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Ruth T Casey Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre and Cancer Research UK Cambridge Centre, Cambridge, UK
Department of Endocrinology, Cambridge University NHS Foundation Trust, Cambridge, UK

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Benjamin G Challis Department of Endocrinology, Cambridge University NHS Foundation Trust, Cambridge, UK

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Alison Marker Department of Histopathology, Cambridge University NHS Foundation Trust, Cambridge, UK

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Deborah Pitfield Department of Endocrinology, Cambridge University NHS Foundation Trust, Cambridge, UK

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Heok K Cheow Department of Radiology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK

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Ashley Shaw Department of Radiology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK

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Soo-Mi Park Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre and Cancer Research UK Cambridge Centre, Cambridge, UK

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Helen L Simpson Department of Diabetes and Endocrinology, University College London Hospitals, NHS Foundation Trust, London, UK

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Eamonn R Maher Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre and Cancer Research UK Cambridge Centre, Cambridge, UK

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Caroline D E Margetts Department of Medical and Molecular Genetics, Cancer Research UK Renal Molecular Oncology Research Group, Hereditary Endocrine Cancer Group, The Tumour Bank, Department of Nephrology, Institute of Biomedical Research

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Mark Morris Department of Medical and Molecular Genetics, Cancer Research UK Renal Molecular Oncology Research Group, Hereditary Endocrine Cancer Group, The Tumour Bank, Department of Nephrology, Institute of Biomedical Research
Department of Medical and Molecular Genetics, Cancer Research UK Renal Molecular Oncology Research Group, Hereditary Endocrine Cancer Group, The Tumour Bank, Department of Nephrology, Institute of Biomedical Research

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Dewi Astuti Department of Medical and Molecular Genetics, Cancer Research UK Renal Molecular Oncology Research Group, Hereditary Endocrine Cancer Group, The Tumour Bank, Department of Nephrology, Institute of Biomedical Research
Department of Medical and Molecular Genetics, Cancer Research UK Renal Molecular Oncology Research Group, Hereditary Endocrine Cancer Group, The Tumour Bank, Department of Nephrology, Institute of Biomedical Research

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Dean C Gentle Department of Medical and Molecular Genetics, Cancer Research UK Renal Molecular Oncology Research Group, Hereditary Endocrine Cancer Group, The Tumour Bank, Department of Nephrology, Institute of Biomedical Research
Department of Medical and Molecular Genetics, Cancer Research UK Renal Molecular Oncology Research Group, Hereditary Endocrine Cancer Group, The Tumour Bank, Department of Nephrology, Institute of Biomedical Research

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Alberto Cascon Department of Medical and Molecular Genetics, Cancer Research UK Renal Molecular Oncology Research Group, Hereditary Endocrine Cancer Group, The Tumour Bank, Department of Nephrology, Institute of Biomedical Research

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Fiona E McRonald Department of Medical and Molecular Genetics, Cancer Research UK Renal Molecular Oncology Research Group, Hereditary Endocrine Cancer Group, The Tumour Bank, Department of Nephrology, Institute of Biomedical Research
Department of Medical and Molecular Genetics, Cancer Research UK Renal Molecular Oncology Research Group, Hereditary Endocrine Cancer Group, The Tumour Bank, Department of Nephrology, Institute of Biomedical Research

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Daniel Catchpoole Department of Medical and Molecular Genetics, Cancer Research UK Renal Molecular Oncology Research Group, Hereditary Endocrine Cancer Group, The Tumour Bank, Department of Nephrology, Institute of Biomedical Research

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Mercedes Robledo Department of Medical and Molecular Genetics, Cancer Research UK Renal Molecular Oncology Research Group, Hereditary Endocrine Cancer Group, The Tumour Bank, Department of Nephrology, Institute of Biomedical Research

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Hartmut P H Neumann Department of Medical and Molecular Genetics, Cancer Research UK Renal Molecular Oncology Research Group, Hereditary Endocrine Cancer Group, The Tumour Bank, Department of Nephrology, Institute of Biomedical Research

