0000000000324657

AUTHOR

Tomáš Kepák

showing 4 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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Effect of genetic variation in CYP450 on Gonadal impairment in a European cohort of female childhood cancer survivors, based on a candidate gene appr…

2021

Background: Female childhood cancer survivors (CCSs) carry a risk of therapy-related gonadal dysfunction. Alkylating agents (AA) are well-established risk factors, yet inter-individual variability in ovarian function is observed. Polymorphisms in CYP450 enzymes may explain this variability in AA-induced ovarian damage. We aimed to evaluate associations between previously identified genetic polymorphisms in CYP450 enzymes and AA-related ovarian function among adult CCSs. Methods: Anti-Müllerian hormone (AMH) levels served as a proxy for ovarian function in a discovery cohort of adult female CCSs, from the pan-European PanCareLIFE cohort (n = 743

OncologyInfertilityCancer ResearchCandidate genemedicine.medical_specialtyendocrine systemendocrine system diseasesMedizinAnti-Müllerian hormoneArticleHealthcare improvement science Radboud Institute for Health Sciences [Radboudumc 18]Childhood cancer survivors03 medical and health sciences0302 clinical medicineSDG 3 - Good Health and Well-beingInterquartile rangeInternal medicineGenetic variationGenetic modelmedicineChemotherapyFertility preservationRC254-282030304 developmental biology0303 health sciencesbiologybusiness.industryNeoplasms. Tumors. Oncology. Including cancer and carcinogensAnti-Müllerian hormonemedicine.diseaseOvarian functionCytochrome P450 genesWomen's cancers Radboud Institute for Health Sciences [Radboudumc 17]3. Good healthOncology030220 oncology & carcinogenesisCohortbiology.proteinCandidate gene approachbusinessGeneral Economics Econometrics and FinanceCancers
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Health-related quality of life in European childhood cancer survivors: Protocol for a study within PanCareLIFE

2021

Background Survival after childhood cancer has improved to more than 80% during the last few years, leading to an increased number of childhood cancer survivors. Cancer itself, or its treatment, may cause chronic health conditions, including somatic and mental sequelae, which may affect survivors’ health-related quality of life (HRQoL). Objective The project PanCareLIFE aims to establish a large database with comprehensive data on childhood cancer survivors from different European countries, including data on HRQoL. Within PanCareLIFE, this study aims to describe HRQoL in survivors, investigate predictors of HRQoL, and describe the association of HRQoL with hearing and female fertility imp…

Pediatricsmedicine.medical_specialtymedia_common.quotation_subjectComputer applications to medicine. Medical informaticsChildhood cancerR858-859.7Medizinneoplasms610 Medicine & healthhealth statusFertility03 medical and health sciences0302 clinical medicinechildrenQuality of lifeSDG 3 - Good Health and Well-being360 Social problems & social servicesEpidemiologyProtocolMedicineadolescents030212 general & internal medicinemedia_commonHealth related quality of lifebusiness.industryRQuestionnaireCancersurvivors of childhood cancerGeneral Medicinemedicine.diseasehumanities3. Good healthEuropequality of life030220 oncology & carcinogenesisCohortMedicineepidemiologybusinessJMIR Research Protocols
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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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