Esophageal cancer genetic project

食管癌基因工程

• 批准号: 8763665
• 负责人: Philip Taylor
• 金额: $ 33.54万
• 依托单位: DIVISION OF CANCER EPIDEMIOLOGY AND GENETICS
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/8763665
• 关键词: Area; Biological Specimen Banks; Blood; Blood specimen; Cancer-Predisposing Gene; Case-Control Studies; Cells; County; DNA; Disease; Etiology; Family; Family Study; Fingers; Genetic; Genetic Markers; Genetic Polymorphism; Genomics; Goals; Hot Spot; Individual; Lesion; Malignant Neoplasms; Malignant neoplasm of esophagus; Microsatellite Repeats; Molecular; Normal Range; Population; Premalignant; Risk; Role; Sampling; Specimen; Testing; Venous; cancer genetics; candidate marker; density; esophageal cancer prevention; gene environment interaction; genome wide association study; high risk; malignant stomach neoplasm; stomach cardia; tumor

The overall goal of this project is to understand the role of genetics in the etiology and prevention of esophageal cancer and gastric cancer. Five different but complementary approaches have been used to identify esophageal cancer susceptibility genes. First, a tumor/nontumor study has been conducted in which a biological specimen bank consisting of samples (tumor, nontumor, venous blood, finger stick blood, and buccal cells) from several hundred cases of esophageal cancer and gastric cancer (both cardia and body) was developed in Taiyuan for the identification of esophageal cancer and gastric cancer susceptibility genes and potential early genetic markers of these cancers. High-density genome-wide scans with microsatellite markers have been conducted to identify potential hot spots, and further testing of these hot spots and other candidate markers in additional tumor/nontumor samples is in progress. Premalignant morphologic lesions will also be examined. Second, blood samples for DNA have been collected from several hundred healthy individuals from high-risk (Yangcheng County) and low-risk (Beijing) areas to examine potential population differences in polymorphisms for selected genomic markers. Third, a large case-control study with cases of esophageal cancer and gastric cancer (both cardia and body) has been conducted and is being used to evaluate polymorphisms in the candidate markers identified in other components of this project, and to evaluate gene-environment interactions. Fourth, a family study is in progress which will permit linkage of candidate markers with cancer in families having 2 or more cases with esophageal cancer or gastric cancer. Finally, an endoscopic study is being conducted to obtain specimens from a morphologic spectrum of disease ranging from normal to early invasive esophageal cancer in order to characterize molecular progression.

该项目的总体目标是了解遗传学在食管癌和胃癌的病因和预防中的作用。已使用五种不同但互补的方法来识别食管癌易感基因。首先，进行了肿瘤/非肿瘤研究，其中生物样本库由来自数百例食道癌和胃癌（贲门癌和体癌）的样本（肿瘤、非肿瘤、静脉血、指尖血和口腔细胞）组成。 ）在太原开发，用于鉴定食管癌和胃癌的易感基因以及这些癌症的潜在早期遗传标记。已经使用微卫星标记进行了高密度全基因组扫描，以识别潜在的热点，并且正在对其他肿瘤/非肿瘤样本中的这些热点和其他候选标记进行进一步测试。还将检查癌前形态学病变。其次，从高风险（阳城县）和低风险（北京）地区的数百名健康个体中采集了 DNA 血液样本，以检查所选基因组标记多态性的潜在人群差异。第三，一项针对食管癌和胃癌（贲门癌和体癌）病例的大型病例对照研究已经进行，并用于评估本项目其他部分中确定的候选标记物的多态性，并评估基因环境互动。第四，一项家庭研究正在进行中，该研究将允许在有 2 个或更多食管癌或胃癌病例的家庭中将候选​​标记物与癌症联系起来。最后，正在进行内窥镜研究，从正常食管癌到早期浸润性食管癌的疾病形态谱中获取标本，以表征分子进展。