{"id":40301,"date":"2026-01-29T12:25:49","date_gmt":"2026-01-29T07:25:49","guid":{"rendered":"https:\/\/menamedicalresearch.com\/news\/?p=40301"},"modified":"2026-01-29T12:33:52","modified_gmt":"2026-01-29T07:33:52","slug":"breast-cancer-in-the-mena-region-somatic-mutation-profiling-and-therapeutic-landscape","status":"publish","type":"post","link":"https:\/\/menamedicalresearch.com\/news\/cancers\/breast-cancer-in-the-mena-region-somatic-mutation-profiling-and-therapeutic-landscape\/","title":{"rendered":"Breast Cancer in the MENA Region &#8211; Somatic Mutation Profiling and Therapeutic Landscape"},"content":{"rendered":"<p><strong>Breast cancer in the MENA region often presents at a younger age and in more advanced stages. <\/strong>While this suggests a unique biological and genetic profile in this region, the <strong>available genomic databases lack adequate data from MENA populations<\/strong> to understand the disease drivers and therapeutic opportunities specific to this demographic.<\/p>\n<p>To address this gap, <strong>researchers at Hamad Bin Khalifa University and Hamad Medical Corporation, Qatar recently conducted a comprehensive study utilizing whole-exome sequencing (WES)<\/strong> of <strong>52 breast cancer samples <\/strong>to map the somatic mutations and therapeutic landscape of breast cancer specifically within a MENA cohort.<\/p>\n<p><strong>The study found 37,369 somatic mutations that matched records in the COSMIC database,<\/strong> effectively characterising the cohort&#8217;s genetic makeup. <strong>Key findings highlighted both familiar and previously unknown genetic players:<\/strong><\/p>\n<ul>\n<li><strong>Known Drivers:<\/strong> The researchers identified 648 identified driver variations in well-known genes linked to breast cancer, including <strong><em>TP53, PIK3CA, GATA3, PTEN, SF3B1, and KMT2C<\/em>. <\/strong><em>TP53<\/em> and <em>PIK3CA<\/em> were noted as particularly frequent alterations, consistent with their global roles in tumor progression.<\/li>\n<li><strong>Novel Driver Mutations<\/strong>: The analysis uncovered <strong>1,803 novel predicted driver mutations<\/strong>. Many of these novel drivers impacted critical DNA repair pathways. <strong>Specifically, mutations were observed in genes responsible for:<\/strong>\n<ul>\n<li><strong>Homologous recombination<\/strong> (e.g., <em>BRCA2<\/em>, <em>RAD51C<\/em>)<\/li>\n<li><strong>Mismatch repair<\/strong> (e.g., <em>MLH1<\/em>, <em>MSH2<\/em>)<\/li>\n<li><strong>Nucleotide excision repair<\/strong> (e.g., <em>ERCC2<\/em>, <em>ERCC3<\/em>)<\/li>\n<\/ul>\n<\/li>\n<li><strong>Recurrent Variants:<\/strong> Five specific variants, including <strong><em>SF3B1:p.Lys700Glu<\/em> and multiple <em>TP53<\/em> mutations<\/strong>, were identified over 100 times in existing databases, marking them as<strong> significant hotspots for this population<\/strong>.<\/li>\n<\/ul>\n<p><strong>Subtype-Specific Signatures<br \/>\n<\/strong>The study also examined mutational signatures, or patterns left on the genome by various biological processes. \u00a0<strong>C&gt;T substitutions, which are frequently found in cancer genomes, were predominant in the group<\/strong>.<\/p>\n<p><strong>Subtype-specific trends were also noted by the researchers<\/strong>. For example,<strong> Luminal A tumours exhibited a distinct enrichment of the markers SBS22 and SBS43<\/strong>. Because SBS22 is frequently linked to exposure to aristolochic acid, its presence is especially noteworthy and implies that certain lifestyle or environmental factors may have an impact on the development of tumours in this population.<\/p>\n<p><strong>Therapeutic Implications<br \/>\n<\/strong>One of the most promising aspects of the study was the <strong>identification of 223 actionable or likely oncogenic variants <\/strong>using the OncoKB annotation tool, suggesting novel personalized treatment options.