Session # 184

Paired Tumor/Germline Testing for Lynch Syndrome – A Comprehensive Testing Approach.

  • Adding tumor MMR gene analyses to the Lynch syndrome testing algorithm allows for potential exclusion of Lynch syndrome and reduces the likelihood of unexplained IHC results.
  • In this cohort, 76% patients had either a germline MMR mutation, consistent with Lynch syndrome, or somatic changes to explain IHC results, significantly reducing the likelihood of Lynch syndrome in the majority of cases.
  • In this cohort, 47% of cases would have remained unexplained without the addition of somatic MMR gene sequencing and deletion/duplication analyses.

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