Article
Unexpected double-hit BRCA1/BRCA2 somatic mutations in a sporadic endometrioid ovarian carcinoma.
Molecular biology reports - 26 Feb 2026
Ammous-Boukhris Nihel, Abdelmaksoud-Dammak Rania, Feki Ameni, Kridis Wala Ben, Khanfir Afef, Gargouri Ali, Mokdad-Gargouri Raja
Abstract excerpt
BACKGROUND: Pathogenic variants in BRCA1 and BRCA2 are well known drivers of homologous recombination deficiency in ovarian carcinoma. Somatic BRCA mutations are observed in a minority of ovarian cancers. The co-occurrence of both BRCA1 and BRCA2 pathogenic somatic mutations in a single tumor is rare, and to our knowledge this has not been described in endometrioid ovarian carcinoma. We describe a case of...
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