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