CIDR - UPGRADE WHOLE GENOME SEQUENCING ON 2,294 EXPERIMENTAL DNA SAMPLES FOR NCI, BEEBE-DIMMER

CIDR - 升级 NCI、BEEBE-DIMMER 2,294 个实验 DNA 样本的全基因组测序

• 批准号: 10949121
• 负责人: Kimberly F Doheny
• 金额: $ 149.85万
• 依托单位: JOHNS HOPKINS UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2023
• 资助国家: 美国
• 起止时间: 2023-08-30 至 2023-12-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10949121
• 关键词: CIDR; UPGRADE; WHOLE; GENOME; SEQUENCING

We have assembled one of the largest populations of African American cancer survivors to date to study genetic contributions underlying cancer in this high-risk population. The Detroit Research on Cancer Survivors (ROCS) study has collected survey data and biospecimens from just over 5,000 African Americans with lung, breast, prostate, colon/rectum, and endometrial cancers, and as well as any other type of cancer diagnosed under age 50. This population-based cancer cohort, identified through the Metropolitan Detroit Cancer Surveillance System (MDCSS), represents a medically underserved population with higher cancer incidence and mortality rates, and greater disparities than observed elsewhere in the United States. We propose to: 1) collaborate with CIDR to perform whole genome sequencing (WGS) of germline DNA in 2294 Detroit ROCS participants; and 2) describe the prevalence and spectrum of mutations in 33 cancer susceptibility genes commonly found on clinical cancer multigene panels in these 2294 samples. Impact: The population captured in this unique cohort, with biospecimens for nearly 3,000 African American cancer survivors already available for WES, can powerfully shed light on the underlying genetic contributors to cancer health disparities in risk and outcomes. This proposal will generate important germline sequencing data for cohort members and will allow for investigation of a set of cancer predisposition genes commonly included on clinical cancer multigene panels.

我们收集了迄今为止最大的非裔美国癌症幸存者群体之一，以研究这一高危人群中潜在癌症的遗传因素。底特律癌症幸存者研究（ROCS）研究收集了5000多名非裔美国人的调查数据和生物标本，这些人患有肺癌、乳腺癌、前列腺癌、结肠癌/直肠癌和子宫内膜癌，以及任何其他类型的癌症，年龄在50岁以下。通过大都会底特律癌症监测系统（MDCSS）确定的以人群为基础的癌症队列，代表了医疗服务不足的人群，癌症发病率和死亡率较高，与美国其他地方相比，差异更大。我们建议：1)与CIDR合作，对2294 Detroit的种系DNA进行全基因组测序（WGS）