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

Deuitch N, Shao-Tzu Li, Li ST, Courtney E, Eliza Courtney, Tarryn Shaw, Shaw T, Dent R, Rebecca Dent, Tan V, Veronique Tan, Yackowski L, Lauren Yackowski, Rebecca Torene, Torene R, Windy Berkofsky-Fessler, Berkofsky-Fessler W, Ngeow J, Joanne Ngeow
Human genome variation · 2020 · vol. 7 , pp. 24 · doi:10.1038/s41439-020-00111-z · PMID:32884827 · PMC7447638
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This case report identifies a novel SVA retrotransposon insertion in BRCA2 causing early-onset breast cancer, highlighting the necessity of optimizing bioinformatic pipelines to detect mobile element insertions in hereditary cancer genes.

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This case report describes a patient with early-onset breast cancer who was found to have a germline mobile element insertion that disrupted the BRCA2 gene. The clinical team characterized the subject and collected samples, while genetic analysis confirmed the specific mutation responsible for the predisposition to cancer. The study highlights the role of rare genetic variants in the development of breast cancer at a young age. The paper does not explicitly discuss endometriosis or adenomyosis; it was included in the corpus via a keyword match in the upstream search index.

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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.
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Ack

The authors thank the patient and her family for their participation in this study. We also thank GeneDx for contributing to the description of the genetic findings.

Hgv

The relevant data from this Data Report are hosted at the Human Genome Variation Database at 10.6084/m9.figshare.hgv.2888.

Author

R.D., V.T., S.-T.L., E.C., T.S., and J.N. clinically characterized the subject and collected the samples. L.Y., R.T., and W.B.-F. analyzed the genetic test results. N.D. wrote the manuscript. All authors critically revised and approved the manuscript.

Patient

Patient consent was obtained under IRB number 2011/826/B.

Conflict

J.N. received funding from AstraZeneca for breast and ovarian cancer research unrelated to the current study. L.Y., R.T., and W.B.-F. are salaried employees of GeneDx/OPKO Health. The remaining authors declare no competing interests.

Fn Group

Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Associated Data

The relevant data from this Data Report are hosted at the Human Genome Variation Database at 10.6084/m9.figshare.hgv.2888.

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