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Gray PN , Tsai P , Chen D , Wu S , Hoo J , Mu W , Li B , Vuong H , Lu HM , Batth N , Willett S , Uyeda L , Shah S , Gau CL , Umali M , Espenschied C , Janicek M , Brown S , Margileth D , Dobrea L , Wagman L , Rana H , Hall MJ , Ross T , Terdiman J , Cullinane C , Ries S , Totten E , Elliott AM
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
Oncotarget. 2018 Apr 17;9(29) :20304-20322
PMID: 29755653 PMCID: PMC5945525 URL: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85045515423&doi=10.18632%2foncotarget.24854&partnerID=40&md5=3f55e0587c2d8ca45c1669ac9890fc37
AbstractThe 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.
NotesExport Date: 1 May 2018