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本文引用的文献

1
Interaction Landscape of Inherited Polymorphisms with Somatic Events in Cancer.癌症中遗传性多态性与体细胞事件的相互作用图谱
Cancer Discov. 2017 Apr;7(4):410-423. doi: 10.1158/2159-8290.CD-16-1045. Epub 2017 Feb 10.
2
SNP variants at the MAP3K1/SETD9 locus 5q11.2 associate with somatic PIK3CA variants in breast cancers.位于5q11.2的MAP3K1/SETD9基因座处的单核苷酸多态性(SNP)变异与乳腺癌中的体细胞PIK3CA变异相关。
Eur J Hum Genet. 2017 Feb;25(3):384-387. doi: 10.1038/ejhg.2016.179. Epub 2016 Dec 28.
3
Systematic genetic analysis identifies Cis-eQTL target genes associated with glioblastoma patient survival.系统遗传学分析确定与胶质母细胞瘤患者生存相关的顺式表达数量性状基因座(Cis-eQTL)靶基因。
PLoS One. 2014 Aug 18;9(8):e105393. doi: 10.1371/journal.pone.0105393. eCollection 2014.
4
A systematic review of cancer GWAS and candidate gene meta-analyses reveals limited overlap but similar effect sizes.一项癌症 GWAS 和候选基因荟萃分析的系统回顾显示,两者的重叠有限,但效应大小相似。
Eur J Hum Genet. 2014 Mar;22(3):402-8. doi: 10.1038/ejhg.2013.161. Epub 2013 Jul 24.
5
Cancer genome landscapes.肿瘤基因组图谱。
Science. 2013 Mar 29;339(6127):1546-58. doi: 10.1126/science.1235122.
6
Integrative eQTL-based analyses reveal the biology of breast cancer risk loci.基于整合 eQTL 的分析揭示了乳腺癌风险位点的生物学特性。
Cell. 2013 Jan 31;152(3):633-41. doi: 10.1016/j.cell.2012.12.034.
7
Functional EGFR germline polymorphisms may confer risk for EGFR somatic mutations in non-small cell lung cancer, with a predominant effect on exon 19 microdeletions.功能性 EGFR 种系多态性可能会导致非小细胞肺癌中 EGFR 体细胞突变的风险增加,其主要影响是外显子 19 缺失。
Cancer Res. 2011 Apr 1;71(7):2423-7. doi: 10.1158/0008-5472.CAN-10-2689. Epub 2011 Feb 3.
8
Somatic and germline genetics at the JAK2 locus.JAK2基因座的体细胞遗传学和生殖系遗传学。
Nat Genet. 2009 Apr;41(4):385-6. doi: 10.1038/ng0409-385.
9
A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms.一种生殖系JAK2单核苷酸多态性与JAK2(V617F)阳性骨髓增殖性肿瘤的发生易感性相关。
Nat Genet. 2009 Apr;41(4):455-9. doi: 10.1038/ng.342. Epub 2009 Mar 15.
10
Mapping the cancer genome. Pinpointing the genes involved in cancer will help chart a new course across the complex landscape of human malignancies.绘制癌症基因组图谱。确定参与癌症的基因将有助于在人类恶性肿瘤的复杂领域中规划一条新的路线。
Sci Am. 2007 Mar;296(3):50-7.

生殖系中的常见基因变异会影响肿瘤发生的位置和方式。

Common genetic variation in the germline influences where and how tumors develop.

作者信息

Carter Hannah, Ideker Trey

机构信息

Department of Medicine, Division of Medical Genetics, University of California San Diego, La Jolla, CA, USA.

Moores Cancer Center, University of California San Diego, La Jolla, CA, USA.

出版信息

Mol Cell Oncol. 2017 Mar 10;4(3):e1302905. doi: 10.1080/23723556.2017.1302905. eCollection 2017.

DOI:10.1080/23723556.2017.1302905
PMID:28616579
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5462515/
Abstract

Germline variation contributes to individual risk for developing specific types of cancer. Analyzing thousands of tumors, we found evidence that the germline also influences vulnerable tissue sites and the mutations that arise in tumor genomes. These associations provide new clues to unravel the biologic mechanisms underlying cancer predisposition.

摘要

种系变异会增加个体患特定类型癌症的风险。通过分析数千个肿瘤样本,我们发现有证据表明种系也会影响易患肿瘤的组织部位以及肿瘤基因组中出现的突变。这些关联为揭示癌症易感性背后的生物学机制提供了新线索。