Abstract PR19: Interrogating the molecular profile of solid tumors in Puerto Rican Hispanics: Defining actionable mutations and drivers of carcinogenesis
Authors: Lynch Camila Rivera , Centeno-Girona Hilmaris , Soto-Salgado Marievelisse , Rivera Noridza , Cruz-Correa Marcia 
Published: December 2020

Cancer is the leading cause of morbidity and mortality in Puerto Rico (PR). The development of novel, comprehensive, and more accessible methods for interrogating tumors, including next-generation sequencing (NGS) to profile tumors, opened a window into the drivers of mutations in oncologic patients. Although some studies have been done among Caucasian and European patients, comprehensive genetic profiling of cancer patients in PR has not been performed. A retrospective study design with data from the CARIS Life Sciences database will be used to: 1) Estimate the prevalence of somatic molecular profile and immunogenicity status of solid tumors from 700 Puerto Rican Hispanics (PRH) that underwent NGS testing from 2015 to 2020; 2) Examine actionable mutations in solid tumors, such as KRAS, BRAF, NRAS, APC, P53, EGFR, FGFR, ALK, HER2, ATM, BRCA, BRCA2, among others; and 3) Compare the somatic mutational profile from the PRH cancer patients with non-Hispanics cancer patients using the CARIS Life Sciences NGS mutational profile. Descriptive statistics will be performed to characterize the database. For categorical variables, frequencies, percentages, and 95% confidence intervals will be calculated. For continuous variables, mean, median, and standard deviation will be used. Pearson Chi-square tests will be used to evaluate differences. The primary outcome will be to estimate the prevalence of tumor biomarkers, including gene mutations, protein expression, and function by tumor type (colon, gastric, prostate, breast, among others). Stratification by carcinogenic pathways will be completed examining the most common carcinogenic pathways, including Wnt signaling, homologous recombinant deficiency, mismatch repair system, EGFR/RAS/MEK, and others. Key tumor alterations in PRH tumors will be compared with other non-Hispanic tumors from the national CARIS database. Determination of prevalence of biomarkers in the PR Hispanic tumors will guide comparison for non-Hispanics tumors. Actionable mutations/alterations will be prioritized, including oncogenes, tumor suppressor genes, and immunogenicity, as those are key for targetable treatment in precision oncology. A detailed description of how these tumor profiles differ will change the way clinicians manage cancer patients in Puerto Rico. Precision oncology requires a deep understanding of the carcinogenic drivers of disease, including key oncogenes, gene overexpression, fusions, immunogenicity, and others, to help guide targeted therapies. Understanding the most common carcinogenic molecular pathways that affect PRH with solid tumors is crucial to guide research efforts in the discovery and therapeutic modalities. Furthermore, this preliminary review of the oncogenic drivers in PRH will inform clinicians, scientists, and health policy stakeholders about actionable mutations to guide education, research, and health policy efforts.

Citation Format: Camila Rivera Lynch, Hilmaris Centeno-Girona, Marievelisse Soto-Salgado, Noridza Rivera, Marcia Cruz-Correa. Interrogating the molecular profile of solid tumors in Puerto Rican Hispanics: Defining actionable mutations and drivers of carcinogenesis [abstract]. In: Proceedings of the AACR Virtual Conference: Thirteenth AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2020 Oct 2-4. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2020;29(12 Suppl):Abstract nr PR19.