Grant Number:	5P01CA272239-03 Interpret this number
Primary Investigator:	Schwartz, Ann
Organization:	Wayne State University
Project Title:	Genetic Variation in Cancer Risk and Outcomes in African Americans
Fiscal Year:	2026

Genetic testing for both germline and somatic mutations has improved our understanding of the basic biology of carcinogenesis, identified high-risk populations for targeted prevention and screening, identified targets for new treatment strategies, and has led to some of the most significant inroads in reducing cancer burden. Yet, there is still much to learn about the role of inherited genetic susceptibility and cancer, and the significant barriers to getting genetic counseling. We have assembled one of the largest populations of African American cancer survivors to date to study genetic susceptibility in this population. The Detroit Research on Cancer Survivors (ROCS) (U01CA199240) includes participants at high-risk due to family history, age at diagnosis or multiple primaries, and the infrastructure will be used to expand participation. The Program includes three projects and two cores with an overall goal of improving the identification and clinical management of hereditary and multiple primary cancers in African Americans. To do this we will: 1) Use bioinformatic analyses, family structure, gene expression, and somatic alterations to identify African American cancer survivors most likely to harbor high-penetrance genetic variants currently classified as pathogenic or having uncertain significance; 2) Characterize the spectrum of germline genetic variation in African Americans with multiple primary cancers in relation to known pathogenic mutations, VUS, race- and site-specific polygenic risk scores (PRS), environmental exposures, medical history and health behaviors; and 3) Develop a self-paced educational intervention to increase access to genetic counseling services among African Americans and increase informed decision-making about genetic testing so that we are poised to translate novel genetic discoveries into clinical practice.