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

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.

[1]  B. Devlin,et al.  Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. , 2000, Science.

[2]  Ulrich Müller,et al.  Mutations in SDHC cause autosomal dominant paraganglioma, type 3 , 2000, Nature Genetics.

[3]  E S Husebye,et al.  Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. , 2001, American journal of human genetics.

[4]  D. Evans,et al.  Germline SDHD mutation in familial phaeochromocytoma , 2001, The Lancet.

[5]  W. Boron,et al.  Medical physiology : a cellular and molecular approach , 2002 .

[6]  P. Rustin,et al.  Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas. , 2003, Cancer research.

[7]  B. Lemire,et al.  The Quaternary Structure of the Saccharomyces cerevisiae Succinate Dehydrogenase , 2004, Journal of Biological Chemistry.

[8]  C. Eng,et al.  Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. , 2004, JAMA.

[9]  M. Raponi,et al.  Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution. , 2005, Proceedings of the National Academy of Sciences of the United States of America.

[10]  H. Prokisch,et al.  Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA) , 2005, Journal of Neurology, Neurosurgery & Psychiatry.

[11]  P. Donnelly,et al.  A Fine-Scale Map of Recombination Rates and Hotspots Across the Human Genome , 2005, Science.

[12]  R. Ferrell,et al.  Sequence variation in human succinate dehydrogenase genes: evidence for long-term balancing selection on SDHA , 2007, BMC Biology.

[13]  E. Berry,et al.  3-Nitropropionic Acid Is a Suicide Inhibitor of Mitochondrial Respiration That, upon Oxidation by Complex II, Forms a Covalent Adduct with a Catalytic Base Arginine in the Active Site of the Enzyme* , 2005, Journal of Biological Chemistry.

[14]  J. Mullikin,et al.  Genomic features defining exonic variants that modulate splicing , 2010, Genome Biology.

[15]  Steven P. Gygi,et al.  SDH5, a Gene Required for Flavination of Succinate Dehydrogenase, Is Mutated in Paraganglioma , 2009, Science.

[16]  Patricia L. M. Dahia,et al.  Germline mutations in TMEM127 confer susceptibility to pheochromocytoma , 2010, Nature Genetics.

[17]  Agnieszka Maliszewska,et al.  Research resource: Transcriptional profiling reveals different pseudohypoxic signatures in SDHB and VHL-related pheochromocytomas. , 2010, Molecular endocrinology.

[18]  Fiona Douglas,et al.  Tumor risks and genotype–phenotype–proteotype analysis in 358 patients with germline mutations in SDHB and SDHD , 2010, Human mutation.

[19]  P. Bénit,et al.  SDHA is a tumor suppressor gene causing paraganglioma. , 2010, Human molecular genetics.

[20]  Jingyue Ju,et al.  Quantitative evaluation of all hexamers as exonic splicing elements. , 2011, Genome research.

[21]  A. Astolfi,et al.  A distinct pediatric-type gastrointestinal stromal tumor in adults: potential role of succinate dehydrogenase subunit A mutations. , 2011, The American journal of surgical pathology.

[22]  R. Casadio,et al.  SDHA loss-of-function mutations in KIT-PDGFRA wild-type gastrointestinal stromal tumors identified by massively parallel sequencing. , 2011, Journal of the National Cancer Institute.

[23]  Gaël Varoquaux,et al.  The NumPy Array: A Structure for Efficient Numerical Computation , 2011, Computing in Science & Engineering.

[24]  W. Dinjens,et al.  SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas. , 2011, The Journal of clinical endocrinology and metabolism.

[25]  M. Urioste,et al.  MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma , 2012, Clinical Cancer Research.

[26]  K. Kita,et al.  Crystal structure of mitochondrial quinol-fumarate reductase from the parasitic nematode Ascaris suum. , 2012, Journal of biochemistry.

[27]  C. Stratakis,et al.  Succinate dehydrogenase (SDHx) mutations in pituitary tumors: could this be a new role for mitochondrial complex II and/or Krebs cycle defects? , 2012, Endocrine-related cancer.

[28]  N. Socci,et al.  SDHA loss of function mutations in a subset of young adult wild-type gastrointestinal stromal tumors , 2012, BMC Cancer.

[29]  J. Prchal,et al.  A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma , 2012, Journal of Molecular Medicine.

[30]  T. Dwight,et al.  Familial SDHA mutation associated with pituitary adenoma and pheochromocytoma/paraganglioma. , 2013, The Journal of clinical endocrinology and metabolism.

[31]  L. Hurst,et al.  The evolution, impact and properties of exonic splice enhancers , 2013, Genome Biology.

[32]  M. von Mehren,et al.  Succinate Dehydrogenase Deficiency in Pediatric and Adult Gastrointestinal Stromal Tumors , 2013, Front. Oncol..

[33]  M. O'sullivan,et al.  SDHA mutations in adult and pediatric wild-type gastrointestinal stromal tumors , 2013, Modern Pathology.

[34]  D. Flieder,et al.  Overexpression of insulin‐like growth factor 1 receptor and frequent mutational inactivation of SDHA in wild‐type SDHB‐negative gastrointestinal stromal tumors , 2013, Genes, chromosomes & cancer.

