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2 results on '"Stefanie Hecker-Nolting"'

1. Association of candidate pharmacogenetic markers with platinum-induced ototoxicity: PanCareLIFE dataset

Author

Thorsten Langer, Eva Clemens, Linda Broer, Lara Maier, André G. Uitterlinden, Andrica C.H. de Vries, Martine van Grotel, Saskia F.M. Pluijm, Harald Binder, Benjamin Mayer, Annika von dem Knesebeck, Julianne Byrne, Eline van Dulmen-den Broeder, Marco Crocco, Desiree Grabow, Peter Kaatsch, Melanie Kaiser, Claudia Spix, Line Kenborg, Jeanette F. Winther, Catherine Rechnitzer, Henrik Hasle, Tomas Kepak, Anne-Lotte F. van der Kooi, Leontien C. Kremer, Jarmila Kruseova, Stefan Bielack, Benjamin Sorg, Stefanie Hecker-Nolting, Claudia E. Kuehni, Marc Ansari, Martin Kompis, Heleen J. van der Pal, Ross Parfitt, Dirk Deuster, Peter Matulat, Amelie Tillmanns, Wim J.E. Tissing, Jörn D. Beck, Susanne Elsner, Antoinette am Zehnhoff-Dinnesen, Marry M. van den Heuvel-Eibrink, and Oliver Zolk

Subjects
Cancer survivors, Childhood cancer, Cisplatin: carboplatin, Drug-induced ototoxicity, Adverse drug reaction, Pharmacogenetics, Computer applications to medicine. Medical informatics, R858-859.7, Science (General), Q1-390
Abstract

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, patients were assigned to three phenotype categories: no, minor, and clinically relevant hearing loss. Fourteen variants in eleven candidate genes (ABCC3, OTOS, TPMT, SLC22A2, NFE2L2, SLC16A5, LRP2, GSTP1, SOD2, WFS1, and ACYP2) were genotyped. The genotype and phenotype data represent a resource for conducting meta-analyses to derive a more precise pooled estimate of the effects of genes on the risk of hearing loss due to platinum treatment.

Published
2020
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2. Association of candidate pharmacogenetic markers with platinum-induced ototoxicity

Author

Heleen J H van der Pal, Peter Matulat, Claudia Spix, Jeanette Falck Winther, Leontien C. M. Kremer, Peter Kaatsch, Jörn D. Beck, Line Kenborg, Anne-Lotte L F van der Kooi, Lara Maier, Melanie Kaiser, Saskia F.M. Pluijm, Harald Binder, Wim J. E. Tissing, Susanne Elsner, Linda Broer, André G. Uitterlinden, Oliver Zolk, Desiree Grabow, Claudia E. Kuehni, Antoinette am Zehnhoff-Dinnesen, Annika von dem Knesebeck, Marry M. van den Heuvel-Eibrink, Marco Crocco, Martin Kompis, Jarmila Kruseova, Marc Ansari, Martine van Grotel, Amelie Tillmanns, Benjamin Mayer, Julianne Byrne, Stefanie Hecker-Nolting, Dirk Deuster, Eline van Dulmen-den Broeder, Benjamin Sorg, Stefan S. Bielack, Eva Clemens, Henrik Hasle, Thorsten Langer, Tomáš Kepák, Ross Parfitt, Andrica C H de Vries, Catherine Rechnitzer, Amsterdam Reproduction & Development (AR&D), Pediatric surgery, CCA - Cancer biology and immunology, Pediatrics, Internal Medicine, Obstetrics & Gynecology, and Guided Treatment in Optimal Selected Cancer Patients (GUTS)

Subjects
Oncology, Drug-induced ototoxicity, medicine.medical_specialty, Candidate gene, Hearing loss, Multicenter cohort study, Cancer survivors, Population, Adverse drug reaction, 610 Medicine & health, lcsh:Computer applications to medicine. Medical informatics, 03 medical and health sciences, 0302 clinical medicine, 360 Social problems & social services, Internal medicine, medicine, Genetic predisposition, education, lcsh:Science (General), 030304 developmental biology, Genetic association, 0303 health sciences, education.field_of_study, Multidisciplinary, Thiopurine methyltransferase, biology, carboplatin [Cisplatin], business.industry, Medicine and Dentistry, Pediatric cancer, Cisplatin: carboplatin, Pharmacogenetics, biology.protein, lcsh:R858-859.7, Genetic markers, medicine.symptom, business, Childhood cancer, 030217 neurology & neurosurgery, lcsh:Q1-390
Abstract

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, patients were assigned to three phenotype categories: no, minor, and clinically relevant hearing loss. Fourteen variants in eleven candidate genes (ABCC3, OTOS, TPMT, SLC22A2, NFE2L2, SLC16A5, LRP2, GSTP1, SOD2, WFSI, and ACYP2) were genotyped. The genotype and phenotype data represent a resource for conducting metaanalyses to derive a more precise pooled estimate of the effects of genes on the risk of hearing loss due to platinum treatment. (C) 2020 The Authors. Published by Elsevier Inc.

Published
2020

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