ArticleJournal of medical genetics2018
Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes
Erratum issuedOpen access · hybridAbstract read
In one paragraph
Article in Journal of medical genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 134 papers, 6 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
134citing papers in PubMed, 6 pooled it
23.9field-weighted citation impact, top 1% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
134 citing papers in PubMed, 6 syntheses or guidelines pooled it, 246 citations in OpenAlex.
- Clinical characteristics and prognosis ofJournal of medical genetics · 2026Pooled it
- Japan Endocrine Society Clinical Practice Guideline for the Diagnosis and Management of Pheochromocytoma and Paraganglioma 2025.Endocrine journal · 2026Guideline
- Outcomes of SDHB Pathogenic Variant Carriers.The Journal of clinical endocrinology and metabolism · 2024Pooled it
- Characteristics, aetiology and implications for management of multiple primary renal tumours: a systematic review.European journal of human genetics : EJHG · 2024Pooled it
- Succinate Dehydrogenase Complex Iron Sulfur Subunit B (SDHB) Immunohistochemistry in Pheochromocytoma, Head and Neck Paraganglioma, Thoraco-Abdomino-Pelvic Paragangliomas: Is It a Good Idea to Use in Routine Work?Asian Pacific journal of cancer prevention : APJCP · 2021Pooled it
- Familial Kidney Cancer: Implications of New Syndromes and Molecular Insights.European urology · 2019Pooled it
- Vagus nerve-fibre preservation during resection of vagal paraganglioma: a case series with patient-reported outcomes.Journal of surgical case reports · 2026Article
- Advanced pelvic paraganglioma presenting as hematuria and urinary retention with a large intravesical mass: A case report.Urology case reports · 2026Article
- Succinate dehydrogenase-deficient cancer cells have increased susceptibility to Ym155-induced DNA damage.Endocrine-related cancer · 2026Article
- Synchronous Bilateral Shamblin Type III Carotid Body Tumors and Adrenal Pheochromocytoma with SDHD Mutation: A Rare Presentation, with Multimodality Imaging Findings.World journal of nuclear medicine · 2026Article
- Tumor risks and surveillance outcomes inEndocrine oncology (Bristol, England) · 2026Article
- Article
- Prognostic significance of Ki-67 in assessing the risk of progression, relapse or metastasis in pheochromocytomas and paragangliomas.Annals of medicine · 2025Article
- Single-Cell RNA-Seq Revealed the Immune Microenvironment Reprogramming by Dexmedetomidine Treatment in Ischemic Stroke.Molecular neurobiology · 2025Article
- Genetic Testing and Counselling for Hereditary Renal Carcinoma: What Do Clinicians Need to Know?European urology open science · 2025Review
- Quantitative proteomic analysis of pathological and physiological ovarian aging: model evaluation, molecular mechanisms, and identification of early biomarkers and therapeutic targets.Journal of ovarian research · 2025Article
- Cryo-EM structure of the yeast Saccharomyces cerevisiae SDH provides a template for eco-friendly fungicide discovery.Nature communications · 2025Article
- Coronary Artery Supply to a Cardiac Mass.JACC. Case reports · 2025Article
- Metabolic Effects of Succinate Dehydrogenase Loss in Cancer.Journal of cellular physiology · 2025Review
- Characterization of metabolic and imaging profiles in the diagnosis of succinate dehydrogenase- related hereditary pheochromocytomas and paragangliomas.Urologic oncology · 2025Article
74 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issuedCorrection:2019
Authors and funding
37 authors at 19 institutions in 3 countries.
Katrina A AndrewsDepartment of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre and Cancer Research UK Cambridge Cancer Centre and Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
David B AscherDepartment of Biochemistry, University of Cambridge, Cambridge, UK.
Douglas Eduardo Valente PiresDepartment of Biochemistry, University of Cambridge, Cambridge, UK.ORCID 0000-0002-3004-2119
Daniel R BarnesDepartment of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Lindsey VialardWest Midlands Regional Genetics service, Birmingham Women's Hospital, Birmingham, UK.
Ruth T CaseyDepartment of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre and Cancer Research UK Cambridge Cancer Centre and Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Nicola BradshawDepartment of Clinical Genetics, Queen Elizabeth University Hospital, Glasgow, UK.
Julian AdlardYorkshire Regional Genetics Service, St. James's University Hospital, Leeds, UK.
Simon AylwinDepartment of Endocrinology, King's College Hospital, London, UK.
Paul BrennanNorthern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Carole BrewerPeninsula Clinical Genetics Service, Royal Devon & Exeter Hospital, Exeter, UK.
