Article
Identifying a Recurrent BRCA1 Variant in the Qatari Population With Unique Genotype-Phenotype Correlations.
Molecular genetics & genomic medicine - 1 Jan 2026
Bujassoum Al-Bader Salha, Al-Mulla Hajer, Al-Habish Hind, Kusasi Sitti, Abduo Nema, Bakheet Nawal, Ghazouani Hafedh, Sidenna Mariem, Abbaszadeh Fatemeh, Alsulaiman Reem
Abstract excerpt
BACKGROUND: Hereditary breast and ovarian cancer syndrome (HBOC) is the most common cause of hereditary breast and ovarian cancers in Qatar and worldwide, which is caused by pathogenic variants in the BRCA1 and BRCA2 genes. The aim of this retrospective study is to describe a common recurrent pathogenic variant in the BRCA1 gene that was observed in the native Qatari population with unique genotype-phenotype...
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