DCEG- GWAS Studies

DCEG-GWAS 研究

基本信息

批准号：
10038401
负责人：
LEONARD FREEDMAND
金额：
$ 715.44万
依托单位：
LEIDOS BIOMEDICAL RESEARCH, INC.
依托单位国家：
美国
项目类别：
财政年份：
2019
资助国家：
美国
起止时间：
2019-08-31 至 2020-08-30
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/10038401
关键词：
Affect Biological Cancer Intervention Case-Control Studies Cohort Studies Collaborations Complex DNA Data Data Set Diagnostic Disease Division of Cancer Epidemiology and Genetics Ensure Extramural Activities Genes Genetic Markers Genetic Predisposition to Disease Genome Scan Genomics Individual Inherited Institutes Lead Malignant Neoplasms Malignant neoplasm of prostate Persons Phenotype Pilot Projects Population Study Predisposition Preventive Private Sector Research Research Personnel Resources Risk Scanning Scientist Series Techniques Therapeutic Intervention United States National Institutes of Health Variant cancer genetics cancer risk case control data access deep sequencing disorder risk epidemiology study gene environment interaction genetic variant genome wide association study malignant breast neoplasm programs trait

项目摘要

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.

癌症易感性（CGEMS）项目的癌症遗传标记项目始于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癌和乳腺癌（CGEMS.CANCER.GOV）。 CGEM已发展为涉及数十种不同癌症表型的全基因组关联研究（GWASS）的强大研究计划，以识别影响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。研究人员正在将精细映射和深层测序技术应用于区域或通过这些扫描本地化，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。