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...

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Detalles Bibliográficos
Autores principales: Alhopuro, Pia, Vainionpää, Reetta, Anttonen, Anna-Kaisa, Aittomäki, Kristiina, Nevanlinna, Heli, Pöyhönen, Minna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2020
Materias:
Short Communication
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

Internet

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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