2024
Heterozygous ZNHIT3 variants within the 17q12 recurrent deletion region are associated with Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome
Brakta S, Du Q, Chorich L, Hawkins Z, Sullivan M, Ko E, Kim H, Knight J, Taylor H, Friez M, Phillips J, Layman L. Heterozygous ZNHIT3 variants within the 17q12 recurrent deletion region are associated with Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome. Molecular And Cellular Endocrinology 2024, 589: 112237. PMID: 38599276, DOI: 10.1016/j.mce.2024.112237.Peer-Reviewed Original ResearchCNV regionsDetect intragenic deletionsSingle nucleotide variantsRecurrent deletion regionsC-terminal regionSequencing of familiesGenome sequenceNucleotide variantsProtein expression in vitroLXXLL sequenceMissense variantsDeleted regionChromosome 17q12Exome sequencingGenetic approachesIntragenic deletionsTruncating variantsSanger sequencingSplice variantsMolecular basisHeterozygous variantsStopgain variantsZNHIT3Steroid hormone bindingExpression in vitro
2023
Abstract A123: Circulating tumor DNA (ctDNA) genomic and epigenomic profiling (GuardantINFINITY) for diagnosis of DNA damage repair (DDR) loss of function (LOF) and response monitoring in the TRESR and ATTACC trials
Rosen E, Schonhoft J, Silverman I, Yablonovitch A, Sethuraman S, Nejad P, Ulanet D, Yang J, Kim I, Fei K, Xu Y, Lagow E, Zhang S, Cai M, Koehler M, Carneiro B, Lheureux S, Cecchini M, Herzberg B, Reis-Filho J, Rimkunas V, Yap T. Abstract A123: Circulating tumor DNA (ctDNA) genomic and epigenomic profiling (GuardantINFINITY) for diagnosis of DNA damage repair (DDR) loss of function (LOF) and response monitoring in the TRESR and ATTACC trials. Molecular Cancer Therapeutics 2023, 22: a123-a123. DOI: 10.1158/1535-7163.targ-23-a123.Peer-Reviewed Original ResearchCirculating tumor DNAVariant allele frequencyDNA damage repairEpigenomic profilingTumor DNADamage repairResponse monitoringCirculating tumor DNA sequencingLow variant allele frequencyTreated with PARPiPhase 1 studyCell-free DNAMolecular responseIntragenic deletionsEpigenetic analysisAllele frequenciesRad3-relatedCH variantsGenomic alterationsOn-treatmentClinical outcomesPancreatic cancerAtaxia telangiectasiaPathogenic alterationsEvaluable pts
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