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癌症的全基因组关联研究:当前的见解和未来的展望。

Genome-wide association studies of cancer: current insights and future perspectives.

机构信息

Division of Genetics and Epidemiology, The Institute of Cancer Research.

Division of Molecular Pathology, The Institute of Cancer Research, 15 Cotswold Road, Sutton, London SM2 5NG, UK.

出版信息

Nat Rev Cancer. 2017 Nov;17(11):692-704. doi: 10.1038/nrc.2017.82. Epub 2017 Oct 13.

Abstract

Genome-wide association studies (GWAS) provide an agnostic approach for investigating the genetic basis of complex diseases. In oncology, GWAS of nearly all common malignancies have been performed, and over 450 genetic variants associated with increased risks have been identified. As well as revealing novel pathways important in carcinogenesis, these studies have shown that common genetic variation contributes substantially to the heritable risk of many common cancers. The clinical application of GWAS is starting to provide opportunities for drug discovery and repositioning as well as for cancer prevention. However, deciphering the functional and biological basis of associations is challenging and is in part a barrier to fully unlocking the potential of GWAS.

摘要

全基因组关联研究(GWAS)为研究复杂疾病的遗传基础提供了一种无偏见的方法。在肿瘤学领域,几乎所有常见恶性肿瘤的 GWAS 都已完成,已确定超过 450 种与风险增加相关的遗传变异。这些研究不仅揭示了致癌作用中重要的新途径,还表明常见遗传变异对许多常见癌症的可遗传性风险有很大贡献。GWAS 的临床应用开始为药物发现和重新定位以及癌症预防提供机会。然而,解析关联的功能和生物学基础具有挑战性,部分原因是阻碍了充分挖掘 GWAS 的潜力。

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