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

Session:
#184
Date:
Friday, Oct 20, 2017 5:03pm – 7:00pm
Conference:
CGA-ICC 2017
Authors:
Kelly Fulk, David Salvador, Michelle Jackson, Jessica Profato, Laura Panos, Carin Espenschied, Kory Jasperson, Phillip Gray, Daniel Chen, Monalyn Umali, Carla Mason, Melissa Truelson, Arnold Berber, Swati Shah, Chia-Ling Gau, PhD, DABMG
  • 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.
Abstract Poster