Early-onset breast cancer in a woman with a germline mobile element insertion resulting in BRCA2 disruption: a case report.
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ABSTRACT:
SUBMITTER: Deuitch N
PROVIDER: S-EPMC7447638 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Publications
Early-onset breast cancer in a woman with a germline mobile element insertion resulting in <i>BRCA2</i> disruption: a case report.
Deuitch Natalie N Li Shao-Tzu ST Courtney Eliza E Shaw Tarryn T Dent Rebecca R Tan Veronique V Yackowski Lauren L Torene Rebecca R Berkofsky-Fessler Windy W Ngeow Joanne J
Human genome variation 20200825
Mobile element insertions (MEIs) contribute to genomic diversity, but they can be responsible for human disease in some cases. Initial clinical testing (<i>BRCA1</i>, <i>BRCA2</i> and <i>PALB2</i>) 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 <i>BRCA2</i>. This case highlights the importance of bioinformatic pipeline ...[more]
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