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，涉及针对多种癌症的全基因组关联研究（GWASs），以确定影响一个人患癌症风险的常见基因变异。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。

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 has developed into a robust research program involving genome-wide association studies (GWASs) for a number of cancers to identify common genetic variants that affect a person'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. In the future, researchers will apply 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.