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.

中文翻译：

---

全基因组癌症关联研究：当前的见解和未来的观点

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不可知的方法。在肿瘤学中，几乎所有常见恶性肿瘤的GWAS均已被执行，并且已鉴定出450多种与风险增加相关的遗传变异。这些研究除了揭示在致癌作用中重要的新途径外，还表明常见的遗传变异对许多常见癌症的遗传风险做出了重大贡献。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。但是，破译协会的功能和生物学基础具有挑战性，并且在一定程度上是完全释放GWAS潜力的障碍。