维吾尔族和汉族散发性乳腺癌患者BRCA1／2基因突变的检测

摘要

目的：探讨新疆维吾尔族和汉族散发性乳腺癌患者乳腺癌易感基因1／2（ BRCA1／2）突变情况及与临床病理参数的关系。方法采用PCR和DNA直接测序法，对新疆地区230例散发性乳腺癌患者（维吾尔族、汉族各115例）石蜡组织进行BRCA1基因第2、11（11A和11B）、20号外显子和BRCA2基因第11号部分外显子，共5对引物进行突变检测。结果230例乳腺癌患者中，BRCA基因突变率为6.96％（16／230），其中1例BRCA1基因－5382位点的突变及7例新发突变位点；维吾尔族和汉族患者中BRCA基因突变检出率分别为7.83％（9／115）和6.09％（7／115）；BRCA基因突变组发病年龄均≤50岁；突变组16例患者中绝经前患者（13例）的突变率明显高于绝经后患者（3例）（P＜0.05）。结论 BRCA1基因突变可能与新疆地区散发性乳腺癌发生相关。%Objective To investigate the prevalence of BRCA1/2 gene mutations among Uygur and Han sporadic breast cancer patients in Xinjiang Uygur Automous.Methods Polymerase chain reaction ( PCR) and DNA se-quencing was used to detect mutations of BRCA1(exons 2, 11(11A and 11B) and 20) and BRCA2(exon 11) genes in the Paraffin imbedding tissues from 230 sporadic breast cancer patients ( 115 Uygur and 115 Han ) in Xinjiang Uygur Automous.Results In the 230 cases of sporadic breast cancer patients, 16 cases have gene mu-tation ( 16/230 ,6.96%) .One case of BRCA1 gene in 16 cases of mutations -5 382 locus mutation and 7 cases of new mutations.There was 2 germline mutation in exon 11 of BRCA2 gene.BRCA gene mutation rates of Uygur and Han patients were 7.83% ( 9/115 ) and 6.09% ( 7/115 ) .The onset age of mutations group were 50 or less.Mutations group of patients with amenorrhea ( 3 ) were less than whom were premenopausal ( 13 ) ( P <0.05 ) .Conclusions The prevalence of BRCA1 mutations was significantly higher than BRCA2 in sporadic breast cancer patients of Xinjiang.