Cargando…

SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practice

The enzyme succinate dehydrogenase (SDH) functions in the citric acid cycle and loss of function predisposes to the development of phaeochromocytoma/paraganglioma (PPGL), wild type gastrointestinal stromal tumour (wtGIST) and renal cell carcinoma. SDH-deficient tumours are most commonly associated w...

Descripción completa

Detalles Bibliográficos
Autores principales:	Casey, Ruth T., ten Hoopen, Rogier, Ochoa, Eguzkine, Challis, Benjamin G., Whitworth, James, Smith, Philip S., Martin, Jose Ezequiel, Clark, Graeme R., Rodger, Fay, Maranian, Mel, Allinson, Kieren, Madhu, Basetti, Roberts, Thomas, Campos, Luis, Anstee, Joanne, Park, Soo-Mi, Marker, Alison, Watts, Colin, Bulusu, Venkata R., Giger, Olivier T., Maher, Eamonn R.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2019
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6629852/ https://www.ncbi.nlm.nih.gov/pubmed/31308404 http://dx.doi.org/10.1038/s41598-019-46124-9

Ejemplares similares

The role of [(68) Ga]Ga-DOTATATE PET/CT in wild-type KIT/PDGFRA gastrointestinal stromal tumours (GIST)
por: Aloj, Luigi, et al.
Publicado: (2021)

Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD
por: Andrews, Katrina A, et al.
Publicado: (2018)

Familial wild-type gastrointestinal stromal tumour in association with germline truncating variants in both SDHA and PALB2
por: Whitworth, James, et al.
Publicado: (2021)

A SDHC Founder Mutation Causes Paragangliomas (PGLs) in the French Canadians: New Insights on the SDHC-Related PGL
por: Bourdeau, Isabelle, et al.
Publicado: (2016)

Correction: Tumour risks and genotype-phenotype correlations associated with germline variants in the succinate dehydrogenase subunit genes SDHB, SDHC, and SDHD
Publicado: (2019)

Exploration of human brain tumour metabolism using pairwise metabolite-metabolite correlation analysis (MMCA) of HR-MAS (1)H NMR spectra
por: Madhu, Basetti, et al.
Publicado: (2017)

OR08-05 Case Series Of French Canadian Patients With Paragangliomas Carrying The c.397C>T SDHC Mutation: Insights On SDHC Phenotype And Outcomes
por: Salle, Stefanie Parisien-La, et al.
Publicado: (2023)

Apc(Min/+) tumours and normal mouse small intestines show linear metabolite concentration and DNA cytosine hydroxymethylation gradients from pylorus to colon
por: Madhu, Basetti, et al.
Publicado: (2020)

SDHC methylation in gastrointestinal stromal tumors (GIST): a case report
por: Urbini, Milena, et al.
Publicado: (2015)

Aberrant Splicing of SDHC in Families With Unexplained Succinate Dehydrogenase-Deficient Paragangliomas
por: De Sousa, Sunita M C, et al.
Publicado: (2020)

Succinate dehydrogenase and MYC-associated factor X mutations in pituitary neuroendocrine tumours
por: Loughrey, Paul Benjamin, et al.
Publicado: (2022)

The action of β-hydroxybutyrate on the growth, metabolism and global histone H3 acetylation of spontaneous mouse mammary tumours: evidence of a β-hydroxybutyrate paradox
por: Rodrigues, Loreta M., et al.
Publicado: (2017)

SAT-315 SDHC Germline Mutation Carrier with Primary Paraganglioma of the Thyroid Gland
por: Lee, Hyunju, et al.
Publicado: (2019)

Cabergoline reduces 3-methoxytyramine in a SDHC patient with metastatic paraganglioma and prolactinoma
por: Hussein, Ziad, et al.
Publicado: (2021)

Systemic mastocytosis, in the context of a deleterious germline SDHC variant, treated with ripretinib
por: Saheb Kashaf, Sara, et al.
Publicado: (2023)

