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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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| 出版年: | Hum Genome Var |
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| 主要な著者: | , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Nature Publishing Group UK
2020
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| 主題: | |
| オンライン・アクセス: | 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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