Germline and Tumor Sequencing as a Diagnostic Tool To Resolve Suspected Lynch Syndrome

Patients in whom mismatch repair (MMR)-deficient cancer develops in the absence of pathogenic variants of germline MMR genes or somatic hypermethylation of the MLH1 gene promoter are classified as having suspected Lynch syndrome (SLS). Germline whole-genome sequencing (WGS) and targeted and genome-w...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:J Mol Diagn
Hauptverfasser: Pope, Bernard J., Clendenning, Mark, Rosty, Christophe, Mahmood, Khalid, Georgeson, Peter, Joo, Jihoon E., Walker, Romy, Hutchinson, Ryan A., Jayasekara, Harindra, Joseland, Sharelle, Como, Julia, Preston, Susan, Spurdle, Amanda B., Macrae, Finlay A., Win, Aung K., Hopper, John L., Jenkins, Mark A., Winship, Ingrid M., Buchanan, Daniel D.
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society for Investigative Pathology 2021
Schlagworte:
Regular Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7927277/
https://ncbi.nlm.nih.gov/pubmed/33383211
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jmoldx.2020.12.003
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge