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  1. 81

    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
    “…Mobile element insertions (MEIs) contribute to genomic diversity, but they can be responsible for human disease in some cases. Initial clinical testing (BRCA1, BRCA2 and PALB2) in a 40-year-old female with unilateral breast cancer did not detect any pathogenic variants. …”
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    Journal Article
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