Session # 64

Reducing Unnecessary Screening in Lynch-Like Syndrome with Tumor Sequencing

  • A simulated case based survey assessed the use of tumor sequencing data in making recommendations for colon and endometrial cancer screening/prevention in suspected Lynch syndrome.
  • Providers often recommend increased screening procedures based on the detection of mismatch repair deficiency by IHC staining, even when no germline MMR mutation has been identified.
  • Knowledge of biallelic somatic mutations in a MMR gene (detected by tumor sequencing) helps to rule out Lynch syndrome and reduces the need for costly high-risk screening and risk reduction procedures.

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