Genome-wide association studies (GWAS) have led to the identification of more than 100 common, low-penetrance loci for cancer. At these loci, common genetic variants are associated with moderate increases in risk, typically <1.5-fold. Almost all loci lie in genomic regions not previously suspected to be involved in cancer. A plausible functional basis for a few loci, such as FGFR2 for breast cancer and MSMB for prostate cancer, has been elucidated, but the majority are not understood and suggest new mechanisms of carcinogenesis. Most loci are specific to a single cancer type, and are often subtype specific (e.g. ER-positive breast cancer). There are notable differences in the genetic architecture for different cancer types, with a greater contribution of common variants for prostate cancer. The clinical utility of variants to predict individual disease risk of disease is currently limited, but this may change as more variants are identified.

中文翻译：

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常见癌症的全基因组关联研究——我们学到了什么？

全基因组关联研究 (GWAS) 已经确定了 100 多个常见的低外显率癌症位点。在这些位点，常见的遗传变异与风险的适度增加有关，通常<1.5 倍。几乎所有基因座都位于以前不怀疑与癌症有关的基因组区域。已经阐明了一些位点的合理功能基础，例如用于乳腺癌的 FGFR2 和用于前列腺癌的 MSMB，但大多数未被理解并提出了新的致癌机制。大多数基因座对单一癌症类型具有特异性，并且通常具有亚型特异性（例如 ER 阳性乳腺癌）。不同癌症类型的遗传结构存在显着差异，前列腺癌常见变异的贡献更大。