Abstract PO-130: Molecular profiling of tumor mutations in PR Hispanics with cancer: Moving towards oncology precision medicine

Abstract

Abstract Background: Molecular profiling techniques such as next-generation sequencing to identify somatic mutations in tumors from oncologic patients allows physicians to have a better understanding of the tumor carcinogenic pathway and thus design therapeutic treatment strategies. The objective of our study was to provide data on the results of a sample of Puerto Rican patients with solid tumors and identify the prevalence of genetic mutations. Methods: We conducted a single-institution clinical study based on results of molecular tumor profiling of 592 known mutations using next-generation sequencing testing (CARIS Life Sciences). Mutations in actionable genes were highlighted as they have current or developing molecular therapies for oncology patients. Results: Tumors from a sample population of 50 Puerto Rican patients were evaluated using CARIS Life Science testing. The median age of our study population was 55 (range 21-84) with 54% (27) males and 46% (23) females. The primary tumor sites found among the population were in colorectal (n=24), gastric (n=5), breast (n=4), lung (n=3), unknown (n=3) bladder (n=1), bile duct (n=1), pancreas (n=1), endometrial (n=1), ovarian (n=1), Hypopharynx (n=1) kidney (n=1), ovarian (n=1), pancreas (n=1), prostate (n=1), spine (n=1), tongue (n=1), and Tonsillar Pillar (n=1). Mutations were found in multiple signaling pathways: Cell cycle control, Chromatin Remodeling/DNA Methylation, DNA Damage and Repair, G Protein Signaling, MAPK Signaling, PI3K/Akt Signaling, RNA Splicing, and Wnt / β-Catenin Signaling. Discussion: Molecular profiling techniques such as next-generation sequencing has allowed for massive parallel sequencing of the human genome to further study the cancer genome. From this sample population of Puerto Rican patients with cancer, we have found a high prevalence of TP53, APC, and KRAS mutations, with less predominance of EGFR and HRD pathway mutations. Novel therapies targeting specific pathways require understanding the somatic mutation profile to establish precision medicine and improve therapeutic responses. Acknowledgments: Pan American Center for Oncology Trials Citation Format: Aida M. Rodriguez Hernandez, Sariemma Mendez Rodriguez, Gabriela Torres Torres, Marcia Cruz Correa. Molecular profiling of tumor mutations in PR Hispanics with cancer: Moving towards oncology precision medicine [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 PO-130.