The SDHD:p.H102R Variant Is Frequent in Russian Patients with Head and Neck Paragangliomas and Associated with Loss of 11p15.5 Region and Hypermethylation of H19-DMR.
International Journal Of Molecular Sciences
Snezhkina, Anastasiya A; Fedorova, Maria M; Kobelyatskaya, Anastasiya A; Markova, Daria D; Lantsova, Margarita M; Ikonnikova, Anna A; Emelyanova, Marina M; Kalinin, Dmitry D; Pudova, Elena E; Melnikova, Nataliya N; Dmitriev, Alexey A; Krasnov, George G; Pavlov, Vladislav V; Kudryavtseva, Anna A
Implementation of paediatric precision oncology into clinical practice: The Individualized Therapies for Children with cancer program 'iTHER'.
European Journal Of Cancer (Oxford, England : 1990)
Langenberg, Karin P S KPS; Meister, Michael T MT; Bakhuizen, Jette J JJ; Boer, Judith M JM; van Eijkelenburg, Natasha K A NKA; Hulleman, Esther E; Ilan, Uri U; Looze, Eleonora J EJ; Dierselhuis, Miranda P MP; van der Lugt, Jasper J; Breunis, Willemijn W; Schild, Linda G LG; Ober, Kimberley K; van Hooff, Sander R SR; Scheijde-Vermeulen, Marijn A MA; Hiemcke-Jiwa, Laura S LS; Flucke, Uta E UE; Kranendonk, Mariette E G MEG; Wesseling, Pieter P; Sonneveld, Edwin E; Punt, Simone S; Boltjes, Arjan A; van Dijk, Freerk F; Verwiel, Eugene T P ETP; Volckmann, Richard R; Hehir-Kwa, Jayne Y JY; Kester, Lennart A LA; Koudijs, Marco M J MMJ; Waanders, Esme E; Holstege, Frank C P FCP; Vormoor, H Josef HJ; Hoving, Eelco W EW; van Noesel, Max M MM; Pieters, Rob R; Kool, Marcel M; Stumpf, Miriam M; Blattner-Johnson, