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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...

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Detalles Bibliográficos
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