Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.C98R
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SDHB

NM_003000.3:p.C98R

Associated Papers

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 › Missense_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

34452955 (PubMed )
Supplement: jmedgenet-2020-107652supp002.xlsx › SDHB_variants

Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.

Garrett A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022

34906457 (PubMed )
Supplement: mmc1.xlsx › SupTable2_Variant_Counts

Increased Mortality in SDHB but Not in SDHD Pathogenic Variant Carriers.

Rijken JA et al.

Cancers, 2019

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

Nationwide study of patients with head and neck paragangliomas carrying SDHB germline mutations.

Rijken JA et al.

Bjs Open, 2018

The penetrance of paraganglioma and pheochromocytoma in SDHB germline mutation carriers.

Rijken JA et al.

Clinical Genetics, 2018

The phenotype of SDHB germline mutation carriers: a nationwide study.

Niemeijer ND et al.

European Journal of Endocrinology, 2017

Loss of maternal chromosome 11 is a signature event in SDHAF2, SDHD, and VHL-related paragangliomas, but less significant in SDHB-related paragangliomas.

Hoekstra AS et al.

Oncotarget, 2017

28099933 (PubMed )
Supplement: oncotarget-08-14525-s002.xls › tumors

Succinate Dehydrogenase B (SDHB)-Associated Bladder Paragangliomas.

Srirangalingam U et al.

Clinical Genitourinary Cancer, 2017

Calculating the optimal surveillance for head and neck paraganglioma in SDHB-mutation carriers.

Eijkelenkamp K et al.

Familial Cancer, 2017

SDHB-Deficient Cancers: The Role of Mutations That Impair Iron Sulfur Cluster Delivery.

Saxena N et al.

Journal of the National Cancer Institute, 2016

Telomerase reverse transcriptase promoter mutations in tumors originating from the adrenal gland and extra-adrenal paraganglia.

Papathomas TG et al.

Endocrine-related Cancer, 2014

Genetic screening for von Hippel-Lindau gene mutations in non-syndromic pheochromocytoma: low prevalence and false-positives or misdiagnosis indicate a need for caution.

Eisenhofer G et al.

Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2012

Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.

Ricketts CJ et al.

Human Mutation, 2010

An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis.

van Nederveen FH et al.

The Lancet. Oncology, 2009

Contrasting clinical manifestations of SDHB and VHL associated chromaffin tumours.

Srirangalingam U et al.

Endocrine-related Cancer, 2009

Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.

Benn DE et al.

The Journal of Clinical Endocrinology and Metabolism, 2006

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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."