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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Salvato in:
Dettagli Bibliografici
Pubblicato in:Hum Genome Var
Autori principali: Deuitch, Natalie, Li, Shao-Tzu, Courtney, Eliza, Shaw, Tarryn, Dent, Rebecca, Tan, Veronique, Yackowski, Lauren, Torene, Rebecca, Berkofsky-Fessler, Windy, Ngeow, Joanne
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group UK 2020
Soggetti:
Data Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7447638/
https://ncbi.nlm.nih.gov/pubmed/32884827
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-020-00111-z
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