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    Early-onset breast cancer in a woman with a germline mobile element insertion resulting in BRCA2 disruption : a case report by Deuitch, Natalie, Li, Shao-Tzu, Courtney, Eliza, Shaw, Tarryn, Dent, Rebecca, Tan, Veronique, Yackowski, Lauren, Torene, Rebecca, Berkofsky-Fessler, Windy, Ngeow, Joanne

    Published 2020
    “…Subsequent reanalysis for MEIs detected a novel likely pathogenic insertion of the retrotransposon element (RE) c.7894_7895insSVA in BRCA2. This case highlights the importance of bioinformatic pipeline optimization for the detection of MEIs in genes associated with hereditary cancer, as early detection can significantly impact clinical management.…”
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    Journal Article