Review highlights distinct genomic and epigenomic alterations in MENA breast cancer cohorts, indicating a need for ancestry-aware precision oncology.
Key Points
Summarize current evidence on somatic, germline, transcriptomic, and epigenomic variations in breast cancer between Western and MENA populations to guide regional precision oncology.
Reviewed molecular profiling data across Western and Middle East/North Africa (MENA) cohorts, with a primary focus on Saudi Arabia.
Synthesized curated somatic and germline data from a previous systematic review of over 2,500 MENA cases across 44 studies alongside regional single-center datasets.
TP53 and PIK3CA accounted for approximately 24% and 10% of pooled somatic mutation calls across 44 MENA studies, respectively.
In a single-center Saudi cohort, 3.7% of patients underwent BRCA testing, with 37.5% of this referred subgroup carrying a pathogenic variant, while variants of uncertain significance exceeded 20% across several regional genomic studies.
Regional cohorts demonstrated distinct biological features including unique loss-of-function variants, high copy-number burden, and emerging immune-enriched and basal-myo transcriptomic patterns that lack statistical significance and require larger validation studies.