Germline and Tumor Whole Genome Sequencing as a Diagnostic Tool to Resolve Suspected Lynch Syndrome

Abstract excerpt

<h4>Background</h4> People who develop mismatch repair (MMR) deficient cancer in the absence of a germline MMR gene pathogenic variant or hypermethylation of the MLH1 gene promoter in their tumor are classified as having suspected Lynch syndrome (SLS). We applied germline whole genome sequencing (WGS) and targeted and genome-wide tumor sequencing approaches to identify the underlying cause of tumor MMR-deficiency...

Topics

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• Class I Phosphatidylinositol 3-Kinases
• Colorectal Neoplasms, Hereditary Nonpolyposis
• DNA Mismatch Repair
• Endometrial Neoplasms
• Exome Sequencing
• MutL Protein Homolog 1
• MutS Homolog 2 Protein
• PTEN Phosphohydrolase

Identifiers and source

Literature Corpus work

4a4bba71-b50a-50a7-9260-881d49f11017

DOI

10.1101/2020.03.12.20034991