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全基因组时代的癌症遗传关联研究。

Cancer genetic association studies in the genome-wide age.

作者信息

Savage Sharon A

机构信息

Clinical Genetics Branch, Division of Cancer, Epidemiology and Genetics, National Cancer Institute, 6120 Executive Blvd, EPS/7018, Rockville, MD 20892, USA, Tel.: +1 301 496 5785, ,

出版信息

Per Med. 2008 Nov 1;5(6):589-597. doi: 10.2217/17410541.5.6.589.

DOI:10.2217/17410541.5.6.589
PMID:19727433
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2659339/
Abstract

Genome-wide association studies of hundreds of thousands of SNPs have led to a deluge of studies of genetic variation in cancer and other common diseases. Large case-control and cohort studies have identified novel SNPs as markers of cancer risk. Genome-wide association study SNP data have also advanced understanding of population-specific genetic variation. While studies of risk profiles, combinations of SNPs that may increase cancer risk, are not yet clinically applicable, future, large-scale studies will make individualized cancer screening and prevention possible.

摘要

对数以十万计的单核苷酸多态性(SNP)进行的全基因组关联研究,引发了大量关于癌症及其他常见疾病遗传变异的研究。大型病例对照研究和队列研究已确定了新的SNP作为癌症风险标志物。全基因组关联研究的SNP数据也增进了对人群特异性遗传变异的理解。虽然对风险概况(可能增加癌症风险的SNP组合)的研究尚未在临床上应用,但未来的大规模研究将使个性化癌症筛查和预防成为可能。

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本文引用的文献

1
False-positive results in cancer epidemiology: a plea for epistemological modesty.癌症流行病学中的假阳性结果:呼吁认识论上的谦逊。
J Natl Cancer Inst. 2008 Jul 16;100(14):988-95. doi: 10.1093/jnci/djn191. Epub 2008 Jul 8.
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Population substructure and control selection in genome-wide association studies.全基因组关联研究中的群体亚结构与对照选择
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Polygenes, risk prediction, and targeted prevention of breast cancer.多基因、风险预测与乳腺癌的靶向预防
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Multiple loci with different cancer specificities within the 8q24 gene desert.8q24基因荒漠区内多个具有不同癌症特异性的基因座。
J Natl Cancer Inst. 2008 Jul 2;100(13):962-6. doi: 10.1093/jnci/djn190. Epub 2008 Jun 24.
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Five genetic variants associated with prostate cancer.与前列腺癌相关的五种基因变异。
N Engl J Med. 2008 Jun 19;358(25):2740-1; author reply 2741.
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Five genetic variants associated with prostate cancer.与前列腺癌相关的五种基因变异。
N Engl J Med. 2008 Jun 19;358(25):2739-40; author reply 2741.
7
Five genetic variants associated with prostate cancer.与前列腺癌相关的五种基因变异。
N Engl J Med. 2008 Jun 19;358(25):2740; author reply 2741.
8
Five genetic variants associated with prostate cancer.与前列腺癌相关的五种基因变异。
N Engl J Med. 2008 Jun 19;358(25):2740; author reply 2741.
9
Five genetic variants associated with prostate cancer.与前列腺癌相关的五种基因变异。
N Engl J Med. 2008 Jun 19;358(25):2739; author reply 2741.
10
Five genetic variants associated with prostate cancer.与前列腺癌相关的五种基因变异。
N Engl J Med. 2008 Jun 19;358(25):2738-9; author reply 2741.