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人群中由于BRCA1基因突变导致的卵巢癌发生率约为3％,据报道BRCA1和BRCA2基因突变在犹太族中有较高发生率,这些突变包括BRCA1基因185AG缺失、5382C插入突变及BRCA2基因6174T缺失突变。为了解犹太妇女上皮性卵巢癌BRCA1和BRCA2基因的突变率,进行一项以人群为基础的病例对照研究。上皮性卵巢癌563例为病例组,523例具有完整卵巢、无卵巢癌家族史者为对照组。病例组中有54例犹太妇女,占10％,对照组中有44例犹太妇女,占8％。从这些犹太妇女中采取外周血,应用单链构象多态分析(SSCP)检测BRCA1
The prevalence of ovarian cancer in the population due to BRCA1 mutations is about 3%. It is reported that BRCA1 and BRCA2 mutations have a high prevalence in the Jewish community. These mutations include 185AG deletion of BRCA1 gene, 5382C insertion mutation and 6174T deletion of BRCA2 gene mutation. To understand the mutation rates of BRCA1 and BRCA2 genes in Jewish women with epithelial ovarian cancer, a population-based case-control study was conducted. Epithelial ovarian cancer in 563 cases as case group, 523 cases with complete ovary, ovarian cancer without family history as control group. There are 54 Jewish women in the case group, accounting for 10% of the cases, and 44 Jewish women in the control group, accounting for 8%. Peripheral blood was taken from these Jewish women and single-stranded conformational polymorphism (SSCP) was used to detect BRCA1