Unveiling the Genomic Landscape: Architectural Insights into Triple-Negative Breast Cancer in Moroccan Patients Through Whole-Exome Sequencing

Abstract

Background: Triple-negative breast cancer (TNBC) is a highly aggressive subtype of breast cancer characterized by the absence of hormone receptors and HER2 expression, resulting in limited treatment options and poorer prognoses. This study investigates the genetic landscape of TNBC in Moroccan patients through high-throughput whole-exome sequencing (WES) to identify genetic alterations that could enhance diagnostic accuracy and inform targeted therapies. Case Presentation: This study included 10 unrelated Moroccan female patients diagnosed with TNBC, recruited from the National Institute of Oncology in Rabat, Morocco. Clinical data, including tumor location, Scarff-Bloom-Richardson (SBR) grade, histological type, lymph node involvement, and Ki-67 index, were collected. Tumor grades varied from SBR grade II to IV, with some cases demonstrating metastasis to distant organs. The Ki-67 index ranged from 10% to 80%, indicating a range of tumor proliferative activity across the cohort. Conclusion: This study provides insights into the genetic landscape of TNBC in Moroccan patients. It highlights novel genetic variants in CTBP2, IGSF3, ZNF334, TPRG1, and NMNAT1, suggesting their potential as biomarkers and therapeutic targets for TNBC. These findings emphasize the importance of investigating genetic alterations in underrepresented populations, which could help refine treatment strategies and predict treatment responses.