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, 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. Genetic analysis through WES, performed on DNA extracted from blood samples, revealed recurrent variants in several non-canonical cancer-related genes, including CTBP2, IGSF3, LRRK2, ZNF334, NMNAT1, and TPRG1. Notably IGSF3 and CTBP2 exhibited common mutations across all patients. These findings highlight the genetic diversity and potential molecular drivers of TNBC in this cohort.
Conclusion: This study provides insights into the genetic landscape of TNBC in Moroccan patients. The study highlights novel genetic variations 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. Further research in larger cohorts is needed to validate these findings and develop personalized therapeutic approaches for TNBC patients.
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