Article
High detection rate from genetic testing in BRCA-negative women with familial epithelial ovarian cancer.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2022
Flaum Nicola, Crosbie Emma J, Edmondson Richard, Woodward Emma R, Lalloo Fiona, Smith Miriam J, Schlecht Helene, Evans D Gareth
Abstract excerpt
PURPOSE: Epithelial ovarian cancer (EOC) is associated with pathogenic variants (PVs) in homologous recombination and/or mismatch repair genes. We aimed to review the testing of women with familial EOC at our center. METHODS: Women with familial EOC (≥2 EOC in family, including index case) referred to our center between 1993 and 2021 were included. Genetic testing (BRCA/Lynch syndrome screening, exome sequencing,...
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