论文部分内容阅读
文章通过检测新疆地区汉族及维吾尔族三阴性乳腺癌中Brca1/2基因突变情况,探讨Brca1/2基因与三阴性乳腺癌的关系。文章选取病理确诊三阴性乳腺癌88例(汉族63例,维吾尔族25例)标本,运用聚合酶链反应方法(PCR)和DNA测序检测Brca1/2基因突变,并结合临床及病理因素进行分析。结果显示:88例患者中BRCA1/2突变25例,19例BRCA1突变,6例BRCA2突变;汉族18例、维吾尔族7例;77例为绝经前患者,BRCA1/2基因突变23例,11例为绝经后患者,BRCA1/2基因突变2例;早发性乳腺癌(年龄≤35岁)26例,BRCA1突变5例,BRCA2突变3例,年龄>35岁乳腺癌患者62例,BRCA1突变14例,BRCA2突变3例,两组患者突变情况经比较,差异均无统计学意义(P>0.05)。最终得出结论,选择性三阴性乳腺癌患者BRCA1/2突变率更高,绝经前的三阴性乳腺癌患者尤其是年龄在35岁以下的选择性乳腺癌患者建议进行BRCA1/2突变检测。
The aim of this study is to investigate the relationship between Brca1 / 2 gene and triple negative breast cancer by detecting the mutation of Brca1 / 2 gene in Han and Uygur tri-negative breast cancers in Xinjiang region. Eighty-eight cases of triple-negative breast cancer (63 cases of Han and 25 cases of Uygur) were confirmed by pathology. The mutations of Brca1 / 2 gene were detected by polymerase chain reaction (PCR) and DNA sequencing, and the clinical and pathological factors were analyzed. The results showed that there were 25 BRCA1 / 2 mutations, 19 BRCA1 mutations and 6 BRCA2 mutations in 88 patients. There were 18 Han cases and 7 Uyghur cases, 77 premenopausal patients, 23 BRCA1 / 2 mutations and 11 In postmenopausal women, 2 cases of BRCA1 / 2 gene mutation; 26 cases of early-stage breast cancer (≤35 years of age), 5 cases of BRCA1 mutation, 3 cases of BRCA2 mutation, 62 cases of breast cancer aged> 35 years, BRCA1 mutation 14 Cases, BRCA2 mutations in 3 cases, the two groups of patients with mutations compared, the difference was not statistically significant (P> 0.05). Finally, we conclude that the BRCA1 / 2 mutation rates are higher in patients with triple-negative breast cancer, and that premenopausal patients with triple-negative breast cancer, especially those under 35 years of age, recommend the BRCA1 / 2 mutation test.