Tumor characteristics provide evidence for MMR variant pathogenicity

Reviewers’ Choice Abstracts 

• Mutations in MMR genes are known to have a role in the development of Lynch syndrome and other cancers.
• Tumor characteristics such as MSI and IHC status are often used alone or together to evaluate risk for Lynch syndrome in clinical screening.
• We show that MSI/IHC status provide additional evidence for MMR variant pathogenicity assessment.