Early-onset breast cancer in a woman with a germline mobile element insertion resulting in BRCA2 disruption: a case report

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 MEI...

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Autores principales: Deuitch, Natalie, Li, Shao-Tzu, Courtney, Eliza, Shaw, Tarryn, Dent, Rebecca, Tan, Veronique, Yackowski, Lauren, Torene, Rebecca, Berkofsky-Fessler, Windy, Ngeow, Joanne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7447638/
https://www.ncbi.nlm.nih.gov/pubmed/32884827
http://dx.doi.org/10.1038/s41439-020-00111-z
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author Deuitch, Natalie
Li, Shao-Tzu
Courtney, Eliza
Shaw, Tarryn
Dent, Rebecca
Tan, Veronique
Yackowski, Lauren
Torene, Rebecca
Berkofsky-Fessler, Windy
Ngeow, Joanne
author_facet Deuitch, Natalie
Li, Shao-Tzu
Courtney, Eliza
Shaw, Tarryn
Dent, Rebecca
Tan, Veronique
Yackowski, Lauren
Torene, Rebecca
Berkofsky-Fessler, Windy
Ngeow, Joanne
author_sort Deuitch, Natalie
collection PubMed
description 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.
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spelling pubmed-74476382020-09-02 Early-onset breast cancer in a woman with a germline mobile element insertion resulting in BRCA2 disruption: a case report Deuitch, Natalie Li, Shao-Tzu Courtney, Eliza Shaw, Tarryn Dent, Rebecca Tan, Veronique Yackowski, Lauren Torene, Rebecca Berkofsky-Fessler, Windy Ngeow, Joanne Hum Genome Var Data Report 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. Nature Publishing Group UK 2020-08-25 /pmc/articles/PMC7447638/ /pubmed/32884827 http://dx.doi.org/10.1038/s41439-020-00111-z Text en © The Author(s) 2020 Open Access 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 http://creativecommons.org/licenses/by/4.0/.
spellingShingle Data Report
Deuitch, Natalie
Li, Shao-Tzu
Courtney, Eliza
Shaw, Tarryn
Dent, Rebecca
Tan, Veronique
Yackowski, Lauren
Torene, Rebecca
Berkofsky-Fessler, Windy
Ngeow, Joanne
Early-onset breast cancer in a woman with a germline mobile element insertion resulting in BRCA2 disruption: a case report
title Early-onset breast cancer in a woman with a germline mobile element insertion resulting in BRCA2 disruption: a case report
title_full Early-onset breast cancer in a woman with a germline mobile element insertion resulting in BRCA2 disruption: a case report
title_fullStr Early-onset breast cancer in a woman with a germline mobile element insertion resulting in BRCA2 disruption: a case report
title_full_unstemmed Early-onset breast cancer in a woman with a germline mobile element insertion resulting in BRCA2 disruption: a case report
title_short Early-onset breast cancer in a woman with a germline mobile element insertion resulting in BRCA2 disruption: a case report
title_sort early-onset breast cancer in a woman with a germline mobile element insertion resulting in brca2 disruption: a case report
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7447638/
https://www.ncbi.nlm.nih.gov/pubmed/32884827
http://dx.doi.org/10.1038/s41439-020-00111-z
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