳腺癌有影响。
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