中国福建遗传性乳腺癌BRCA1基因突变分析

目的研究福建遗传性乳腺癌患者BRCA1基因突变位点及携带情况。方法对20例遗传性乳腺癌患者血液标本进行检测,对其BRCA1基因第11号外显子全序列进行DNA测序。结果20例标本中检出5患者存在共计9种BRCA1基因突变,其中3个为新发现位点（错义突变1159T〉C,4071A〉C;同义突变4122C〉T）;其它6个已报道位点中2个（2201C〉T,2430T〉C）为同义突变,其余4个（2685T〉C,2731C〉T,3232A〉G,3667A〉G）属错义突变,本研究中BRCA1突变率为25%。结论福建遗传性乳腺癌患者BRCA1基因突变具有地域性特征,开展BRCA1基因突变检测有助于本地区女性患癌风险评估和早期诊断。

BRCA1 gene mutations of hereditary breast cancer from Fujian in China

Objective： To investigate the prevalence of BRCA1 gene mutations among hereditary breast cancer patients from Fujian. Methods： Blood samples of 20 hereditary breast cancer patients were studied, the mutations of BRCA1 gene exonl1 were screened by the DNA direct sequencing, Results ： 5 of 20 patients with a total of 9 k Nine mutations were identified that included 3 norel mutations （ missense mutation 1159T 〉 C, 4071A 〉 C and synonymous mutation 4122C 〉 T） and 6 previously reported mutations （ missense mutation 2685T 〉 C, 2731C 〉 T, 3232A 〉 G, 3667A 〉 G and synonymous mutation 2201C 〉 T, 2430T 〉 C） were detected. The mutation frequency of BRCA1 in patients with hereditary breast cancer family was 25% in this study. Conclusion： There is existence of regional characteristics of BRCA1 gene mutation in Fujian population, carring out BRCA1 gene mutation detection in this region contribute to female cancer risk assessment and early diagnosis.