Somatic Mutation Profiling and Therapeutic Landscape of Breast Cancer in the MENA Region.

ABSTRACT: Breast cancer remains a major global health challenge. Yet, genomic data from Middle Eastern and North African (MENA) populations are limited, restricting insights into disease drivers and therapeutic opportunities in this demographic. To address this gap, we performed whole-exome sequencing (WES) on 52 breast cancer samples, including 51 from the MENA region, to characterize somatic mutations and potential therapeutic targets. Across the cohort, 37,369 somatic variants matched entries in the COSMIC database, and driver prediction tools (BoostDM and OncodriveMUT) identified 2451 predicted driver mutations, including 648 known driver variants in genes such as TP53, PIK3CA, GATA3, PTEN, SF3B1, and KMT2C. In addition, 1803 novel predicted drivers were detected, many affecting DNA repair pathw

SUBMITTER: Velayutham D 

PROVIDER: S-EPMC12651733 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature