Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.P197R
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SDHB

NM_003000.3:p.P197R

Associated Papers

Functional Characterization of SDHB Variants Clarifies Hereditary Pheochromocytoma and Paraganglioma Risk and Genotype-Phenotype Relationships.

Lee S et al.

The Journal of Clinical Investigation, 2025

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

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

Advancing Precision Oncology in Hereditary Paraganglioma-Pheochromocytoma Syndromes: Integrated Interpretation and Data Sharing of the Germline and Tumor Genomes.

Rana HQ et al.

Cancers, 2024

38473309 (PubMed )
Supplement: cancers-16-00947-s001.zip › Supplementary_Table_S2_-_INT2GRATE___HPPGL_Variant_Data_for_Patients__in_Cohort_2_.xlsx › Sheet1

Research progress on the pathogenesis of the SDHB mutation and related diseases.

Liu C et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2023

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 › Missense_Variants

SDHB variant type impacts phenotype and malignancy in pheochromocytoma-paraganglioma.

Bayley JP et al.

Journal of Medical Genetics, 2023

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

Paraganglioma and other tumour detection rates in individuals with SDHx pathogenic variants by age of diagnosis and after the age of 50.

Greenberg SE et al.

Clinical Endocrinology, 2021

Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.

Kondrashova O et al.

Cancers, 2021

33917078 (PubMed )
Supplement: cancers-13-01762-s001.zip › Kondrashova_etal_Supp_Tables.xlsx › Table_S5

Functional significance of germline EPAS1 variants.

Dwight T et al.

Endocrine-related Cancer, 2021

Tumor detection rates in screening of individuals with SDHx-related hereditary paraganglioma-pheochromocytoma syndrome.

Greenberg SE et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32741965 (PubMed )
Supplement: NIHMS1619684-supplement-Supplemental_Tables_S1-S3.xlsx › Table_S2

Exome sequencing and characterization of 49,960 individuals in the UK Biobank.

Van Hout CV et al.

Nature, 2020

33087929 (PubMed )
Supplement: 41586_2020_2853_MOESM11_ESM.xlsx › Sheet1

Clinical characteristics and outcomes of SDHB-related pheochromocytoma and paraganglioma in children and adolescents.

Jochmanova I et al.

Journal of Cancer Research and Clinical Oncology, 2020

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

Rijken JA et al.

Cancers, 2019

Continued Tumor Reduction of Metastatic Pheochromocytoma/Paraganglioma Harboring Succinate Dehydrogenase Subunit B Mutations with Cyclical Chemotherapy.

Jawed I et al.

Cellular and Molecular Neurobiology, 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

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

SDHB-related pheochromocytoma and paraganglioma penetrance and genotype-phenotype correlations.

Jochmanova I et al.

Journal of Cancer Research and Clinical Oncology, 2017

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

Niemeijer ND et al.

European Journal of Endocrinology, 2017

Analysis of SDHAF3 in familial and sporadic pheochromocytoma and paraganglioma.

Dwight T et al.

Bmc Cancer, 2017

Utility of the succinate: Fumarate ratio for assessing SDH dysfunction in different tumor types.

Kim E et al.

Molecular Genetics and Metabolism Reports, 2017

28070496 (PubMed )
Supplement: mmc5.xlsx › Sheet1

Succinate Dehydrogenase B (SDHB)-Associated Bladder Paragangliomas.

Srirangalingam U et al.

Clinical Genitourinary Cancer, 2017

Structural and functional consequences of succinate dehydrogenase subunit B mutations.

Kim E et al.

Endocrine-related Cancer, 2015

Phenotype of SDHB mutation carriers in the Netherlands.

van Hulsteijn LT et al.

Familial Cancer, 2014

Role of rapid sequence whole-body MRI screening in SDH-associated hereditary paraganglioma families.

Jasperson KW et al.

Familial Cancer, 2014

[The mutations of germline succinate dehydrogrnase subunit B (SDHB) in sporadic paragangliomas].

Zu TJ et al.

Shanghai Kou Qiang Yi Xue = Shanghai Journal of Stomatology, 2011

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

Mutations in the C. elegans succinate dehydrogenase iron-sulfur subunit promote superoxide generation and premature aging.

Huang J et al.

Journal of Molecular Biology, 2009

Clinical manifestations of familial paraganglioma and phaeochromocytomas in succinate dehydrogenase B (SDH-B) gene mutation carriers.

Srirangalingam U et al.

Clinical Endocrinology, 2008

Cells silenced for SDHB expression display characteristic features of the tumor phenotype.

Cervera AM et al.

Cancer Research, 2008

The occurrence of SDHB gene mutations in pheochromocytoma.

Van Nederveen FH et al.

Annals of the New York Academy of Sciences, 2006

Mutations of the SDHB and SDHD genes.

Pawlu C et al.

Familial Cancer, 2005

SDHB, SDHC, and SDHD mutation screen in sporadic and familial head and neck paragangliomas.

Mhatre AN et al.

Clinical Genetics, 2004

A thyroid nodule revealing a paraganglioma in a patient with a new germline mutation in the succinate dehydrogenase B gene.

Zantour B et al.

European Journal of Endocrinology, 2004

Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility.

Astuti D et al.

Clinical Endocrinology, 2003

Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas.

Gimenez-Roqueplo AP et al.

Cancer Research, 2003

Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas.

Benn DE et al.

Oncogene, 2003

Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma.

Gimenez-Roqueplo AP et al.

The Journal of Clinical Endocrinology and Metabolism, 2002

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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."