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dc.contributor.authorDeuitch, Natalieen_US
dc.contributor.authorLi, Shao-Tzuen_US
dc.contributor.authorCourtney, Elizaen_US
dc.contributor.authorShaw, Tarrynen_US
dc.contributor.authorDent, Rebeccaen_US
dc.contributor.authorTan, Veroniqueen_US
dc.contributor.authorYackowski, Laurenen_US
dc.contributor.authorTorene, Rebeccaen_US
dc.contributor.authorBerkofsky-Fessler, Windyen_US
dc.contributor.authorNgeow, Joanneen_US
dc.identifier.citationDeuitch, N., Li, S.-T., Courtney, E., Shaw, T., Dent, R., Tan, V., . . . Ngeow, J. (2020). Early-onset breast cancer in a woman with a germline mobile element insertion resulting in BRCA2 disruption : a case report. Human Genome Variation, 7(1), 24-. doi:10.1038/s41439-020-00111-zen_US
dc.description.abstractMobile 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. 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.en_US
dc.relation.ispartofHuman Genome Variationen_US
dc.rights© 2020 The Author(s). This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license,and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit
dc.titleEarly-onset breast cancer in a woman with a germline mobile element insertion resulting in BRCA2 disruption : a case reporten_US
dc.typeJournal Articleen
dc.contributor.schoolLee Kong Chian School of Medicine (LKCMedicine)en_US
dc.description.versionPublished versionen_US
dc.subject.keywordsCancer Genomicsen_US
dc.subject.keywordsNext-generation Sequencingen_US
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