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下一代测序技术在乳腺癌研究中的新应用。

Novel applications of next-generation sequencing in breast cancer research.

作者信息

Ma Rong, Gong Jianping, Jiang Xiaowei

机构信息

Department of Hepatobiliary Surgery, The Second Affiliated Hospital of Chongqing Medical University, Chongqing, 400010, China.

出版信息

Genes Dis. 2017 Jul 18;4(3):149-153. doi: 10.1016/j.gendis.2017.07.003. eCollection 2017 Sep.

DOI:10.1016/j.gendis.2017.07.003
PMID:30258916
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6146205/
Abstract

With the rapid development of medicine, the studies of genes have become increasingly concerned by more people and being the contend of a great of researches. The next generation sequencing with its own advantages has been widely used in gene research nowadays. It has almost replaced the traditional sequencing methods (such as Sanger sequencing method), and played an important role in a variety of complex disease researches, including breast cancer. The next generation sequencing technology has the advantages of high speed, high throughput and high accuracy. It has been widely used in various cancers (such as prostate cancer, lung cancer, pancreatic cancer, liver cancer, etc.), especially in breast cancer. Moreover, the use of the next generation sequencing technology to make DNA sequence analysis and risk prediction has made a great contribution to the research of breast cancer. We will focus on the application of whole genome sequencing, exon sequencing and targeted gene sequencing in breast cancer gene research.

摘要

随着医学的快速发展,基因研究越来越受到人们的关注,并成为众多研究的焦点。新一代测序技术凭借自身优势,如今已在基因研究中广泛应用。它几乎取代了传统测序方法(如桑格测序法),并在包括乳腺癌在内的多种复杂疾病研究中发挥了重要作用。新一代测序技术具有速度快、通量高和准确性高的优点。它已广泛应用于各种癌症(如前列腺癌、肺癌、胰腺癌、肝癌等),尤其是乳腺癌。此外,利用新一代测序技术进行DNA序列分析和风险预测,为乳腺癌的研究做出了巨大贡献。我们将重点关注全基因组测序、外显子测序和靶向基因测序在乳腺癌基因研究中的应用。

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本文引用的文献

1
Rapid and cost-effective high-throughput sequencing for identification of germline mutations of BRCA1 and BRCA2.用于鉴定BRCA1和BRCA2种系突变的快速且经济高效的高通量测序
J Hum Genet. 2017 Apr;62(5):561-567. doi: 10.1038/jhg.2017.5. Epub 2017 Feb 9.
2
A novel loss-of-function heterozygous BRCA2 c.8946_8947delAG mutation found in a Chinese woman with family history of breast cancer.在一名有乳腺癌家族史的中国女性中发现了一种新的功能丧失性杂合BRCA2基因c.8946_8947delAG突变。
J Cancer Res Clin Oncol. 2017 Apr;143(4):631-637. doi: 10.1007/s00432-016-2327-9. Epub 2017 Jan 5.
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Deep targeted sequencing of 12 breast cancer susceptibility regions in 4611 women across four different ethnicities.对来自四个不同种族的4611名女性的12个乳腺癌易感区域进行深度靶向测序。
Breast Cancer Res. 2016 Nov 5;18(1):109. doi: 10.1186/s13058-016-0772-7.
4
Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2.对家族性乳腺癌/卵巢癌患者进行基因 panel 测序发现,除 BRCA1/2 基因外,其他基因中也存在多个新突变。
Int J Cancer. 2017 Jan 1;140(1):95-102. doi: 10.1002/ijc.30428. Epub 2016 Sep 23.
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Targeted Resequencing of 30 Genes Improves the Detection of Deleterious Mutations in South Indian Women with Breast and/or Ovarian Cancers.对30个基因进行靶向重测序可提高对南印度乳腺癌和/或卵巢癌女性有害突变的检测率。
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Effect of Next-Generation Exome Sequencing Depth for Discovery of Diagnostic Variants.新一代外显子组测序深度对诊断性变异发现的影响
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An assembly and alignment-free method of phylogeny reconstruction from next-generation sequencing data.一种从下一代测序数据中重建系统发育树的无需组装和比对的方法。
BMC Genomics. 2015 Jul 14;16(1):522. doi: 10.1186/s12864-015-1647-5.
8
Understanding next generation sequencing in oncology: A guide for oncologists.肿瘤学中的下一代测序解读:肿瘤学家指南
Crit Rev Oncol Hematol. 2015 Dec;96(3):463-74. doi: 10.1016/j.critrevonc.2015.06.007. Epub 2015 Jun 29.
9
Exome sequencing in a breast cancer family without BRCA mutation.一个无BRCA突变的乳腺癌家族中的外显子组测序
Radiat Oncol J. 2015 Jun;33(2):149-54. doi: 10.3857/roj.2015.33.2.149. Epub 2015 Jun 30.
10
Needs Assessment for Research Use of High-Throughput Sequencing at a Large Academic Medical Center.大型学术医疗中心高通量测序研究用途的需求评估
PLoS One. 2015 Jun 26;10(6):e0131166. doi: 10.1371/journal.pone.0131166. eCollection 2015.