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Title: Early-onset breast cancer in a woman with a germline mobile element insertion resulting in BRCA2 disruption : a case report
Authors: Deuitch, Natalie
Li, Shao-Tzu
Courtney, Eliza
Shaw, Tarryn
Dent, Rebecca
Tan, Veronique
Yackowski, Lauren
Torene, Rebecca
Berkofsky-Fessler, Windy
Ngeow, Joanne
Keywords: Science::Medicine
Issue Date: 2020
Source: Deuitch, 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-z
Journal: Human Genome Variation
Abstract: 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. 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.
ISSN: 2054-345X
DOI: 10.1038/s41439-020-00111-z
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
Fulltext Permission: open
Fulltext Availability: With Fulltext
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