Abstract B062: Prevalence of pathogenic BRCA1/2 variants among Latinas in the All of Us Cohort

Abstract

Abstract Latinas in the United States are disproportionately affected by breast cancer, but little is known about genetic risk factors for breast cancer in this population. Genetic variants in BReast CAncer genes 1 and 2 (BRCA1/2) are known to be associated with heritable cancer risk, yet the prevalence of BRCA1/2 pathogenic variants in the Latina population is not well characterized. This study aims to examine the prevalence of pathogenic BRCA1/2 variants among Latinas in the NIH All of Us research program, which includes a large number of individuals representative of the diversity of the United States population. Using data from the All of Us research program, we will analyze the prevalence of these variants among Latinas, in addition to all other racial and ethnic groups. To date, the All of Us cohort contains 245,400 genomes, and of those 41,940 (17%) are from self-identified Hispanic/Latino/or Spanish participants. We will compare the prevalence of pathogenic, or likely pathogenic, variants across self-reported race/ethnicity and continental genetic ancestry categories. Our study will leverage the diversity of All of Us and enable us to compare our data with those from more Eurocentric databases. With these data, we can potentially 1) identify novel variants that could predispose to increased cancer risk; and 2) clarify the previous designations of variants characterized to have undetermined/unknown significance due to the limitations of using a single Eurocentric reference genome. Identifying the actual prevalence of pathogenic BRCA1/2 variants among Latinas is important for improving breast cancer prevention, detection, and treatment in this population. The findings of this study have the potential to inform genetic counseling and testing recommendations for Latina patients at high risk of developing breast cancer, as well as others. This will also enable healthcare providers to better understand the unique genetic factors contributing to breast cancer risk among this population. Ultimately, this knowledge can improve the care of Latina patients and contribute to the broader effort to advance health equity and reduce disparities in breast cancer outcomes among Latinas. Citation Format: Cathy Samayoa, Erick Olivares, Catherine Gavile, Adriana Visbal. Prevalence of pathogenic BRCA1/2 variants among Latinas in the All of Us Cohort [abstract]. In: Proceedings of the 16th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2023 Sep 29-Oct 2;Orlando, FL. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2023;32(12 Suppl):Abstract nr B062.