Cargando…
BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories
Pathogenic germline variants in Breast cancer susceptibility gene 1 (BRCA1) predispose carriers to hereditary breast and ovarian cancer (HBOC). Through genetic testing of patients with suspected HBOC an increasing number of novel BRCA1 variants are discovered. This creates a growing need to determin...
Autores principales: | Hovland, Henrikke N., Al-Adhami, Rafal, Ariansen, Sarah Louise, Van Ghelue, Marijke, Sjursen, Wenche, Lima, Sigrid, Bolstad, Marte, Berger, Amund H., Høberg-Vetti, Hildegunn, Knappskog, Per, Haukanes, Bjørn Ivar, Aukrust, Ingvild, Ognedal, Elisabet |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Netherlands
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9636114/ https://www.ncbi.nlm.nih.gov/pubmed/34981296 http://dx.doi.org/10.1007/s10689-021-00286-6 |
Ejemplares similares
-
Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions
por: Hovland, Henrikke Nilsen, et al.
Publicado: (2023) -
Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays
por: Bassi, Nicola, et al.
Publicado: (2023) -
The intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23—a likely pathogenic variant with reduced penetrance?
por: Høberg-Vetti, Hildegunn, et al.
Publicado: (2020) -
BRCA1/2 testing in newly diagnosed breast and ovarian cancer patients without prior genetic counselling: the DNA-BONus study
por: Høberg-Vetti, Hildegunn, et al.
Publicado: (2016) -
Trans-activation-based risk assessment of BRCA1 BRCT variants with unknown clinical significance
por: Langerud, Jonas, et al.
Publicado: (2018)