Novel de novo BRCA2 mutation in a patient with a family history of breast cancer

BACKGROUND: BRCA2 germ-line mutations predispose to breast and ovarian cancer. Mutations are widespread and unclassified splice variants are frequently encountered. We describe the parental origin and functional characterization of a novel de novo BRCA2 splice site mutation found in a patient exhibi...

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Hauptverfasser: Hansen, Thomas V O, Bisgaard, Marie Luise, Jønson, Lars, Albrechtsen, Anders, Filtenborg-Barnkob, Bettina, Eiberg, Hans, Ejlertsen, Bent, Nielsen, Finn C
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2008
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2478678/
https://ncbi.nlm.nih.gov/pubmed/18597679
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-9-58
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