Pathogenic mutations in ethnic Lebanese Arab patients with high risk for hereditary breast cancer

European Journal of Cancer(2022)

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摘要
Background: Breast cancer accounts for 35–40% of cancer in women in Lebanese and Arab countries with 50% of patients (pts) diagnosed before age 50. Prevalence of pathogenic BRCA variants in high-risk pts is 5.6–20% (Abulkhair and El Saghir 2021). 7 BRCA1 and 7 BRCA2 pathogenic variants were found in 5.6% of 250 pts with high hereditary risk breast cancer using amplicon sequencing and MLPA (El Saghir 2015; Poulet 2016). We report results of Next Generation Sequencing (NGS) on selected cases based on Manchester Score. First report in ethnic Lebanese Arab pts.
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关键词
hereditary breast cancer,ethnic lebanese arab patients,pathogenic mutations,breast cancer
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