GWAS Studies

癌症易感性遗传标记（CGEMS）项目始于2005年，是一项为期3年的试点研究，旨在确定前列腺癌和乳腺癌的遗传易感性。CGEMS已经发展成为一个强大的研究项目，涉及对数十种不同癌症表型的全基因组关联研究（GWASs），以确定影响个体患癌症风险的常见遗传变异。NCI癌症流行病学和遗传学部（DCEG）与校外科学家合作，对该部门广泛研究的常见和/或高致命性癌症进行了全基因组扫描。CGEMS依赖于NCI联盟的数据以及生物标本的病例对照流行病学合作研究。通过扫描从参与这些队列或病例对照研究的个体收集的DNA，科学家们已经确定了与癌症风险相关的常见遗传基因变异，这可能导致新的预防、诊断和治疗干预措施。大数据集的汇集提供了量化与特定基因变异和暴露相关的风险的统计能力，并使揭示基因-基因和基因-环境相互作用的子集分析成为可能。研究人员正在对这些扫描确定的区域或位点应用精细测绘和深度测序技术，以查明导致疾病风险的特定功能变异及其所涉及的生物学机制。最终，这些研究的发现可能会产生新的癌症预防、诊断和治疗干预措施。

The Cancer Genetic Markers of Susceptibility (CGEMS) project began in 2005 as a 3-year pilot study to identify inherited genetic susceptibility to prostate and breast cancer (cgems.cancer.gov). CGEMS has developed into a robust research program involving genome-wide association studies (GWASs) for dozens of different cancer phenotypes to identify common genetic variants that affect an individual’s risk of developing cancer. In collaboration with extramural scientists, NCI's Division of Cancer Epidemiology and Genetics (DCEG) has carried out genome-wide scans for common and/or highly lethal cancers extensively studied by the Division. CGEMS relies upon data from the NCI Consortium as well as collaborative case-control epidemiologic studies with biospecimens. By scanning the DNA collected from individuals participating in these cohort or case-control studies, scientists have identified common inherited genetic variants associated with cancer risk that may lead to new preventive, diagnostic, and therapeutic interventions. The pooling of large data sets provides the statistical power to quantify the risks associated with specific gene variants and exposures, and enables subset analyses that uncover gene-gene and gene-environment interactions. Researchers are applying fine-mapping and deep sequencing techniques to regions or loci identified by these scans to pinpoint the specific functional variants responsible for disease risk and the biologic mechanisms involved. Ultimately, findings from these studies may yield new preventive, diagnostic, and therapeutic interventions for cancer.