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...

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Dades bibliogràfiques
Publicat a:J Mol Diagn
Autors principals: 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
Idioma:Inglês
Publicat: American Society for Investigative Pathology 2021
Matèries:
Regular Article
Accés en línia: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
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