0000000000324668

AUTHOR

Catherine Rechnitzer

showing 3 related works from this author

Genetic determinants of ototoxicity during and after childhood cancer treatment: Protocol for the pancarelife study

2019

BACKGROUND: Survival rates after childhood cancer now reach nearly 80% in developed countries. However, treatments that lead to survival and cure can cause serious adverse effects with lifelong negative impacts on survivor quality of life. Hearing impairment is a common adverse effect in children treated with cisplatin-based chemotherapy or cranial radiotherapy. Ototoxicity can extend from high-tone hearing impairment to involvement of speech frequencies. Hearing impairment can impede speech and language and neurocognitive development. Although treatment-related risk factors for hearing loss following childhood cancer treatment have been identified, the individual variability in toxicity of…

OncologyCandidate gene020205 medical informaticscisplatinCHILDREN02 engineering and technologyVARIANTSPLATINUM-INDUCED OTOTOXICITYChildhood cancer survivors0302 clinical medicineTPMT0202 electrical engineering electronic engineering information engineeringProtocolGWASgenetics030212 general & internal medicineSURVIVORSGeneral MedicineCHEMOTHERAPY3. Good healthototoxicityCohortmedicine.symptomcandidate genes020 Library & information sciencesmedicine.medical_specialtyINDUCED HEARING-LOSSHearing losschildhood cancer survivors610 Medicine & healthINTERNATIONAL SOCIETYCandidate genes03 medical and health sciencesACYP2OtotoxicitySDG 3 - Good Health and Well-being360 Social problems & social servicesInternal medicinemedicineGenetic predispositionGeneticsCISPLATIN-INDUCED OTOTOXICITYAdverse effecthearing lossbusiness.industryCancerHearing lossmedicine.diseaseOtotoxicityClinical trialCisplatinbusinessPolymorphismspolymorphisms
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Association of candidate pharmacogenetic markers with platinum-induced ototoxicity

2020

Genetic association studies suggest a genetic predisposition for cisplatin-induced ototoxicity. Among other candidate genes, thiopurine methyltransferase (TPMT) is considered a critical gene for susceptibility to cisplatin-induced hearing loss in a pharmacogenetic guideline. The PanCareLIFE cross-sectional cohort study evaluated the genetic associations in a large pan-European population and assessed the diagnostic accuracy of the genetic markers. 1,112 pediatric cancer survivors who had provided biomaterial for genotyping were screened for participation in the pharmacogenetic association study. 900 participants qualified for inclusion. Based on the assessment of original audiograms, patien…

OncologyDrug-induced ototoxicitymedicine.medical_specialtyCandidate geneHearing lossMulticenter cohort studyCancer survivorsPopulationAdverse drug reaction610 Medicine & healthlcsh:Computer applications to medicine. Medical informatics03 medical and health sciences0302 clinical medicine360 Social problems & social servicesInternal medicinemedicineGenetic predisposition610 Medicine & healtheducationlcsh:Science (General)030304 developmental biologyGenetic association0303 health scienceseducation.field_of_studyMultidisciplinaryThiopurine methyltransferasebiologycarboplatin [Cisplatin]business.industryMedicine and DentistryPediatric cancerCisplatin: carboplatinPharmacogeneticsbiology.proteinlcsh:R858-859.7Genetic markersmedicine.symptombusinessChildhood cancer360 Social problems & social services030217 neurology & neurosurgeryPharmacogeneticslcsh:Q1-390Data in brief
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Usefulness of current candidate genetic markers to identify childhood cancer patients at risk for platinum-induced ototoxicity: Results of the Europe…

2020

Background Irreversible sensorineural hearing loss is a common side effect of platinum treatment with the potential to significantly impair the neurocognitive, social and educational development of childhood cancer survivors. Genetic association studies suggest a genetic predisposition for cisplatin-induced ototoxicity. Among other candidate genes, thiopurine methyltransferase (TPMT) is considered a critical gene for susceptibility to cisplatin-induced hearing loss in the FDA drug label and a pharmacogenetic guideline. The aim of this cross-sectional cohort study was to confirm the genetic associations in a large pan-European population and to evaluate the diagnostic accuracy of the genetic…

0301 basic medicineOncologyMaleCancer ResearchCandidate genePharmacogenomic VariantsCancer survivorsCHILDRENAnti-neoplastic drugsVARIANTSOCT2Carboplatin0302 clinical medicineHearingRisk FactorsNeoplasmsTPMTHearing / drug effectsProspective StudiesAge of OnsetChild610 Medicine & healthPREDICTORSmedia_commonHearing Loss Sensorineural / physiopathologyeducation.field_of_studyddc:618Thiopurine methyltransferasebiologycarboplatin [Cisplatin]Neoplasms / drug therapyOrganic Cation Transporter 2EuropeOncologyCisplatin: carboplatinCisplatin / adverse effects030220 oncology & carcinogenesisChild PreschoolOrganic Cation Transporter 2 / geneticsFemaleSENSITIVITYChildhood cancer360 Social problems & social servicesCohort studyDrug-induced ototoxicitymedicine.medical_specialtyINDUCED HEARING-LOSSAdolescentMulticenter cohort studyHearing Loss SensorineuralPopulationAdverse drug reactionAntineoplastic AgentsPolymorphism Single NucleotideRisk AssessmentHearing Loss Sensorineural / chemically inducedCarboplatin / adverse effects03 medical and health sciencesACYP2OtotoxicitySDG 3 - Good Health and Well-beingInternal medicinemedicineGenetic predispositionmedia_common.cataloged_instanceHumansGenetic Predisposition to DiseaseCISPLATIN-INDUCED OTOTOXICITYEuropean unioneducationGenetic Association StudiesGenetic associationRetrospective Studiesbusiness.industryAntineoplastic Agents / adverse effectsInfant NewbornInfantOdds ratioGuidelinemedicine.diseaseOtotoxicityCOMTPharmacogenomic Testing030104 developmental biologyCross-Sectional StudiesPharmacogeneticsbiology.proteinGenetic markersHearing Loss Sensorineural / geneticsCisplatinbusinessPharmacogenetics
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