新疆地区三阴性乳腺癌Brca1/2突变相关分析

摘要

This paper aims to explore the relationship between triple-negative breast cancer and BRCA1/2 gene by detecting mutation of BRCA1/2 gene in Han and Uygur women with triple-negative breast cancer in Xinjiang area. This paper analysis on the pathological diagnosis in 88 cases of triple-negative breast cancer (63cases of Han,25 cases of Uygur) specimens, polymerase chain reaction(PCR)and DNA sequencing were used to detect the mutation of BRCA1/2 gene and analysis clinical pathological factors. Results display: this study shows that 25 patients was BRCA1/2 mutation in 88 cases,19 cases of BRCA1 mutation,6 cases of BRCA2;18 cases of Han,7 cases of Uygur. Addition,there were 23 cases of BRCA1/2 mutation in 77 patients who were premenopausal patients ,2 cases of BRCA1/2 mutation in 23 patients who were postmenopausal patients.And 5 cases of BRCA1 mutation,3 cases of BRCA2 mutation were in 25 patients of Early-onset breast cancer(age≤35 years),14 cases of BRCA1 mutation ,3 cases of BRCA2 mutation were in 62 patients of Breast cancer (age>35 years).Compared with two groups patients of BRCA1/2 mutation,there were no statistics difference (P>0.05). Finally come to the conclusion,selective triple-negative breast cancer get the higher mutation rate;selective triple-breast cancer of premenopausal patients is suggested to detect BRCA1/2 gene,especially age≤35 years.%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。