Breast cancer in multiple endocrine neoplasia type 1 (MEN1)
por: Cheah, Seong Keat, et al.
Publicado: (2021)

Survival Pathways of HIF-Deficient Tumour Cells: TCA Inhibition, Peroxisomal Fatty Acid Oxidation Activation and an AMPK-PGC-1α Hypoxia Sensor
por: Golinska, Monika A., et al.
Publicado: (2022)

Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients
por: Bennedbæk, Marc, et al.
Publicado: (2016)

A Unique Case of Metastatic, Functional, Hereditary Paraganglioma Associated With anSDHC Germline Mutation
por: Ong, Raquel Kristin S, et al.
Publicado: (2018)

Tumour-To-Tumour Metastasis
por: Salm, R.
Publicado: (1975)

Special Issue: Cancer Metabolism
por: Basetti, Madhu
Publicado: (2017)

Imaging and Spectroscopic-Based Methods to Understand Cancer Metabolism and Biology
por: Madhu, Basetti
Publicado: (2023)

An evaluation of the tumour endothelial marker CLEC14A as a therapeutic target in solid tumours
por: Robinson, Joseph, et al.
Publicado: (2020)

UK clinical practice guidelines for the management of gastrointestinal stromal tumours (GIST)
por: Judson, Ian, et al.
Publicado: (2017)

Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma
por: Bayley, Jean-Pierre, et al.
Publicado: (2006)

Investigating the role of somatic sequencing platforms for phaeochromocytoma and paraganglioma in a large UK cohort
por: Winzeler, Bettina, et al.
Publicado: (2021)

Epithelial to mesenchymal transition (EMT) is associated with attenuation of succinate dehydrogenase (SDH) in breast cancer through reduced expression of SDHC
por: Røsland, Gro V., et al.
Publicado: (2019)

BRAF V600E Mutant Lung Adenocarcinoma Presenting With a Skull Base Metastasis and Pituitary Adenoma Collision Tumour
por: Heritage, Sophie, et al.
Publicado: (2021)

Architects of Pituitary Tumour Growth
por: Sabatino, Maria Eugenia, et al.
Publicado: (2022)

Immunity to Transplanted Tumour: The Effect of Tumour Extracts on the Growth of Homologous Tumours in Rats
por: Baldwin, R. W.
Publicado: (1955)

Somatic mutations and single-cell transcriptomes reveal the root of malignant rhabdoid tumours
por: Custers, Lars, et al.
Publicado: (2021)

Vertebrobasilar circulation hemorrhages in childhood primary angiitis of the central nervous system
por: Hassan, Ahmad, et al.
Publicado: (2022)

Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort
por: Stoltze, Ulrik Kristoffer, et al.
Publicado: (2023)

Adult granulosa cell tumour of the testis: an uncommon tumour
por: Wahlstedt, Eric R, et al.
Publicado: (2022)

A Novel Transcriptome Approach to the Investigation of the Molecular Pathology of Vitreous and Retinal Detachment
por: Maranian, Mel, et al.
Publicado: (2022)

Non-canonical NOTCH3 signalling limits tumour angiogenesis
por: Lin, Shuheng, et al.
Publicado: (2017)

The Production of Malignant Tumours by Cobalt in the Rat: Intrathoracic Tumours
por: Heath, J. C., et al.
Publicado: (1962)

Intra-tumoural microvessel density in human solid tumours
por: Hasan, J, et al.
Publicado: (2002)

Rationale and design of a UK database for a rare cancer type: the GEM Registry for gastrointestinal stromal tumours
por: Bulusu, V R, et al.
Publicado: (2013)

Automated brain tumour detection and segmentation using superpixel-based extremely randomized trees in FLAIR MRI
por: Soltaninejad, Mohammadreza, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_bc4ak14kqmpgu1rk3tah81mng6