Varaico: Literature-Extracted Genetic Variants

Gene:SDHD
Variant:p.Q109*
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SDHD

NM_003002.4:p.Q109*

Associated Papers

Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.

Yuen J et al.

European Journal of Human Genetics : Ejhg, 2025

39843919 (PubMed )
Supplement: 41431_2025_1785_MOESM2_ESM.pdf

Distortion in transmission of pathogenic SDHB- and SDHD-mutated alleles from parent to offspring.

Davidoff DF et al.

Endocrine-related Cancer, 2023

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

The SDHD:p.H102R Variant Is Frequent in Russian Patients with Head and Neck Paragangliomas and Associated with Loss of 11p15.5 Region and Hypermethylation of H19-DMR.

Snezhkina A et al.

International Journal of Molecular Sciences, 2022

Germline Pathogenic Variants Identified by Targeted Next-Generation Sequencing of Susceptibility Genes in Pheochromocytoma and Paraganglioma.

Yalcintepe S et al.

Journal of Kidney Cancer and Vhl, 2021

Characteristics and genetic testing outcomes of patients with clinically suspected paraganglioma/pheochromocytoma (PGL/PCC) syndrome in Singapore.

Ting KR et al.

Hereditary Cancer in Clinical Practice, 2020

Tumor multifocality with vagus nerve involvement as a phenotypic marker of SDHD mutation in patients with head and neck paragangliomas: A 18 F-FDOPA PET/CT study.

Amodru V et al.

Head & Neck, 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

30050099 (PubMed )
Supplement: NIHMS1505462-supplement-Supplementary_information_3.xlsx › SDHx_variants

The spectrum of SDHD mutations in Russian patients with head and neck paraganglioma.

Shulskaya MV et al.

The International Journal of Neuroscience, 2018

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

Genetic and epigenetic patterns in patients with the head-and-neck paragangliomas associate with differential clinical characteristics.

Chen H et al.

Journal of Cancer Research and Clinical Oncology, 2017

Potential Pitfalls of SDH Immunohistochemical Detection in Paragangliomas and Phaeochromocytomas Harbouring Germline SDHx Gene Mutation.

Santi R et al.

Anticancer Research, 2017

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Feliubadaló L et al.

Scientific Reports, 2017

28050010 (PubMed )
Supplement: srep37984-s1.doc

In Vivo Detection of Succinate by Magnetic Resonance Spectroscopy as a Hallmark of SDHx Mutations in Paraganglioma.

Lussey-Lepoutre C et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2016

Succinate dehydrogenase subunit B mutations modify human neuroblastoma cell metabolism and proliferation.

Rapizzi E et al.

Hormones & Cancer, 2014

Mitochondrial function and content in pheochromocytoma/paraganglioma of succinate dehydrogenase mutation carriers.

Rapizzi E et al.

Endocrine-related Cancer, 2012

Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients.

Piccini V et al.

Endocrine-related Cancer, 2012

Common genetic mutations in the start codon of the SDH subunit D gene among Chinese families with familial head and neck paragangliomas.

Wang CP et al.

Oral Oncology, 2012

Is the c.3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene due to a founder effect in Chinese head and neck paraganglioma patients?

Zha Y et al.

The Laryngoscope, 2011

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

SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma syndromes.

Pasini B et al.

Journal of Internal Medicine, 2009

Diagnosis and management of hereditary paraganglioma syndrome due to the F933>X67 SDHD mutation.

Marvin ML et al.

Head & Neck, 2009

Impact of screening kindreds for SDHD p.Cys11X as a common mutation associated with paraganglioma syndrome type 1.

Peczkowska M et al.

The Journal of Clinical Endocrinology and Metabolism, 2008

Novel SDHD germ-line mutations in pheochromocytoma patients.

Neumayer C et al.

European Journal of Clinical Investigation, 2007

Novel germline mutations in the SDHB and SDHD genes in Japanese pheochromocytomas.

Isobe K et al.

Hormone Research, 2007

Genetic basis of phaeochromocytoma and paraganglioma.

Benn DE et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2006

SDH mutations in patients affected by paraganglioma syndromes: a personal experience.

Mannelli M et al.

Annals of the New York Academy of Sciences, 2006

Paraganglioma syndrome: SDHB, SDHC, and SDHD mutations in head and neck paragangliomas.

Schiavi F et al.

Annals of the New York Academy of Sciences, 2006

Phenotype variability of neural crest derived tumours in six Italian families segregating the same founder SDHD mutation Q109X.

Simi L et al.

Journal of Medical Genetics, 2005

Mutation analysis of the SDHD gene in four kindreds with familial paraganglioma: description of one novel germline mutation.

Velasco A et al.

Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B, 2005

Mutations of the SDHB and SDHD genes.

Pawlu C et al.

Familial Cancer, 2005

Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases.

Riemann K et al.

Cancer Genetics and Cytogenetics, 2004

The pressure rises: update on the genetics of phaeochromocytoma.

Maher ER et al.

Human Molecular Genetics, 2002

Hereditary paraganglioma targets diverse paraganglia.

Baysal BE

Journal of Medical Genetics, 2002

Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.

Baysal BE et al.

Journal of Medical Genetics, 2002

Active succinate dehydrogenase (SDH) and lack of SDHD mutations in sporadic paragangliomas.

Braun S et al.

Anticancer Research, 0

A PATIENT WITH AN ATYPIC NECK MASS LESION.

Korkmaz FN et al.

Acta Endocrinologica (bucharest, Romania : 2005), 0

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