Trevor ColeWest Midlands Regional Genetics service, Birmingham Women's Hospital, Birmingham, UK.
Jackie A CookDepartment of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK.
Rosemarie DavidsonDepartment of Clinical Genetics, Queen Elizabeth University Hospital, Glasgow, UK.
Alan DonaldsonDepartment of Clinical Genetics, St Michael's Hospital, Bristol, UK.
Alan FryerDepartment of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, UK.
Lynn GreenhalghDepartment of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, UK.
Shirley V HodgsonDepartment of Medical Genetics, St. George's University of London, London, UK.
Richard IrvingQueen Elizabeth Medical Centre, Queen Elizabeth Hospital, Birmingham, UK.
Fiona LallooManchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
Michelle McConachieEast of Scotland Regional Genetics Service, Ninewells Hospital and Medical School, Dundee, UK.
Vivienne P M McConnellNorthern Ireland Regional Genetics Service, Belfast City Hospital, Belfast Health & Social Care Trust, Belfast, UK.
Patrick J MorrisonNorthern Ireland Regional Genetics Service, Belfast City Hospital, Belfast Health & Social Care Trust, Belfast, UK.
Victoria MurdayDepartment of Clinical Genetics, Queen Elizabeth University Hospital, Glasgow, UK.
Soo-Mi ParkDepartment of Clinical Genetics, Addenbrooke's Treatment Centre, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Helen L SimpsonThe Wolfson Diabetes and Endocrine Clinic, Institute of Metabolic Science, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Katie SnapeDepartment of Medical Genetics, St. George's University of London, London, UK.
Susan StewartWest Midlands Regional Genetics service, Birmingham Women's Hospital, Birmingham, UK.
Susan E TomkinsDepartment of Clinical Genetics, St Michael's Hospital, Bristol, UK.
Yvonne WallisWest Midlands Regional Genetics service, Birmingham Women's Hospital, Birmingham, UK.
Louise IzattDepartment of Clinical Genetics, Guy's Hospital, London, UK.
David GoudieEast of Scotland Regional Genetics Service, Ninewells Hospital and Medical School, Dundee, UK.
Robert S LindsayInstitute of Cardiovascular & Medical Sciences, University of Glasgow, Glasgow, Scotland.
Colin G PerryInstitute of Cardiovascular & Medical Sciences, University of Glasgow, Glasgow, Scotland.
Emma R WoodwardManchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
Antonis C AntoniouDepartment of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Eamonn R MaherDepartment of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre and Cancer Research UK Cambridge Cancer Centre and Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.ORCID 0000-0002-6226-6918
University of Cambridge · GBBirmingham Women's Hospital · GBQueen Elizabeth University Hospital · GBBelfast Health and Social Care Trust · GBCambridge University Hospitals NHS Foundation Trust · GBNinewells Hospital · GBSt George's, University of London · GBSt Mary's Hospital · GBSt Michael's Hospital · GBUniversity of Glasgow · GBUniversity of Liverpool · GBGuy's Hospital · GBKing's College Hospital · GBNewcastle upon Tyne Hospitals NHS Foundation Trust · GBQueen Elizabeth Hospital Birmingham · GBRoyal Devon and Exeter Hospital · GBSheffield Children's Hospital · GBSt James's University Hospital · GBThe University of Melbourne · AU
Funding
British Heart Foundation PG/12/7/29365Cancer Research UK 20861Cancer Research UK C12292/A20861
Abstract
backgroundGermline pathogenic variants in
methodsA retrospective survey of 1832 individuals referred for genetic testing due to a personal or family history of phaeochromocytoma/paraganglioma. 876 patients (401 previously reported) had a germline mutation in
resultsTumour risks analysis provided novel penetrance estimates and genotype-phenotype correlations. In addition to tumour type susceptibility differences for individual genes, we confirmed that the
conclusionsOverall risks of clinically apparent tumours for
Indexed as
Adrenal Gland NeoplasmsAgedAged, 80 and overAge FactorsFemaleGenetic Association StudiesGenotypeGerm-Line MutationHeterozygoteHumansKaplan-Meier EstimateMaleMembrane ProteinsMiddle AgedMutation, MissenseParagangliomaMembrane ProteinsSDHB protein, humanSDHC protein, humanSDHD protein, humanSuccinate Dehydrogenasecancer: endocrinegenetic epidemiologygeneticsmolecular geneticsoncology
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY
Read underepoch 390
Registered trials
None linked
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.