<\/p>\n<ul>\n<li><strong>DNA Repair Targets:<\/strong> The high frequency of mutations in DNA repair genes suggests that <strong>PARP inhibitors (such as olaparib) could be effective for a broader range of MENA patients than previously thought.<\/strong> This extends beyond those with germline <em>BRCA<\/em> mutations to those with somatic alterations in related pathways.<\/li>\n<li><strong>Targeted Therapies<\/strong>: The <strong>study also highlighted potential vulnerabilities that could be exploited by PI3K\/AKT\/mTOR inhibitors, CDK4\/6 inhibitors, and checkpoint inhibitors.<\/strong><\/li>\n<li><strong><em>SF3B1<\/em> Mutations:<\/strong> The identification of the <strong><em>SF3B1<\/em> hotspot mutation<\/strong>, though relatively rare (found in one HER2-negative patient in this cohort), <strong>aligns with global rates<\/strong> and is associated with poor outcomes, reinforcing its importance as a potential therapeutic target.<\/li>\n<\/ul>\n<p>Despite some identified limitations like small cohort size, use of archived Formalin-Fixed Paraffin-Embedded (FFPE) tissue samples, and the lack of matched normal tissue, <strong>the findings provide a foundational step toward region-specific precision oncology and personalized medicine for breast cancer patients in the MENA region.<\/strong><\/p>\n<p><em>Article edited and summarized by Diya E H<\/em><\/p>\n<p><strong>Reference Source<\/strong> Velayutham, D.; Elango, R.; Rashid, S., Al-Sarraf, R.; Akhtar, M.; Ouararhni, K.; Jithesh, P.V.; Alajez, N.M. Somatic Mutation Profiling and Therapeutic Landscape of Breast Cancer in the MENA Region. <em>Cells<\/em> <strong>2025<\/strong>, <em>14<\/em>, 1791. <a href=\"https:\/\/doi.org\/10.3390\/cells14221791\">https:\/\/doi.org\/10.3390\/cells14221791<\/a>.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Breast cancer in the MENA region often presents at a younger age and in more advanced stages. While this suggests a unique biological and genetic profile in this region, the available genomic databases lack adequate data from MENA populations to understand the disease drivers and therapeutic opportunities specific to this demographic. To address this gap, &hellip;<\/p>\n","protected":false},"author":1,"featured_media":40302,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"om_disable_all_campaigns":false,"_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"footnotes":""},"categories":[39],"tags":[],"class_list":["post-40301","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-cancers"],"acf":[],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/menamedicalresearch.com\/news\/wp-json\/wp\/v2\/posts\/40301","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/menamedicalresearch.com\/news\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/menamedicalresearch.com\/news\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/menamedicalresearch.com\/news\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/menamedicalresearch.com\/news\/wp-json\/wp\/v2\/comments?post=40301"}],"version-history":[{"count":5,"href":"https:\/\/menamedicalresearch.com\/news\/wp-json\/wp\/v2\/posts\/40301\/revisions"}],"predecessor-version":[{"id":40307,"href":"https:\/\/menamedicalresearch.com\/news\/wp-json\/wp\/v2\/posts\/40301\/revisions\/40307"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/menamedicalresearch.com\/news\/wp-json\/wp\/v2\/media\/40302"}],"wp:attachment":[{"href":"https:\/\/menamedicalresearch.com\/news\/wp-json\/wp\/v2\/media?parent=40301"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/menamedicalresearch.com\/news\/wp-json\/wp\/v2\/categories?post=40301"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/menamedicalresearch.com\/news\/wp-json\/wp\/v2\/tags?post=40301"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}