CAJ | 학술논문

目的：研究中国汉族女性家族性乳腺癌患者和健康遗传性高危人群的BRCA1/2基因突变特征。方法：研究对象为2013年12月~2014年10月于解放军307医院乳腺外科确诊的54例汉族家族性乳腺癌患者及24例健康遗传性高危人群，应用PCR-DNA直接测序法检测乳腺癌易感基因BRCA1和BRCA2的全编码外显子基因序列。结果：54例家族性乳腺癌患者中共发现8例致病性突变，突变类型均为单个碱基置换，BRCA1和BRCA2的总突变率为14.8%， BRCA1突变率为11.1%，BRCA2突变率为3.7%；其中，三阴性乳腺癌患者BRCA总突变率高于非三阴性乳腺癌患者的总突变率（28.6% vs 12.8%），差异具有统计学意义（P<0.05）。24例遗传性高危人群中共发现2例致病性突变，均为BRCA1基因突变，突变率为8.3%。结论：用BRCA1/2突变检测“金标准”的一代测序法再次发现在中国汉族女性家族性乳腺癌中存在的BRCA1/2突变，与三阴性乳腺癌有关，并发现碱基置换突变也是重要的突变类型；在健康遗传性高危人群中存在一定比例的BRCA1突变，值得关注。
목적：연구중국한족녀성가족성유선암환자화건강유전성고위인군적BRCA1/2기인돌변특정。방법：연구대상위2013년12월~2014년10월우해방군307의원유선외과학진적54례한족가족성유선암환자급24례건강유전성고위인군，응용PCR-DNA직접측서법검측유선암역감기인BRCA1화BRCA2적전편마외현자기인서렬。결과：54례가족성유선암환자중공발현8례치병성돌변，돌변류형균위단개감기치환，BRCA1화BRCA2적총돌변솔위14.8%， BRCA1돌변솔위11.1%，BRCA2돌변솔위3.7%；기중，삼음성유선암환자BRCA총돌변솔고우비삼음성유선암환자적총돌변솔（28.6% vs 12.8%），차이구유통계학의의（P<0.05）。24례유전성고위인군중공발현2례치병성돌변，균위BRCA1기인돌변，돌변솔위8.3%。결론：용BRCA1/2돌변검측“금표준”적일대측서법재차발현재중국한족녀성가족성유선암중존재적BRCA1/2돌변，여삼음성유선암유관，병발현감기치환돌변야시중요적돌변류형；재건강유전성고위인군중존재일정비례적BRCA1돌변，치득관주。
Objective: To study the mutation of BRCA1 and BRCA2 gene among Han Chinese female familial breast cancer patients and healthy genetic groups at high risk. Methods: From December 2013 to October 2014, 54 Han Chinese breast cancer patients who were diagnosed in department of Breast Surgery in the PLA 307 Hospi?tal and 24 healthy genetic people at high risk were collected. Detect the coding exons gene sequences of suscepti?bility gene BRCA1 and BRCA2 by PCR-DNA direct sequencing. Results: 8 cases of the 54 patients showed patho?genic mutation and the type of them was a single base substitution. The total mutation rate of BRCA1 and BRCA2 gene was 14.8%, including BRCA1 gene mutation rate 11.1% and BRCA2 gene mutation rate 3.7%. The total muta?tion rate of BRCA1 gene in triple negative breast cancer(TNBC) patients was significantly higher than that of non-TNBC(NTNBC) patients(28.6% vs 12.8%), and the difference was statistically significant(P<0.05). 2 cases of 24 healthy genetic people at high risk showed BRCA1 gene pathogenic mutation and rate of mutation was 8.3%. Con?clusion: Through DNA direct sequencing, the gold standard used in detecting mutation of BRCA1 and BRCA2 gene, we fund that there were mutations of BRCA1 and BRCA2 gene among Han Chinese female familial breast cancer patients and these mutation was related with TNBC. Moreover, single base substitution was an important mu?tation type. There were certain portion of mutation among healthy genetic groups at high risk, which is noteworthy.