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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Gepubliceerd in:J Mol Diagn
Hoofdauteurs: 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.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: American Society for Investigative Pathology 2021
Onderwerpen:
Regular Article
Online toegang: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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