维吾尔族和汉族散发性乳腺癌患者BRCA1/2基因突变的检测
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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-5 382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 sequencing was used to detect mutations of BRCA1( exons 2,11( 11 A and 11 B) 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 mutation( 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.
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 sequencing was used to detect mutations of BRCA1( exons 2,11( 11 A and 11 B) 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 mutation( 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.
引文
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[9]张亚芬,王江芬,高润芳.散发性乳腺癌患者BRCA1基因突变的分析[J].中国药物与临床,2013,13:1010-1012.
[10]King T,Sakr R,Patil S,et al.Clinical management of factors contribute to the decision for contralateral prophylactic masstectomy[J].Am J Clin Oncol,2011,29:2158-2164.
[2]Narod SA.Breast cancer in young women[J].Nat Rev Clin Oncol,2012,9:460-470.
[3]Roy R,Chun J,Powell SN.BRCA1 and BRCA2:differen roles in a common pathway of genome protection[J].Na Rev Cancer,2011,12:68-78.
[4]Bayraktar S,Jackson M,Gutierrez-Barrera AM,et al.Genotype-Phenotype Correlations by Ethnicity and Mutation Location in BRCA Mutation Carriers[J].Breast J,2015,21:260-267.
[5]Goldhirsch A,Winer EP,Coates AS.Personalizing the treatment of women with early breast cancer:highlights of the St Gallen International Expert Consensus on the Primary Therapy of Early Breast Cancer 2013[J].Ann of Oncol,2013,24:2206-2223.
[6]Bernstein JL,Thomas DC,Shore RE,et al.Contralateral breast cancer after radiotherapy among BRCA1 and BRCA2mutation carriers:a WECARE study report[J].Eur JCancer,2013,49:2979-2985
[7]Kwong A,Ng EK,Wong CL,et al.Identification of BRCA1/2 founder mutations in Southern Chinese breast cancer patients using gene sequencing and high resolution DNA melting analysis[J].PLoS One,2012;7:e43994.doi:10.1371/journal.pone.0043994.Epub 2012 Sep 7.
[8]吴涛,欧江华,哈木拉提·吾甫尔,等.新疆遗传性乳腺癌BRCA1/2基因突变检测的研究[J].新疆医科大学学报,2013,36:1142-1146.
[9]张亚芬,王江芬,高润芳.散发性乳腺癌患者BRCA1基因突变的分析[J].中国药物与临床,2013,13:1010-1012.
[10]King T,Sakr R,Patil S,et al.Clinical management of factors contribute to the decision for contralateral prophylactic masstectomy[J].Am J Clin Oncol,2011,29:2158-2164.