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Constitutional mosaicism for a BRCA2 mutation as a cause of early-onset breast cancer
Germline mutations in the BRCA1 and BRCA2 genes cause hereditary breast and ovarian cancer syndrome (HBOC). Mutations in these genes are usually inherited, and reports of de novo BRCA1/2 mutations are rare. To date, only one patient with low-level BRCA1 mutation mosaicism has been published. We repo...
Autores principales: | Alhopuro, Pia, Vainionpää, Reetta, Anttonen, Anna-Kaisa, Aittomäki, Kristiina, Nevanlinna, Heli, Pöyhönen, Minna |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Netherlands
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7497290/ https://www.ncbi.nlm.nih.gov/pubmed/32468491 http://dx.doi.org/10.1007/s10689-020-00186-1 |
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