Cargando…
Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing
We have surveyed 191 prospectively sampled familial cancer patients with no previously detected pathogenic variant in the BRCA1/2, PTEN, TP53 or DNA mismatch repair genes. In all, 138 breast cancer (BC) cases, 34 colorectal cancer (CRC) and 19 multiple early-onset cancers were included. A panel of 4...
Autores principales: | Dominguez-Valentin, Mev, Nakken, Sigve, Tubeuf, Hélène, Vodak, Daniel, Ekstrøm, Per Olaf, Nissen, Anke M., Morak, Monika, Holinski-Feder, Elke, Holth, Arild, Capella, Gabriel, Davidson, Ben, Evans, D. Gareth, Martins, Alexandra, Møller, Pål, Hovig, Eivind |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6898579/ https://www.ncbi.nlm.nih.gov/pubmed/31811167 http://dx.doi.org/10.1038/s41598-019-54517-z |
Ejemplares similares
-
Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds
por: Dominguez-Valentin, Mev, et al.
Publicado: (2018) -
Identification of genetic variants for clinical management of familial colorectal tumors
por: Dominguez-Valentin, Mev, et al.
Publicado: (2018) -
Personal Cancer Genome Reporter: variant interpretation report for precision oncology
por: Nakken, Sigve, et al.
Publicado: (2018) -
Automated amplicon design suitable for analysis of DNA variants by melting techniques
por: Ekstrøm, Per Olaf, et al.
Publicado: (2015) -
The disruptive positions in human G-quadruplex motifs are less polymorphic and more conserved than their neutral counterparts
por: Nakken, Sigve, et al.
Publicado: (2009)