[35]  L. Lipton,et al.  Loss of SDHA Expression Identifies SDHA Mutations in Succinate Dehydrogenase–deficient Gastrointestinal Stromal Tumors , 2013, The American journal of surgical pathology.

[36]  P. Meltzer,et al.  Immunohistochemical Loss of Succinate Dehydrogenase Subunit A (SDHA) in Gastrointestinal Stromal Tumors (GISTs) Signals SDHA Germline Mutation , 2013, The American journal of surgical pathology.

[37]  Laurence Amar,et al.  SDH mutations establish a hypermethylator phenotype in paraganglioma. , 2013, Cancer cell.

[38]  U. Srirangalingam,et al.  Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non‐syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma , 2013, Clinical endocrinology.

[39]  S. George,et al.  Loss of expression of SDHA predicts SDHA mutations in gastrointestinal stromal tumors , 2013, Modern Pathology.

[40]  T. Frebourg,et al.  Functional Analysis of a Large set of BRCA2 exon 7 Variants Highlights the Predictive Value of Hexamer Scores in Detecting Alterations of Exonic Splicing Regulatory Elements , 2013, Human mutation.

[41]  M. Korbonits,et al.  A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma. , 2013, The Journal of clinical endocrinology and metabolism.

[42]  Douglas E. V. Pires,et al.  DUET: a server for predicting effects of mutations on protein stability using an integrated computational approach , 2014, Nucleic Acids Res..

[43]  T. Dwight,et al.  Succinate Dehydrogenase Deficiency Is Rare in Pituitary Adenomas , 2014, The American journal of surgical pathology.

[44]  Douglas E. V. Pires,et al.  mCSM: predicting the effects of mutations in proteins using graph-based signatures , 2013, Bioinform..

[45]  R. Casadio,et al.  Analysis of all subunits, SDHA, SDHB, SDHC, SDHD, of the succinate dehydrogenase complex in KIT/PDGFRA wild-type GIST , 2013, European Journal of Human Genetics.

[46]  J. Lasota,et al.  Succinate dehydrogenase deficient gastrointestinal stromal tumors (GISTs) - a review. , 2014, The international journal of biochemistry & cell biology.

[47]  U. Shankavaram,et al.  Germ-line PHD1 and PHD2 mutations detected in patients with pheochromocytoma/paraganglioma-polycythemia , 2014, Journal of Molecular Medicine.

[48]  J. Ross,et al.  A Novel SDHA-deficient Renal Cell Carcinoma Revealed by Comprehensive Genomic Profiling , 2015, The American journal of surgical pathology.

[49]  A. Tischler,et al.  SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T) , 2015, Modern Pathology.

[50]  Douglas E. V. Pires,et al.  Platinum: a database of experimentally measured effects of mutations on structurally defined protein–ligand complexes , 2014, Nucleic Acids Res..

[51]  W. Dinjens,et al.  Toward an improved definition of the genetic and tumor spectrum associated with SDH germ-line mutations , 2014, Genetics in Medicine.

[52]  G. Netto,et al.  Renal carcinoma associated with a novel succinate dehydrogenase A mutation: a case report and review of literature of a rare subtype of renal carcinoma. , 2015, Human pathology.

[53]  P. Bénit,et al.  In Vivo Detection of Succinate by Magnetic Resonance Spectroscopy as a Hallmark of SDHx Mutations in Paraganglioma , 2015, Clinical Cancer Research.

[54]  Yingyong Hou,et al.  A novel germline mutation in SDHA identified in a rare case of gastrointestinal stromal tumor complicated with renal cell carcinoma. , 2015, International journal of clinical and experimental pathology.

[55]  C. Stratakis,et al.  Metabolome Profiling by HRMAS NMR Spectroscopy of Pheochromocytomas and Paragangliomas Detects SDH Deficiency: Clinical and Pathophysiological Implications12 , 2015, Neoplasia.

[56]  W. Dinjens,et al.  Succinate Dehydrogenase (SDH)-Deficient Pancreatic Neuroendocrine Tumor Expands the SDH-Related Tumor Spectrum. , 2015, The Journal of clinical endocrinology and metabolism.

[57]  Bale,et al.  Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.

[58]  Emma M. Rath,et al.  Structural and functional consequences of succinate dehydrogenase subunit B mutations. , 2015, Endocrine-related cancer.

[59]  P. Meltzer,et al.  Molecular Subtypes of KIT/PDGFRA Wild-Type Gastrointestinal Stromal Tumors: A Report From the National Institutes of Health Gastrointestinal Stromal Tumor Clinic. , 2016, JAMA oncology.

[60]  T. Frebourg,et al.  Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools , 2016, PLoS genetics.

[61]  Douglas E. V. Pires,et al.  In silico functional dissection of saturation mutagenesis: Interpreting the relationship between phenotypes and changes in protein stability, interactions and activity , 2016, Scientific Reports.

[62]  J. Valcárcel,et al.  The complete local genotype–phenotype landscape for the alternative splicing of a human exon , 2016, Nature Communications.

[63]  Douglas E. V. Pires,et al.  CSM-lig: a web server for assessing and comparing protein–small molecule affinities , 2016, Nucleic Acids Res..

[64]  L. Hurst,et al.  Determinants of the Usage of Splice-Associated cis-Motifs Predict the Distribution of Human Pathogenic SNPs , 2015, Molecular biology and evolution.