Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.P56_H57delFs
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SDHB

NM_003000.3:p.P56_H57delFs

Associated Papers

Epigenetic and metabolic rewiring in metastatic pheochromocytomas and paragangliomas driven by SDHB mutations.

Cubiella T et al.

Communications Biology, 2026

Estimated global prevalence of genetic carriers of hereditary pheochromocytoma-paraganglioma syndrome in a large multiethnic genomic database.

Charoenngam N et al.

European Journal of Endocrinology, 2025

40974092 (PubMed )
Supplement: lvaf191_supplementary_data.docx

Multi-omic analysis of SDHB-deficient pheochromocytomas and paragangliomas identifies metastasis and treatment-related molecular profiles.

Flynn A et al.

Nature Communications, 2025

40097403 (PubMed )
Supplement: 41467_2025_57595_MOESM3_ESM.xlsx › Supplementary_Data_1

Keratin 20 positive SDH-deficient renal cell carcinoma: a case report and literature review.

Dong SS et al.

Diagnostic Pathology, 2024

Phase separation as a possible mechanism for dosage sensitivity.

Yang L et al.

Genome Biology, 2024

38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD_mutations

Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?

Gruber LM et al.

Endocrine Oncology (bristol, England), 2023

37434649 (PubMed )
Supplement: supplementary_table_1.xlsx › Truncating_Variants

International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma.

Ben Aim L et al.

Journal of Medical Genetics, 2022

Clinical and genetic characteristics in patients under 30 years with sporadic pituitary adenomas.

Martínez de LaPiscina I et al.

European Journal of Endocrinology, 2021

Metastatic Paraganglioma of the Spine With SDHB Mutation: Case Report and Review of the Literature.

Jabarkheel R et al.

International Journal of Spine Surgery, 2021

Surveillance of succinate dehydrogenase gene mutation carriers: Insights from a nationwide cohort.

Martins RG et al.

Clinical Endocrinology, 2020

Epigenetic Deregulation of Protocadherin PCDHGC3 in Pheochromocytomas/Paragangliomas Associated With SDHB Mutations.

Bernardo-Castiñeira C et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Capalbo A et al.

Plos Genetics, 2019

31589614 (PubMed )
Supplement: pgen.1008409.s003.xlsx › Secondary_Findings_P_LP_Variant

Positive/retained SDHB immunostaining in renal cell carcinomas associated to germline SDHB-deficiency: case report.

Ugarte-Camara M et al.

Diagnostic Pathology, 2019

Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.

Richter S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

Clinical significance and peculiarities of succinate dehydrogenase B and hypoxia inducible factor 1α expression in parasympathetic versus sympathetic paragangliomas.

Bernardo-Castiñeira C et al.

Head & Neck, 2019

Comprehensive Analysis of Germline Variants in Mexican Patients with Hereditary Breast and Ovarian Cancer Susceptibility.

Quezada Urban R et al.

Cancers, 2018

30262796 (PubMed )
Supplement: cancers-10-00361-s001.pdf

Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.

Andrews KA et al.

Journal of Medical Genetics, 2018

Succinate dehydrogenase deficiency in a PDGFRA mutated GIST.

Belinsky MG et al.

Bmc Cancer, 2017

Validation of a Next-Generation Sequencing Pipeline for the Molecular Diagnosis of Multiple Inherited Cancer Predisposing Syndromes.

Paulo P et al.

The Journal of Molecular Diagnostics : Jmd, 2017

Simultaneous KIT mutation and succinate dehydrogenase (SDH) deficiency in a patient with a gastrointestinal stromal tumour and Carney-Stratakis syndrome: a case report.

Jové M et al.

Histopathology, 2014

Genetic testing in head and neck paraganglioma: who, what, and why?

Sridhara SK et al.

Journal of Neurological Surgery. Part B, Skull Base, 2013

The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.

Burnichon N et al.

The Journal of Clinical Endocrinology and Metabolism, 2009

Genetics of pheochromocytoma and paraganglioma in Spanish patients.

Cascón A et al.

The Journal of Clinical Endocrinology and Metabolism, 2009

Germline SDHB mutations are common in patients with apparently sporadic sympathetic paragangliomas.

Klein RD et al.

Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B, 2008

Succinate dehydrogenase B gene mutations predict survival in patients with malignant pheochromocytomas or paragangliomas.

Amar L et al.

The Journal of Clinical Endocrinology and Metabolism, 2007

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."