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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...

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Salvato in:
Dettagli Bibliografici
Pubblicato in:Fam Cancer
Autori principali: Alhopuro, Pia, Vainionpää, Reetta, Anttonen, Anna-Kaisa, Aittomäki, Kristiina, Nevanlinna, Heli, Pöyhönen, Minna
Natura: Artigo
Lingua:Inglês
Pubblicazione: Springer Netherlands 2020
Soggetti:
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7497290/
https://ncbi.nlm.nih.gov/pubmed/32468491
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10689-020-00186-1
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