Associated Papers
In vivo and in vitro analysis of functional effects of the SDHD H50R variant.
Priya S et al.
Endocrine-related Cancer, 2025
Genetic Characterization of Turkish Patients with Pituitary Neuroendocrine Tumors.
Alavanda C et al.
Turkish Neurosurgery, 2025
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 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
Advancing precision oncology through systematic germline and tumor genetic analysis: The oncogenetic point of view on findings from a prospective multicenter clinical trial of 666 patients.
Mazel B et al.
Cancer Medicine, 2023
Variant curation and interpretation in hereditary cancer genes: An institutional experience in Latin America.
Manotas MC et al.
Molecular Genetics & Genomic Medicine, 2023
MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early-onset mitochondriopathy.
Pujol C et al.
Brain : a Journal of Neurology, 2023
Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?
Gruber LM et al.
Endocrine Oncology (bristol, England), 2023
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
Analytical Performance of NGS-Based Molecular Genetic Tests Used in the Diagnostic Workflow of Pheochromocytoma/Paraganglioma.
Sarkadi B et al.
Cancers, 2021
Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.
Wagener R et al.
European Journal of Human Genetics : Ejhg, 2021
The OSMR Gene Is Involved in Hirschsprung Associated Enterocolitis Susceptibility through an Altered Downstream Signaling.
Bachetti T et al.
International Journal of Molecular Sciences, 2021
Identification of MicroRNA-Related Tumorigenesis Variants and Genes in the Cancer Genome Atlas (TCGA) Data.
Li C et al.
Genes, 2020
Molecular mechanism of mitochondrial respiratory chain assembly and its relation to mitochondrial diseases.
Mukherjee S et al.
Mitochondrion, 2020
Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.
Pinheiro M et al.
Cancers, 2020
The Impact of Whole Genome Data on Therapeutic Decision-Making in Metastatic Prostate Cancer: A Retrospective Analysis.
Crumbaker M et al.
Cancers, 2020
PTEN in Hereditary and Sporadic Cancer.
Ngeow J et al.
Cold Spring Harbor Perspectives in Medicine, 2020
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
PTEN-opathies: from biological insights to evidence-based precision medicine.
Yehia L et al.
The Journal of Clinical Investigation, 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
65 YEARS OF THE DOUBLE HELIX: One gene, many endocrine and metabolic syndromes: PTEN-opathies and precision medicine.
Yehia L et al.
Endocrine-related Cancer, 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
A MUTYH germline mutation is associated with small intestinal neuroendocrine tumors.
Dumanski JP et al.
Endocrine-related Cancer, 2017
A novel molecular diagnostics platform for somatic and germline precision oncology.
Cabanillas R et al.
Molecular Genetics & Genomic Medicine, 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
Cowden syndrome-associated germline succinate dehydrogenase complex subunit D (SDHD) variants cause PTEN-mediated down-regulation of autophagy in thyroid cancer cells.
Yu W et al.
Human Molecular Genetics, 2017
Leptomeningeal dissemination of a low-grade lumbar paraganglioma: case report.
Thomson N et al.
Journal of Neurosurgery. Spine, 2017
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
Toward an improved definition of the genetic and tumor spectrum associated with SDH germ-line mutations.
Evenepoel L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories.
Wang J et al.
Genome Medicine, 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
Germline PTEN, SDHB-D, and KLLN alterations in endometrial cancer patients with Cowden and Cowden-like syndromes: an international, multicenter, prospective study.
Mahdi H et al.
Cancer, 2015
Cowden syndrome-associated germline SDHD variants alter PTEN nuclear translocation through SRC-induced PTEN oxidation.
Yu W et al.
Human Molecular Genetics, 2015
The genetic landscape of gastrointestinal stromal tumor lacking KIT and PDGFRA mutations.
Boikos SA et al.
Endocrine, 2014
Mutation screening in a Norwegian cohort with pheochromocytoma.
Sjursen W et al.
Familial Cancer, 2013
Next-generation sequencing for mitochondrial diseases: a wide diagnostic spectrum.
Vasta V et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2012
Germline SDHx variants modify breast and thyroid cancer risks in Cowden and Cowden-like syndrome via FAD/NAD-dependant destabilization of p53.
Ni Y et al.
Human Molecular Genetics, 2012
Over-representation of the G12S polymorphism of the SDHD gene in patients with MEN2A syndrome.
Lendvai N et al.
Clinics (sao Paulo, Brazil), 2012
[Single nucleotide polymorphisms of the genes related with spermatogenesis impairment].
Ying HQ et al.
Zhonghua Nan Ke Xue = National Journal of Andrology, 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