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

Johns Hopkins University, Baltimore MD

Investigators

Abstract

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.