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首页> 外文期刊>Clinical Genetics: An International Journal of Genetics in Medicine >Prevalence of BRCA1/2 BRCA1/2 large genomic rearrangements in Chinese women with sporadic triple‐negative or familial breast cancer
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Prevalence of BRCA1/2 BRCA1/2 large genomic rearrangements in Chinese women with sporadic triple‐negative or familial breast cancer

机译：BRCA1 / 2 BRCA1 / 2大型基因组重排的普遍患者在散发性三重阴性或家族性乳腺癌中的大型基因组重排

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摘要

The prevalence of BRCA1/2 large genomic rearrangements (LGRs) and their underlying mechanisms have not been fully evaluated in Chinese women with breast cancer. In this study, we determined the prevalence of BRCA1/2 LGRs in 834 patients with familial breast cancer (FBC) and 660 patients with sporadic triple‐negative breast cancer (TNBC) who were negative for BRCA1/2 small‐range mutations using the multiplex ligation‐dependent probe amplification method. We found that 20 index patients (2.4%) in the FBC group carried a BRCA1 or BRCA2 LGR, and the frequencies of BRCA1 and BRCA2 LGRs were 1.6% and 0.8%, respectively. Seven index patients (1.1%) carried a BRCA1 LGR in 660 sporadic TNBC patients, whereas no BRCA2 LGRs were found in these patients. Among the BRCA1/2 LGRs, 48.1% (13/27) were novel, and the breakpoints of the majority of the LGRs were identified. ΨBRCA1 ‐mediated homologous recombination (HR) and Alu‐mediated HR/non‐homologous end‐joining (NHEJ) accounted for 40% and 30% of the BRCA1 LGRs, respectively. Alu‐mediated HR accounted for 71.4% of the BRCA2 LGRs, and the remaining one‐third was generated through Long interspersed nuclear elements (LINE)‐mediated NHEJ. Our findings suggest that both FBC patients and sporadic TNBC patients should be tested for BRCA1/2 LGRs.
机译：BRCA1 / 2大型基因组重排（LGR）及其潜在机制的患病率尚未在中国女性患有乳腺癌中得到充分评估的。在这项研究中，我们确定了在834名家庭乳腺癌（FBC）患者中BRCA1 / 2 LGRS的患病率和660例散发性三重阴性乳腺癌（TNBC）的患者使用多路复用的BRCA1 / 2小型突变为阴性结扎依赖性探针扩增法。我们发现FBC基团中的20名指数患者（2.4％）携带BRCA1或BRCA2 LGR，BRCA1和BRCA2 LGR的频率分别为1.6％和0.8％。七名指数患者（1.1％）在660例孢子型TNBC患者中携带BRCA1 LGR，而这些患者没有发现BRCA2 LGR。在BRCA1 / 2 LGR中，48.1％（13/27）是新颖的，鉴定了大多数LGR的断裂点。 ψBRCA1介导的同源重组（HR）和Alu介导的HR /非同源终端接合（NHEJ）分别占BRCA1 LGR的40％和30％。 ALU介导的人力资源占BRCA2 LGR的71.4％，剩余的三分之一是通过长时间的核心（线）导明的NHEJ产生。我们的研究结果表明，FBC患者和散发性TNBC患者应对BRCA1 / 2 LGR进行测试。

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    Su L.; Zhang J.; Meng H.; Ouyang T.; Li J.; Wang T.; Fan Z.; Fan T.; Lin B.; Xie Y.;

  • 作者单位

    Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education/Beijing) Breast;

    Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education/Beijing) Breast;

    Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education/Beijing) Breast;

    Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education/Beijing) Breast;

    Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education/Beijing) Breast;

    Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education/Beijing) Breast;

    Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education/Beijing) Breast;

    Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education/Beijing) Breast;

    Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education/Beijing) Breast;

    Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education/Beijing) Breast;

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  • 正文语种 eng
  • 中图分类 医学遗传学;
  • 关键词

    BRCA1/2 genes; Chinese; familial breast cancer; large genomic rearrangements; triple‐negative breast cancer;

    机译：BRCA1 / 2基因;中文;家族乳腺癌;大型基因组重排;三阴性乳腺癌;

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