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首页> 外文期刊>Human mutation >Detection of novel germline mutations in six breast cancer predisposition genes by targeted next‐generation sequencing
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Detection of novel germline mutations in six breast cancer predisposition genes by targeted next‐generation sequencing

机译：靶向下一代测序检测六种乳腺癌易感基因的新种系突变

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摘要

Abstract In this study, a customized amplicon‐based target sequencing panel was designed to enrich the whole exon regions of six genes associated with the risk of breast cancer. Targeted next‐generation sequencing (NGS) was performed for 146 breast cancer patients (BC), 71 healthy women with a family history of breast cancer (high risk), and 55 healthy women without a family history of cancer (control). Sixteen possible disease‐causing mutations on four genes were identified in 20 samples. The percentages of possible disease‐causing mutation carriers in the BC group (8.9%) and in the high‐risk group (8.5%) were higher than that in the control group (1.8%). The BRCA1 possible disease‐causing mutation group had a higher prevalence in family history and triple‐negative breast cancer, while the BRCA2 possible disease‐causing mutation group was younger and more likely to develop axillary lymph node metastasis ( P? ?0.05). Among the 146 patients, 47 with a family history of breast cancer were also sequenced with another 14 moderate‐risk genes. Three additional possible disease‐causing mutations were found on PALB2 , CHEK2 , and PMS2 genes, respectively. The results demonstrate that the six‐gene targeted NGS panel may provide an approach to assess the genetic risk of breast cancer and predict the clinical prognosis of breast cancer patients.
机译：摘要在本研究中，设计了一种定制的基于扩增子的目标测序面板，以丰富与乳腺癌风险相关的六个基因的整个外显子区域。针对146例乳腺癌患者（BC），71名健康妇女进行了靶向下一代测序（NGS），具有乳腺癌（高风险）的家族史和55名健康女性，没有癌症家族史（对照）。在20个样品中鉴定了四种基因上的16种可能的疾病突变。在BC组（8.9％）和高风险组（8.5％）中的可能疾病导致突变载体的百分比高于对照组（1.8％）。 BRCA1可能的疾病导致突变组在家庭历史和三阴性乳腺癌中具有更高的流行，而BRCA2可能的疾病引起的突变组较年轻，更可能发展腋窝淋巴结转移（P？＆ 0. 0.05） 。在146名患者中，47名患有乳腺癌的家族史也被另外14个中度风险基因进行测序。在PALB2，CHEK2和PMS2基因上发现了三种额外的额外疾病突变。结果表明，六基因靶向NGS面板可以提供评估乳腺癌遗传风险的方法，并预测乳腺癌患者的临床预后。

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  • 来源
    《Human mutation》 |2018年第10期|共14页
  • 作者

    Dong Li; Wu Nan; Wang Shaojing; Cheng Yanan; Han Lei; Zhao Jing; Long Xinxin; Mu Kun; Li Menghui; Wei Lijuan; Wang Wanheng; Zhang Weijia; Cao Yandong; Liu Juntian; Yu Jinpu; Hao Xishan;

  • 作者单位

    Cancer Molecular Diagnostics Core Tianjin Medical University Cancer Institute and Hospital;

    Cancer Prevention Center Tianjin Medical University Cancer Institute and Hospital National;

    Tianjin Novcare Biotech. Ltd.Tianjin China;

    Cancer Molecular Diagnostics Core Tianjin Medical University Cancer Institute and Hospital;

    Cancer Molecular Diagnostics Core Tianjin Medical University Cancer Institute and Hospital;

    The Second Department of Breast CancerTianjin Medical UniversityTianjin China;

    Department of OncologyTengzhou Central People's HospitalTengzhou P.R. China;

    Department of Breast SurgeryHebei Province Cangzhou Hospital of Integrated Traditional and Western;

    Cancer Prevention Center Tianjin Medical University Cancer Institute and Hospital National;

    Cancer Prevention Center Tianjin Medical University Cancer Institute and Hospital National;

    Tianjin Novcare Biotech. Ltd.Tianjin China;

    Department of MedicineIcahn School of Medicine at Mount SinaiNew York NY;

    Analyses Technology Co. Ltd.Beijing China;

    Cancer Prevention Center Tianjin Medical University Cancer Institute and Hospital National;

    Cancer Molecular Diagnostics Core Tianjin Medical University Cancer Institute and Hospital;

    Cancer Molecular Diagnostics Core Tianjin Medical University Cancer Institute and Hospital;

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  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类 医学遗传学;
  • 关键词

    breast cancer; next‐generation sequencing; predisposition gene; germline mutation; clinical–pathological features;

    机译：乳腺癌;下一代测序;易感性基因;种系突变;临床病理特征;

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