DCEG- GWAS Studies

DCEG-GWAS 研究

基本信息

批准号：
10329732
负责人：
LEONARD FREEDMAN
金额：
$ 805.99万
依托单位：
LEIDOS BIOMEDICAL RESEARCH, INC.
依托单位国家：
美国
项目类别：
财政年份：
2020
资助国家：
美国
起止时间：
2020-08-31 至 2021-08-30
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/10329732
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 large datasets 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.

癌症遗传易感性标记 (CGEMS) 项目始于 2005 年，作为一项为期 3 年的试点研究，旨在确定前列腺癌和乳腺癌的遗传性遗传易感性 (cgems.cancer.gov)，现已发展成为一项涉及全基因组的强大研究计划。 NCI 癌症部门与校外科学家合作，针对数十种不同的癌症表型进行关联研究 (GWAS)，以确定影响个体患癌症风险的常见遗传变异。流行病学和遗传学 (DCEG) 对主要由该部门研究的常见和/或高致命性癌症进行了全基因组扫描，该扫描主要依靠 NCI 联盟的数据以及通过扫描生物样本进行的病例对照流行病学合作研究。通过从参与这些队列或病例对照研究的个体中收集 DNA，科学家们发现了与癌症风险相关的常见遗传变异，这些变异可能会导致新的预防、诊断和治疗干预措施。大数据集的汇集提供了统计能力。量化与特定基因变异和暴露相关的风险，并进行子集分析，揭示基因-基因和基因-环境相互作用。研究人员正在对这些扫描识别的区域或基因座应用精细绘图和深度测序技术，以查明特定的功能。最终，这些研究的结果可能会产生新的癌症预防、诊断和治疗干预措施。