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目的:分析中国新疆多民族地区的高风险遗传性乳腺癌BRCA1/2基因突变位点情况。方法:以2009年1月到2010年12月新疆医科大学附属肿瘤医院收治的来自新疆地区的68例符合高风险遗传性乳腺癌标准的患者为研究对象,其中HBC 12例,HBOC 4例,E-BC 25例,BI-BC 10例,TNB 17例。通过外周静脉血提取基因组DNA,对BRCA1/2基因的全部编码序列进行扩增。用高效液相色谱分析(DHPLC)进行突变分析预筛,结果经DNA测序验证。结果:BRCA1/2致病性突变在新疆地区高风险遗传性乳腺癌的突变率为8.8%(6/68)。其中BRCA1的突变率为4.4%(3/68),BRCA2的突变率为4.4%(3/68)。不同民族之间BRCA1/2突变率无统计学差异。结论:中国新疆多民族地区的高风险遗传性乳腺癌患者部分病例具有与内地汉族人群不同的BRCA基因突变谱。BRCA1 2073delA,BRCA2 6873de1 CTCC及BRCA2 9481del A可能是新疆遗传性乳腺癌特有的突变位点。
Objective: To analyze the location of BRCA1 / 2 mutation in high-risk hereditary breast cancer in the multi-ethnic regions of China. Methods: From January 2009 to December 2010, Xinjiang Cancer Hospital Affiliated Cancer Hospital from Xinjiang 68 cases of high risk hereditary breast cancer patients as the research object, including 12 cases of HBC, 4 cases of HBOC, E 25 cases of BC, 10 cases of BI-BC and 17 cases of TNB. Genomic DNA was extracted from peripheral venous blood and the entire coding sequence of the BRCA1 / 2 gene was amplified. High-performance liquid chromatography (DHPLC) mutation analysis pre-sieved, the results of DNA sequencing validation. Results: The mutation rate of BRCA1 / 2 pathogenic mutation was 8.8% (6/68) in Xinjiang high-risk hereditary breast cancer. Among them, the mutation rate of BRCA1 was 4.4% (3/68) and the mutation rate of BRCA2 was 4.4% (3/68). There was no significant difference in BRCA1 / 2 mutation rates among different ethnic groups. Conclusions: Some cases of high-risk hereditary breast cancer patients in the multi-ethnic areas of Xinjiang in China have different BRCA gene mutation profiles from those of the Han Chinese in the Mainland. BRCA1 2073delA, BRCA2 6873de1 CTCC and BRCA2 9481del A may be unique mutations in Xinjiang hereditary breast cancer.