Associated Papers
Genomic Profiling of Highly Aggressive Musculoskeletal Sarcomas Identifies Potential Therapeutic Targets: A Single-Center Experience.
Parra A et al.
Cancers, 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
BRAF mutations and targeted therapy in unclassified pericytic tumors: insights from genetic analysis and clinical response.
Golan H et al.
Bmc Cancer, 2025
Genetic landscape of Romanian PPGLs.
Lider-Burciulescu SM et al.
Journal of Cellular and Molecular Medicine, 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
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
Real-world performance analysis of a novel computational method in the precision oncology of pediatric tumors.
Vodicska B et al.
World Journal of Pediatrics : Wjp, 2023
Extensive intratumor regional epigenetic heterogeneity in clear cell renal cell carcinoma targets kidney enhancers and is associated with poor outcome.
El Khoury LY et al.
Clinical Epigenetics, 2023
Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.
Álvarez-Prado ÁF et al.
Cell Reports. Medicine, 2023
Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?
Gruber LM et al.
Endocrine Oncology (bristol, England), 2023
Genomic analysis of breast cancer patients from Kerala: A novel BRCA1 mutation detected.
Dharmarajan A et al.
Breast Disease, 2023
Genomic analysis of a Palestinian family with inherited cancer syndrome: a next-generation sequencing study.
Fares E et al.
Frontiers in Genetics, 2023
Somatic Mutations Alter Interleukin Signaling Pathways in Grade II Invasive Breast Cancer Patients: An Egyptian Experience.
Nassar A et al.
Current Issues in Molecular Biology, 2022
Succinate dehydrogenase and MYC-associated factor X mutations in pituitary neuroendocrine tumours.
Loughrey PB et al.
Endocrine-related Cancer, 2022
Germline mutations in mitochondrial complex I reveal genetic and targetable vulnerability in IDH1-mutant acute myeloid leukaemia.
Bassal MA et al.
Nature Communications, 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
Hereditary variants of unknown significance in African American women with breast cancer.
McDonald JT et al.
Plos One, 2022
Clinical and genetic characteristics in patients under 30 years with sporadic pituitary adenomas.
Martínez de LaPiscina I et al.
European Journal of Endocrinology, 2021
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
von Stedingk K et al.
Scientific Reports, 2021
Identification of MicroRNA-Related Tumorigenesis Variants and Genes in the Cancer Genome Atlas (TCGA) Data.
Li C et al.
Genes, 2020
Genotype-phenotype associations in PPGLs in 59 patients with variants in SDHX genes.
Main AM et al.
Endocrine Connections, 2020
Limited Practical Utility of Liquid Biopsy in the Treated Patients with Advanced Breast Cancer.
Niwinska A et al.
Diagnostics (basel, Switzerland), 2020
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
Toward automation of germline variant curation in clinical cancer genetics.
Ravichandran V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
The 3PAs: An Update on the Association of Pheochromocytomas, Paragangliomas, and Pituitary Tumors.
Xekouki P et al.
Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2019
Molecular Profiling of Hard-to-Treat Childhood and Adolescent Cancers.
Khater F et al.
Jama Network Open, 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
Clinical significance and peculiarities of succinate dehydrogenase B and hypoxia inducible factor 1α expression in parasympathetic versus sympathetic paragangliomas.
Bernardo-Castiñeira C et al.
Head & Neck, 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
SDHB-related pheochromocytoma and paraganglioma penetrance and genotype-phenotype correlations.
Jochmanova I et al.
Journal of Cancer Research and Clinical Oncology, 2017
A MUTYH germline mutation is associated with small intestinal neuroendocrine tumors.
Dumanski JP et al.
Endocrine-related Cancer, 2017
A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.
Melloni GEM et al.
Breast Cancer Research : Bcr, 2017
Comparative genomic analysis of primary tumors and metastases in breast cancer.
Bertucci F et al.
Oncotarget, 2016
[Retrospective NGS Study in High-risk Hereditary Cancer Patients at Masaryk Memorial Cancer Institute].
Macháčková E et al.
Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2016
Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients.
Bennedbæk M et al.
Hereditary Cancer in Clinical Practice, 2016
Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.
He KY et al.
Plos One, 2016
Coexistence of paraganglioma/pheochromocytoma and papillary thyroid carcinoma: a four-case series analysis.
Bugalho MJ et al.
Familial Cancer, 2015
Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.
Karageorgos I et al.
Human Genomics, 2015
Pituitary adenoma with paraganglioma/pheochromocytoma (3PAs) and succinate dehydrogenase defects in humans and mice.
Xekouki P et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
Germline and somatic SDHx alterations in apparently sporadic differentiated thyroid cancer.
Ni Y et al.
Endocrine-related Cancer, 2015