欧江华, 吴涛, 倪多, 许文婷, 陈玲, 哈木拉提·吾甫尔. 68例中国新疆多民族地区遗传性乳腺癌患者BRCA1和BRCA2突变研究[J]. 中国肿瘤临床, 2012, 39(20): 1539-1541, 1546. DOI: 10.3969/j.issn.1000-8179.2012.20.021
引用本文: 欧江华, 吴涛, 倪多, 许文婷, 陈玲, 哈木拉提·吾甫尔. 68例中国新疆多民族地区遗传性乳腺癌患者BRCA1和BRCA2突变研究[J]. 中国肿瘤临床, 2012, 39(20): 1539-1541, 1546. DOI: 10.3969/j.issn.1000-8179.2012.20.021
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Jianghua OU, Tao WU, Duo NI, Wentin XU, Lin CHEN, UpurHalmurat. BRCA1 and BRCA2 Deleterious Mutations in 68 Patients with Hereditary Predisposition to Breast Cancer among Multiple Ethnic Groups in Xinjiang[J]. CHINESE JOURNAL OF CLINICAL ONCOLOGY, 2012, 39(20): 1539-1541, 1546. DOI: 10.3969/j.issn.1000-8179.2012.20.021
Citation: Jianghua OU, Tao WU, Duo NI, Wentin XU, Lin CHEN, UpurHalmurat. BRCA1 and BRCA2 Deleterious Mutations in 68 Patients with Hereditary Predisposition to Breast Cancer among Multiple Ethnic Groups in Xinjiang[J]. CHINESE JOURNAL OF CLINICAL ONCOLOGY, 2012, 39(20): 1539-1541, 1546. DOI: 10.3969/j.issn.1000-8179.2012.20.021
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68例中国新疆多民族地区遗传性乳腺癌患者BRCA1和BRCA2突变研究

BRCA1 and BRCA2 Deleterious Mutations in 68 Patients with Hereditary Predisposition to Breast Cancer among Multiple Ethnic Groups in Xinjiang

    摘要
  • 摘要:
      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 6873del CTCC及BRCA2 9481del A可能是新疆遗传性乳腺癌特有的突变位点。

     

    Abstract:
      Objective  This study aimed to investigate the prevalence and spectrum of the BRCA1/2 gene mutation in high-risk breast cancer cases among multiple ethnic groups in Xinjiang, China.
      Methods  A total of 68 high-risk breast cancer cases from Xinjiang were included in this study according to the following inclusion criteria: 12 hereditary predisposition to breast cancer (HBC) cases (at least one first- or second-degree relative with breast cancer), 4 hereditary predisposition to breast and ovarian cancer cases (at least one first- or second-degree relative with ovarian cancer), 25 early-onset breast cancer cases (onset age below 35 years), 10 bilateral breast cancer cases, and 17 triple-negative breast cancer cases (onset age below 45 years). Genomic DNA was extracted and relevant coding sequences were amplified by PCR. The entire coding BRCA1/2 genes were analyzed by DHPLC followed by DNA sequencing.
      Results  A total of six deleterious mutations were identified: three in BRCA1 and three in BRCA2. The prevalence of BRCA1/2 mutation in high-risk HBC was 8.8% (6/68). No significant difference was observed among the ethnic groups in terms of BRCA1/2 mutation prevalence.
      Conclusion  High-risk HBC cases had different BRCA mutation spectra from ethnic Chinese breast cancer cases in Xinjiang, China.

     

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