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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Vydáno v:J Mol Diagn
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Investigative Pathology 2021
Témata:
Regular Article
On-line přístup: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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