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Farida Latif Department of Medical and Molecular Genetics, Cancer Research UK Renal Molecular Oncology Research Group, Hereditary Endocrine Cancer Group, The Tumour Bank, Department of Nephrology, Institute of Biomedical Research
Department of Medical and Molecular Genetics, Cancer Research UK Renal Molecular Oncology Research Group, Hereditary Endocrine Cancer Group, The Tumour Bank, Department of Nephrology, Institute of Biomedical Research

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Eamonn R Maher Department of Medical and Molecular Genetics, Cancer Research UK Renal Molecular Oncology Research Group, Hereditary Endocrine Cancer Group, The Tumour Bank, Department of Nephrology, Institute of Biomedical Research
Department of Medical and Molecular Genetics, Cancer Research UK Renal Molecular Oncology Research Group, Hereditary Endocrine Cancer Group, The Tumour Bank, Department of Nephrology, Institute of Biomedical Research

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The molecular genetics of inherited phaeochromocytoma have received considerable attention, but the somatic genetic and epigenetic events that characterise tumourigenesis in sporadic phaeochromocytomas are less well defined. Previously, we found considerable overlap between patterns of promoter region tumour suppressor gene (TSG) hypermethylation in two neural crest tumours, neuroblastoma and phaeochromocytoma. In order to identify candidate biomarkers and epigenetically inactivated TSGs in phaeochromocytoma and neuroblastoma, we characterised changes in gene expression in three neuroblastoma cell lines after treatment with the demethylating agent 5-azacytidine. Promoter region methylation status was then determined for 28 genes that demonstrated increased expression after demethylation. Three genes HSP47, homeobox A9 (HOXA9) and opioid binding protein (OPCML) were methylated in >10% of phaeochromocytomas (52, 17 and 12% respectively). Two of the genes, epithelial membrane protein 3 (EMP3) and HSP47, demonstrated significantly more frequent methylation in neuroblastoma than phaeochromocytoma. These findings extend epigenotype of phaeochromocytoma and identify candidate genes implicated in sporadic phaeochromocytoma tumourigenesis.

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Dewi Astuti Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK
Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK

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Christopher J Ricketts Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK
Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK

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Rasheduzzaman Chowdhury Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK

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Michael A McDonough Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK

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Dean Gentle Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK
Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK

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Gail Kirby Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK
Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK

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Susanne Schlisio Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK
Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK

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Rajappa S Kenchappa Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK

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Bruce D Carter Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK

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William G Kaelin Jr Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK

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Peter J Ratcliffe Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK

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Christopher J Schofield Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK

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Farida Latif Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK
Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK

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Eamonn R Maher Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK
Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK
Centre for Rare Diseases and Personalised Medicine, CRUK Renal Molecular Oncology Group, Chemistry Research Laboratory, Howard Hughes Medical Institute, Oxygen Sensing and Cancer Laboratory, Department of Biochemistry and Center for Molecular Neuroscience, Henry Wellcome Building for Molecular Physiology, West Midlands Regional Genetics Service, University of Birmingham, Birmingham B15 2TT, UK

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Germline mutations in the von Hippel–Lindau disease (VHL) and succinate dehydrogenase subunit B (SDHB) genes can cause inherited phaeochromocytoma and/or renal cell carcinoma (RCC). Dysregulation of the hypoxia-inducible factor (HIF) transcription factors has been linked to VHL and SDHB-related RCC; both HIF dysregulation and disordered function of a prolyl hydroxylase domain isoform 3 (PHD3/EGLN3)-related pathway of neuronal apoptosis have been linked to the development of phaeochromocytoma. The 2-oxoglutarate-dependent prolyl hydroxylase enzymes PHD1 (EGLN2), PHD2 (EGLN1) and PHD3 (EGLN3) have a key role in regulating the stability of HIF-α subunits (and hence expression of the HIF-α transcription factors). A germline PHD2 mutation has been reported in association with congenital erythrocytosis and recurrent extra-adrenal phaeochromocytoma. We undertook mutation analysis of PHD1, PHD2 and PHD3 in two cohorts of patients with features of inherited phaeochromocytoma (n=82) and inherited RCC (n=64) and no evidence of germline mutations in known susceptibility genes. No confirmed pathogenic mutations were detected suggesting that mutations in these genes are not a frequent cause of inherited phaeochromocytoma or RCC.

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