GWAS Studies

GWAS研究

• 批准号: 8241814
• 负责人: DAVID HEIMBROOK
• 金额: $ 653.06万
• 依托单位: LEIDOS BIOMEDICAL RESEARCH, INC.
• 依托单位国家: 美国
• 财政年份: 2008
• 资助国家: 美国
• 起止时间: 2008-09-26 至 2018-09-25
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8241814
• 关键词: Affect; Case-Control Studies; Collaborations; Complex; DNA; Data; Data Set; Diagnostic; Disease; Ensure; Epidemiologic Studies; Extramural Activities; Future; Genes; Genetic Markers; Genetic Predisposition to Disease; Genetic Variation; Genomics; Individual; Inherited; Institutes; Lead; Malignant Neoplasms; Malignant neoplasm of prostate; Maps; Persons; Pilot Projects; Predisposition; Preventive; Private Sector; Research; Research Personnel; Resources; Risk; Scanning; Scientist; Series; Techniques; Therapeutic Intervention; United States National Institutes of Health; Variant; cancer epidemiology; cancer genetics; cancer risk; case control; cohort; disorder risk; gene environment interaction; genetic variant; genome wide association study; malignant breast neoplasm; population based; programs; trait

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.

癌症易感性（CGEM）项目的癌症遗传标记始于2005年，是一项为期3年的初步研究，旨在识别遗传遗传易感性对前列腺和乳腺癌的敏感性。 CGEM已发展为一项涉及全基因组关联研究（GWASS）的强大研究计划，用于许多癌症，以识别影响一个人患癌症风险的常见遗传变异。 NCI的癌症流行病学和遗传学（DCEG）与校外科学家合作进行了全基因组的扫描，对该部门广泛研究了常见和/或高度致命的癌症。 CGEM依赖于​​NCI财团的数据以及与生物测量的协作病例对照研究。通过扫描参与这些队列或病例对照研究的个体收集的DNA，科学家已经确定了与癌症风险相关的常见遗传变异，这可能会导致新的预防，诊断和治疗性干预措施。大数据集的汇总提供了统计能力，可以量化与特定基因变异和暴露相关的风险，并实现了揭示基因基因和基因环境相互作用的子集分析。 将来，研究人员将对这些扫描确定的区域或基因座进行精细映射和深层测序技术，以查明负责疾病风险和涉及生物学机制的特定功能变体。最终，这些研究的发现可能会为癌症提供新的预防，诊断和治疗性干预措施。