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.

  • Authors: Monalyn Umali; Carla Mason; Melissa Truelson; Kelly Fulk; Arnold Berber; David Salvador; Michelle Jackson; Jessica Profato; Laura Panos Smith; Carin Espenschied; Kory Jasperson; Phillip Gray; Swati Shah; Daniel Chen; Chia-Ling Gau
  • Conference: Collaborative Group of the Americas on Inherited Colorectal Cancer (CGA-ICC)
  • Date: Friday, Oct 20, 2017 5:03pm - 7:00pm

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