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
Succinate dehydrogenase-related pheochromocytoma and paraganglioma (SDHx-PPGL): clinical and genetic insights from an Indian study.
Ambulkar KS et al.
Endocrine Connections, 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
Exclusion-based exome sequencing in critically ill adults 18-40 years old has a 24% diagnostic rate and finds racial disparities in access to genetic testing.
Gold JI et al.
American Journal of Human Genetics, 2025
Keratin 20 positive SDH-deficient renal cell carcinoma: a case report and literature review.
Dong SS et al.
Diagnostic Pathology, 2024
Genetic predisposition to pheochromocytoma and paraganglioma: 21 years of experience in the field.
Cardot-Bauters C et al.
Annales D'endocrinologie, 2024
Universal Exome Sequencing in Critically Ill Adults: A Diagnostic Yield of 25% and Race-Based Disparities in Access to Genetic Testing.
Gold J et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.
Gusakova M et al.
Frontiers in Oncology, 2024
Research progress on the pathogenesis of the SDHB mutation and related diseases.
Liu C et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2023
The Mutational, Prognostic, and Therapeutic Landscape of Neuroendocrine Neoplasms.
Liu M et al.
The Oncologist, 2023
Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.
Rosenberg S et al.
Molecular Oncology, 2023
Distortion in transmission of pathogenic SDHB- and SDHD-mutated alleles from parent to offspring.
Davidoff DF et al.
Endocrine-related Cancer, 2023
Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome.
Subasri V et al.
Cancer Research Communications, 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
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
Correlation of treatment outcome in sanger/RT‑qPCR KIT/PDGFRA wild‑type metastatic gastrointestinal stromal tumors with next‑generation sequencing results: A single‑center report.
Unk M et al.
Oncology Reports, 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
Head/neck paragangliomas: focus on tumor location, mutational status and plasma methoxytyramine.
Richter S et al.
Endocrine-related Cancer, 2022
Increased expression of Nrf2 and elevated glucose uptake in pheochromocytoma and paraganglioma with SDHB gene mutation.
Kamai T et al.
Bmc Cancer, 2022
Establishment of Patient-Derived Succinate Dehydrogenase-Deficient Gastrointestinal Stromal Tumor Models for Predicting Therapeutic Response.
Yebra M et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022
Carotid body tumor with neck metastasis due to germline SDHB variant: a case report and literature review.
Mikoshiba T et al.
International Cancer Conference Journal, 2022
Kidney tumors associated with germline mutations of FH and SDHB show a CpG island methylator phenotype (CIMP).
Ricketts CJ et al.
Plos One, 2022
SDHB exon 1 deletion: A recurrent germline mutation in Colombian patients with pheochromocytomas and paragangliomas.
Manotas MC et al.
Frontiers in Genetics, 2022
A rare case of multiple paragangliomas in the head and neck, retroperitoneum and duodenum: A case report and review of the literature.
Kawanabe S et al.
Frontiers in Endocrinology, 2022
Cost-minimization analysis of sequential genetic testing versus targeted next-generation sequencing gene panels in patients with pheochromocytoma and paraganglioma.
Pipitprapat W et al.
Annals of Medicine, 2021
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
Concurrent Urinary Bladder Paraganglioma and Adrenal Phaeochromocytoma With Succinate Dehydrogenase-B Mutation.
Hafiz B et al.
Cureus, 2021
Clinically Advanced Pheochromocytomas and Paragangliomas: A Comprehensive Genomic Profiling Study.
Bratslavsky G et al.
Cancers, 2021
Frequency and spectrum of mutations across 94 cancer predisposition genes in African American women with invasive breast cancer.
Lovejoy LA et al.
Familial Cancer, 2021
Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer.
Moradian MM et al.
Human Genome Variation, 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
One genotype, many phenotypes: SDHB p.R90X mutation-associated paragangliomas.
Alzahrani AS et al.
Endocrine, 2020
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
Genetic and Clinical Profiles of Pheochromocytoma and Paraganglioma: A Single Center Study.
Ma X et al.
Frontiers in Endocrinology, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Mutational profile and genotype/phenotype correlation of non-familial pheochromocytoma and paraganglioma.
Albattal S et al.
Oncotarget, 2019
[Clinicopathological features of succinate dehydrogenase-deficient renal cell carcinoma].
Xiao Q et al.
Zhonghua Bing Li Xue Za Zhi = Chinese Journal of Pathology, 2019