Associated Papers
Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.
Yang W et al.
Journal of Translational Medicine, 2025
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
An Isolated Soft Tissue Ectopic Paraganglioma in the Head and Neck.
Sayeed S et al.
Head & Neck, 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
Multilocus Disease-Causing Genomic Variations for Genetic Disorders: Single Tertiary Centre Experience From Türkiye.
Kablan A et al.
Clinical Genetics, 2025
17.6% of patients in a German cohort with exocrine pancreatic cancer were diagnosed with a genetic tumor syndrome-a case for universal genetic testing?
William D et al.
Esmo Gastrointestinal Oncology, 2025
Comprehensive genomic and transcriptomic analysis enables molecularly guided therapy options in peritoneal and pleural mesothelioma.
Möhrmann L et al.
Esmo Open, 2025
Multi-omic analysis of SDHB-deficient pheochromocytomas and paragangliomas identifies metastasis and treatment-related molecular profiles.
Flynn A et al.
Nature Communications, 2025
Case Report: Rare multisystem metastasis in head and neck paraganglioma with SDHB pathogenic variant and KIF1B VUS manifested as FUO.
Yang Y et al.
Frontiers in Endocrinology, 2025
Genetic and clinical characteristics of genetic tumor syndromes in the central nervous system cancers: Implications for clinical practice.
Wang C et al.
Iscience, 2024
Novel Gene Variants in a Nationwide Cohort of Patients with Pheochromocytoma and Paraganglioma.
Martínez de Lapiscina I et al.
International Journal of Molecular Sciences, 2024
Germline Mutations and Phenotypic Associations in Korean Patients With Pheochromocytoma and Paraganglioma: A Multicenter Study and Literature Review.
Jo KH et al.
Annals of Laboratory Medicine, 2024
Secondary findings in genes related to cancer phenotypes in Turkish exome sequencing data from 2020 individuals.
Demir O et al.
American Journal of Medical Genetics. Part A, 2024
Keratin 20 positive SDH-deficient renal cell carcinoma: a case report and literature review.
Dong SS et al.
Diagnostic Pathology, 2024
[Succinate Dehydrogenase-Deficient Renal Cell Carcinoma: Clinicopathological Analysis of 11 Cases].
Pan X et al.
Sichuan Da Xue Xue Bao. Yi Xue Ban = Journal of Sichuan University. Medical Science Edition, 2024
Genetic predisposition to pheochromocytoma and paraganglioma: 21 years of experience in the field.
Cardot-Bauters C et al.
Annales D'endocrinologie, 2024
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
Research progress on the pathogenesis of the SDHB mutation and related diseases.
Liu C et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2023
Determination of genetic predisposition to early breast cancer in women of Kazakh ethnicity.
Zhunussova G et al.
Oncotarget, 2023
Embryonic stem cell factor FOXD3 (Genesis) defects in gastrointestinal stromal tumors.
Faucz FR et al.
Endocrine-related Cancer, 2023
Cytoplasmic HIF-2α as tissue biomarker to identify metastatic sympathetic paraganglioma.
Karakaya S et al.
Scientific Reports, 2023
Distortion in transmission of pathogenic SDHB- and SDHD-mutated alleles from parent to offspring.
Davidoff DF et al.
Endocrine-related Cancer, 2023
Molecular basis of carotid body tumor and associated clinical features in Japan identified by genomic, immunohistochemical, and clinical analyses.
Yoshihama K et al.
Clinical Genetics, 2023
Prevalence of germline mutations in cancer susceptibility genes in Chinese patients with renal cell carcinoma.
Feng H et al.
Translational Andrology and Urology, 2023
Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?
Gruber LM et al.
Endocrine Oncology (bristol, England), 2023
SDHB variant type impacts phenotype and malignancy in pheochromocytoma-paraganglioma.
Bayley JP et al.
Journal of Medical Genetics, 2023
Contribution of Inherited Variants to Hereditary Cancer Syndrome Predisposition.
Güleç Ceylan G et al.
The Tohoku Journal of Experimental Medicine, 2022
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
An exploration in pitfalls in interpreting SDHB immunohistochemistry.
Ding CC et al.
Histopathology, 2022
Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort.
Savatt JM et al.
Bmc Medicine, 2022
Genetic spectrum in a Canadian cohort of apparently sporadic pheochromocytomas and paragangliomas: New data on multigene panel retesting over time.
Parisien-La Salle S et al.
Clinical Endocrinology, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Head/neck paragangliomas: focus on tumor location, mutational status and plasma methoxytyramine.
Richter S et al.
Endocrine-related Cancer, 2022
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
Mutational Profile and Potential Molecular Therapeutic Targets of Pheochromocytoma.
Ma X et al.
Frontiers in Endocrinology, 2022
SDH-deficient renal cell carcinoma: A case report associated with a novel germline mutation.
Milionis V et al.
Clinical Case Reports, 2021
Prevalence of Germline Variants in a Large Cohort of Japanese Patients with Pheochromocytoma and/or Paraganglioma.
Yonamine M et al.
Cancers, 2021