Oncology

Session # 2418F‡

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.

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