Cargando…
Identification of a Danish breast/ovarian cancer family double heterozygote for BRCA1 and BRCA2 mutations
Mutations in the two breast cancer susceptibility genes BRCA1 and BRCA2 are associated with increased risk of breast and ovarian cancer. Patients with mutations in both genes are rarely reported and often involve Ashkenazi founder mutations. Here we report the first identification of a Danish breast...
Autores principales: | Steffensen, Ane Y., Jønson, Lars, Ejlertsen, Bent, Gerdes, Anne-Marie, Nielsen, Finn C., Hansen, Thomas V. O. |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
Springer Netherlands
2010
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2921502/ https://www.ncbi.nlm.nih.gov/pubmed/20455026 http://dx.doi.org/10.1007/s10689-010-9345-6 |
Ejemplares similares
-
Functional characterization of BRCA1 gene variants by mini-gene splicing assay
por: Steffensen, Ane Y, et al.
Publicado: (2014) -
Novel de novo BRCA2 mutation in a patient with a family history of breast cancer
por: Hansen, Thomas V O, et al.
Publicado: (2008) -
Splicing analysis of 14 BRCA1 missense variants classifies nine variants as pathogenic
por: Ahlborn, Lise B., et al.
Publicado: (2015) -
Classifications within Molecular Subtypes Enables Identification of BRCA1/BRCA2 Mutation Carriers by RNA Tumor Profiling
por: Larsen, Martin J., et al.
Publicado: (2013) -
Mutations of the BRCA1 and BRCA2 Genes in Danish Patients Diagnosed at Young Age with Multi-Centric or Bilateral Breast Cancer
por: Bergthorsson, J. T., et al.
Publicado: (1999)