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Targeted next‐generation sequencing of 22 mismatch repair genes identifies Lynch syndrome families

Causative germline mutations in mismatch repair (MMR) genes can only be identified in ~50% of families with a clinical diagnosis of the inherited colorectal cancer (CRC) syndrome hereditary nonpolyposis colorectal cancer (HNPCC)/Lynch syndrome (LS). Identification of these patients are critical as t...

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Detalles Bibliográficos
Autores principales: Talseth‐Palmer, Bente A., Bauer, Denis C., Sjursen, Wenche, Evans, Tiffany J., McPhillips, Mary, Proietto, Anthony, Otton, Geoffrey, Spigelman, Allan D., Scott, Rodney J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4864822/
https://www.ncbi.nlm.nih.gov/pubmed/26811195
http://dx.doi.org/10.1002/cam4.628