Reduced penetrance BRCA1 and BRCA2 pathogenic variants in clinical germline genetic testing
Abstract Prior studies have suggested the existence of reduced penetrance pathogenic variants (RPPVs) in BRCA1 and BRCA2 (BRCA) which pose challenges for patient counseling and care. Here, we sought to establish RPPVs as a new category of variants. Candidate BRCA RPPVs provided by two large clinical...
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| Hlavní autoři: | , , , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Nature Portfolio
2024-11-01
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| Edice: | npj Precision Oncology |
| On-line přístup: | https://doi.org/10.1038/s41698-024-00741-4 |
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