CAJ | 학술논문

目的：研究新疆地区汉族和维吾尔族早发性、三阴性乳腺癌易患基因1（BRCA1）基因的突变情况及临床病理特征。方法选取2012年7月—2014年8月新疆医科大学附属肿瘤医院收治的早发性（发病年龄≤35岁）、三阴性乳腺癌患者60例，其中汉族30例，维吾尔族30例，运用聚合酶链反应（PCR）和 DNA 测序检测 BRCA1基因突变，并结合临床病理因素进行分析。结果60例早发性、三阴性乳腺癌患者 BRCA1突变率为18.3％（11/60），其中维吾尔族患者 BRCA1突变率为30.0％（9/30），汉族患者 BRCA1突变率为6.7％（2/30），两者突变率比较，差异有统计学意义（χ2＝5.454，P ＝0.019）。60例患者 BRCA1突变的位点共11个，其中8个可引起氨基酸错义突变，2个移码突变，1个拼接点突变。BRCA1基因突变者与无突变者民族、淋巴结转移个数、Ki -67表达情况比较，差异均有统计学意义（ P ＜0.05）。结论新疆地区维吾尔族和汉族早发性、三阴性乳腺癌 BRCA1基因突变存在差异， BRCA1突变者临床表现淋巴结转移多、Ki -67蛋白高表达，提示早发性、三阴性乳腺癌可能发病早，恶性程度高。
목적：연구신강지구한족화유오이족조발성、삼음성유선암역환기인1（BRCA1）기인적돌변정황급림상병리특정。방법선취2012년7월—2014년8월신강의과대학부속종류의원수치적조발성（발병년령≤35세）、삼음성유선암환자60례，기중한족30례，유오이족30례，운용취합매련반응（PCR）화 DNA 측서검측 BRCA1기인돌변，병결합림상병리인소진행분석。결과60례조발성、삼음성유선암환자 BRCA1돌변솔위18.3％（11/60），기중유오이족환자 BRCA1돌변솔위30.0％（9/30），한족환자 BRCA1돌변솔위6.7％（2/30），량자돌변솔비교，차이유통계학의의（χ2＝5.454，P ＝0.019）。60례환자 BRCA1돌변적위점공11개，기중8개가인기안기산착의돌변，2개이마돌변，1개병접점돌변。BRCA1기인돌변자여무돌변자민족、림파결전이개수、Ki -67표체정황비교，차이균유통계학의의（ P ＜0.05）。결론신강지구유오이족화한족조발성、삼음성유선암 BRCA1기인돌변존재차이， BRCA1돌변자림상표현림파결전이다、Ki -67단백고표체，제시조발성、삼음성유선암가능발병조，악성정도고。
Objective To study the mutation of breast cancer susceptibility gene 1( BRCA1) in Han and Uygur women with early - onset and triple - negative breast cancer in Xinjiang Area and the clinic pathologic features. Methods A total of 60 patients with early - onset( ≤35 years old) and triple - negative breast cancer who were admitted into the Tumor Hospital Affiliated to Xinjiang Medical University from July 2012 to August 2014 were enrolled,including 30 Han people and 30 Uygur people. Tests of polymerase chain reaction(PCR)and DNA sequencing were conducted to detect BRCA1 gene mutation, and the test results were analyzed in combination with clinic pathologic characteristics. Results The BRCA1 gene mutation rate was 18. 3% ( 11 / 60 )for all subjects,30. 0% ( 9 / 30 ) for Uygur subjects and 6. 7% ( 2 / 30 ) for Han subjects,with significant difference between the two groups(χ2 = 5. 454,P = 0. 019). The total number of mutant sites was 11,including eight amino acid missense mutations,two frame - shift mutations and one splice mutation. Subjects with BRCA1 gene mutation and subjects without mutation were significantly different in ethnic group,number of lymphatic metastasis and Ki - 67 expression (P < 0. 05). Conclusion Uygur and Han women with early - onset and triple - negative breast cancer in Xinjiang Area are different in BRCA1 gene mutation. The manifestations of BRCA1 gene mutation include more lymphatic metastasis and higher level of Ki - 67 expression,suggesting that early - onset and triple - negative breast cancer may happen earlier with higher malignancy.