TumorNext-Lynch-MMR: A comprehensive next generation sequencing assay for the detection of germline and somatic mutations in genes associated with mismatch repair deficiency and Lynch syndrome

Phillip N. Gray, Pei Tsai, Daniel Chen, Sitao Wu, Jayne Hoo, Wenbo Mu, Bing Li, Huy Vuong, Hsiao Mei Lu, Navanjot Batth, Sara Willett, Lisa Uyeda, Swati Shah, Chia Ling Gau, Monalyn Umali, Carin Espenschied, Mike Janicek, Sandra Brown, David Margileth, Lavinia DobreaLawrence Wagman, Huma Rana, Michael J. Hall, Theodora Ross, Jonathan Terdiman, Carey Cullinane, Savita Ries, Ellen Totten, Aaron M. Elliott

Research output: Contribution to journalArticle

5 Scopus citations

Abstract

The current algorithm for Lynch syndrome diagnosis is highly complex with multiple steps which can result in an extended time to diagnosis while depleting precious tumor specimens. Here we describe the analytical validation of a custom probe-based NGS tumor panel, TumorNext-Lynch-MMR, which generates a comprehensive genetic profile of both germline and somatic mutations that can accelerate and streamline the time to diagnosis and preserve specimen. TumorNext- Lynch-MMR can detect single nucleotide variants, small insertions and deletions in 39 genes that are frequently mutated in Lynch syndrome and colorectal cancer. Moreover, the panel provides microsatellite instability status and detects loss of heterozygosity in the five Lynch genes; MSH2, MSH6, MLH1, PMS2 and EPCAM. Clinical cases are described that highlight the assays ability to differentiate between somatic and germline mutations, precisely classify variants and resolve discordant cases.

Original languageEnglish (US)
Pages (from-to)20304-20322
Number of pages19
JournalOncotarget
Volume9
Issue number29
DOIs
Publication statusPublished - Apr 17 2018

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Keywords

  • Colorectal cancer
  • Lynch syndrome
  • Microsatellite instability
  • Mismatch repair deficiency
  • Next generation sequencing

ASJC Scopus subject areas

  • Oncology

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