Cargando…

SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity

PURPOSE: To evaluate the role of germline SDHA mutation analysis by (1) comprehensive literature review, (2) description of novel germline SDHA mutations and (3) in silico structural prediction analysis of missense substitutions in SDHA. PATIENTS AND METHODS: A systematic literature review and a ret...

Descripción completa

Detalles Bibliográficos
Autores principales:	Casey, Ruth T., Ascher, David B., Rattenberry, Eleanor, Izatt, Louise, Andrews, Katrina A., Simpson, Helen L., Challis, Benjamen, Park, Soo‐Mi, Bulusu, Venkata R., Lalloo, Fiona, Pires, Douglas E. V., West, Hannah, Clark, Graeme R., Smith, Philip S., Whitworth, James, Papathomas, Thomas G., Taniere, Phillipe, Savisaar, Rosina, Hurst, Laurence D., Woodward, Emma R., Maher, Eamonn R.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2017
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5441402/ https://www.ncbi.nlm.nih.gov/pubmed/28546994 http://dx.doi.org/10.1002/mgg3.279

Ejemplares similares

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

UK recommendations for SDHA germline genetic testing and surveillance in clinical practice
por: Hanson, Helen, et al.
Publicado: (2023)

A case of a metastatic SDHA mutated paraganglioma re-presenting twenty-three years after initial surgery
por: Casey, Ruth T, et al.
Publicado: (2017)

SDHA Germline Variants in Adult Patients With SDHA-Mutant Gastrointestinal Stromal Tumor
por: Pantaleo, Maria A., et al.
Publicado: (2022)

Purifying Selection on Exonic Splice Enhancers in Intronless Genes
por: Savisaar, Rosina, et al.
Publicado: (2016)

Estimating the prevalence of functional exonic splice regulatory information
por: Savisaar, Rosina, et al.
Publicado: (2017)

Exonic splice regulation imposes strong selection at synonymous sites
por: Savisaar, Rosina, et al.
Publicado: (2018)

Both Maintenance and Avoidance of RNA-Binding Protein Interactions Constrain Coding Sequence Evolution
por: Savisaar, Rosina, et al.
Publicado: (2017)

Germline SDHA mutations in children and adults with cancer
por: Dubard Gault, Marianne, et al.
Publicado: (2018)

SDHB and SDHA Immunohistochemistry in Canine Pheochromocytomas
por: Abed, Firas M., et al.
Publicado: (2020)

Pathogenicity and Penetrance of Germline SDHA Variants in Pheochromocytoma and Paraganglioma (PPGL)
por: Maniam, Pavithran, et al.
Publicado: (2018)

SdhA blocks disruption of the Legionella-containing vacuole by hijacking the OCRL phosphatase
por: Choi, Won Young, et al.
Publicado: (2021)

Elevated Endogenous SDHA Drives Pathological Metabolism in Highly Metastatic Uveal Melanoma
por: Chattopadhyay, Chandrani, et al.
Publicado: (2019)

Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review
por: Casey, Ruth T., et al.
Publicado: (2017)

Adrenocortical neoplasia: evolving concepts in tumorigenesis with an emphasis on adrenal cortical carcinoma variants
por: de Krijger, Ronald R., et al.
Publicado: (2011)

An unusual paraesophageal and diaphragmatic SDHA-deficient gastrointestinal stromal tumor (GIST) metastases case report
por: Teke, Martha E., et al.
Publicado: (2023)

Clinical, Diagnostic, and Treatment Characteristics of SDHA-Related Metastatic Pheochromocytoma and Paraganglioma
por: Jha, Abhishek, et al.
Publicado: (2019)

First-positive surveillance screening in an asymptomatic SDHA germline mutation carrier
por: White, Gemma, et al.
Publicado: (2019)

Somatic SDHA mutations in paragangliomas in siblings: Case report of 2 cases
por: Huang, Yen-Chun, et al.
Publicado: (2020)

Co-occurrence of VHL and SDHA Pathogenic Variants: A Case Report
por: Tung, Moon Ley, et al.
Publicado: (2022)

SDHA Germline Mutations in SDH-Deficient GISTs: A Current Update
por: Schipani, Angela, et al.
Publicado: (2023)

Flavinated SDHA underlies the change in intrinsic optical properties of oral cancers
por: Marumo, Tomoko, et al.
Publicado: (2023)

Flavinated SDHA Underlies the Change in Intrinsic Optical Properties of Oral Cancers
por: Marumo, Tomoko, et al.
Publicado: (2023)

Evidence in disease and non-disease contexts that nonsense mutations cause altered splicing via motif disruption
por: Abrahams, Liam, et al.
Publicado: (2021)

Penetrance estimates for BRCA1 and BRCA2 based on genetic testing in a Clinical Cancer Genetics service setting: Risks of breast/ovarian cancer quoted should reflect the cancer burden in the family
por: Evans, D Gareth, et al.
Publicado: (2008)

SDhaP: haplotype assembly for diploids and polyploids via semi-definite programming
por: Das, Shreepriya, et al.
Publicado: (2015)

SDHA loss of function mutations in a subset of young adult wild-type gastrointestinal stromal tumors
por: Italiano, Antoine, et al.
Publicado: (2012)

SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practice
por: Casey, Ruth T., et al.
Publicado: (2019)

MiR-31/SDHA Axis Regulates Reprogramming Efficiency through Mitochondrial Metabolism
por: Lee, Man Ryul, et al.
Publicado: (2016)

Sequence variation in human succinate dehydrogenase genes: evidence for long-term balancing selection on SDHA
por: Baysal, Bora E, et al.
Publicado: (2007)

Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency
por: Alston, Charlotte L, et al.
Publicado: (2012)

Computational prediction of human deep intronic variation
por: Barbosa, Pedro, et al.
Publicado: (2023)

A case of Carney triad complicated by renal cell carcinoma and a germline SDHA pathogenic variant
por: Wurth, Rachel, et al.
Publicado: (2021)

A Case of Carney Triad Complicated by Renal Cell Carcinoma and a Germline SDHA Pathogenic Variant
por: Wurth, Rachel, et al.
Publicado: (2021)

Spinal anaesthesia for ambulatory surgery
por: Rattenberry, W., et al.
Publicado: (2019)

Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum
por: Sturrock, Beattie R. H., et al.
Publicado: (2021)

Parity and breast cancer risk among BRCA1 and BRCA2 mutation carriers
por: Antoniou, Antonis C, et al.
Publicado: (2006)

Clinical Practice Guidance: Surveillance for phaeochromocytoma and paraganglioma in paediatric succinate dehydrogenase gene mutation carriers
por: Wong, Mei Yin, et al.
Publicado: (2019)

PIKE-A Modulates Mitochondrial Metabolism through Increasing SDHA Expression Mediated by STAT3/FTO Axis
por: Sun, Mingming, et al.
Publicado: (2022)

Codon Usage and Splicing Jointly Influence mRNA Localization
por: Mordstein, Christine, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_rk0nsl5179b5bgb19v04fg6ppt