Original paper
Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicity
Abstract
Background Pathogenic variants in mismatch repair (MMR) genes ( MLH1, MSH2 , MSH6 and PMS2 ) increase risk for Lynch syndrome and related cancers. We quantified tumour characteristics to assess variant pathogenicity for germline MMR genes. Methods Among 4740 patients with cancer with microsatellite instability (MSI) and immunohistochemical (IHC) results, we tested MMR pathogenic variant association with MSI/IHC status, and estimated likelihood...
Paper Details
Title
Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicity
Published Date
Aug 7, 2019
Journal
Volume
57
Issue
1
Pages
62 - 69
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Notes
History