CAJ | 학술논문

目的通过对新疆82例遗传性乳腺癌 BRCA基因突变检测，了解新疆遗传性乳腺癌 BRCA1/2基因突变位点及携带情况。方法以来自新疆地区的82例符合遗传性乳腺癌标准的患者为研究对象，通过外周静脉血提取基因组 DNA，对 BRCA1/2基因的全部编码序列进行扩增。BRCA1/2基因突变分析由变性高效液相色谱分析（DHPLC）进行预筛，结果进行DNA测序证实。统计分析 BRCA1/2基因突变情况。结果82例遗传性乳腺癌，共发现8例（9．76％）BRCA基因突变，其中 BRCA1突变4例，BRCA2突变4例；4例 BRCA突变（2073delA移码突变、W372X无义突变、6873delCTCC移码突变、9481delA移码突变）在BIC数据库中未见报道。在三阴性乳腺癌中BRCA1突变率高（5/30，16．7％）。结论遗传性乳腺癌 BRCA基因突变率高于散发性乳腺癌；三阴性乳腺癌BRCA1突变的比例高；在新疆多民族地区未发现BRCA基因突变热点。
목적통과대신강82례유전성유선암 BRCA기인돌변검측，료해신강유전성유선암 BRCA1/2기인돌변위점급휴대정황。방법이래자신강지구적82례부합유전성유선암표준적환자위연구대상，통과외주정맥혈제취기인조 DNA，대 BRCA1/2기인적전부편마서렬진행확증。BRCA1/2기인돌변분석유변성고효액상색보분석（DHPLC）진행예사，결과진행DNA측서증실。통계분석 BRCA1/2기인돌변정황。결과82례유전성유선암，공발현8례（9．76％）BRCA기인돌변，기중 BRCA1돌변4례，BRCA2돌변4례；4례 BRCA돌변（2073delA이마돌변、W372X무의돌변、6873delCTCC이마돌변、9481delA이마돌변）재BIC수거고중미견보도。재삼음성유선암중BRCA1돌변솔고（5/30，16．7％）。결론유전성유선암 BRCA기인돌변솔고우산발성유선암；삼음성유선암BRCA1돌변적비례고；재신강다민족지구미발현BRCA기인돌변열점。
Objective Knowing the BRCA gene mutation’s locus and carrying situation of hereditary breast cancer of BRCA1/2 in Xinjiang by means of BRCA gene mutation testing for 82 cases of hereditary breast cancer of BRCA in Xinjiang.Methods 82 cases of hereditary breast cancer from Xinjiang are studied.All the coded sequences of BRCA1/2 gene were amplified by means of extracting genomic DNA from peripheral venous blood.BRCA1/2 gene mutation analysis was prescreened through DHPLC.Then,the result was verified by DNA sequencing.The situation of BRCA gene mutation was statistically analyzed. Results In the 82 cases of hereditary breast cancer in Xinjiang,there were 8 cases of gene mutation (8/82,9.76%);4 cases of BRCA mutation;4 case of BRCA 2 mutation;and 4 cases of BRCA mutation (2073delA frameshift mutation,W372X nonsense mutation,6873delCTCC frameshift mutation,9481delA frameshift mutation)have not been reported in BIC data base.The mutation rate of BRCA1 is (4/30,13. 3%)in triple negative breast cancer.Conclusion The mutation rate of BRCA gene of hereditary breast cancer is higher than sporadic breast cancer;the rate of BRCA1’s mutation of triple negative breast cancer is high;no BRCA gene mutation hot spots have been found in multi-national region in Xinjiang.