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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。
Objective To investigate the loci of BRCA1 gene mutation and its carrying status in Fujian hereditary breast cancer patients. Methods Twenty cases of hereditary breast cancer were detected by DNA sequencing. The complete sequence of exon 11 of BRCA1 gene was sequenced. Results A total of 9 BRCA1 gene mutations were detected in 5 of the 20 specimens, of which 3 were newly found (missense mutations 1159T> C, 4071A> C; synonymous mutations 4122C> T); the other 6 were reported Two of the loci (2201C> T, 2430T> C) were synonymous and the other four (2685T> C, 2731C> T, 3232A> G, 3667A> G) were missense mutations. In this study, the mutation rate of BRCA1 Is 25%. Conclusion The genetic mutation of BRCA1 in patients with hereditary breast cancer in Fujian is characterized by geographical features. The detection of BRCA1 mutation may be helpful for the risk assessment and early diagnosis of cancer in women in this area.