Loay Kassem: Study Reveals BRCA Mutation Rates in Egyptian Women with Breast or Ovarian Cancer
Loay Kassem, Assistant Professor of Clinical Oncology at Kasr AlAiny School of Medicine, shared a post on LinkedIn:
“Up to one in five Egyptian women with breast or ovarian cancer could be a carrier of a BRCA mutation. Our recent study reveals which mutations.
Our latest research, just published in ESMO Open, analyzed BRCA mutations in over 1,400 Egyptian women with breast and ovarian cancer. Here’s what we found:
- High prevalence: 20% carry a pathogenic BRCA mutation, a rate comparable to Western countries.
- Unique genetic profile: The most common mutations in Egypt are population-specific, with the closest resemblance to Iberian Peninsula populations (Andalusia).
None of the well-known Ashkenazi Jewish founder mutations were detected. - High rate of VUS: Many variants remain of uncertain significance, reflecting the lack of genetic data from Egypt and the Middle East.
To address this gap, our team developed a new method combining functional assays and bioinformatics to reclassify these VUS. We could successfully reclassify 60% of them.
Proud to have worked with this great team: Hamdy Azim Kyrillus Shohdy Boules Gabriel, MD, MBA, MRCP SCE, MSc Oncology Shaimaa Lasheen Emad Barsoum Hagar ElGhazawy, Tamer Elnahas.”
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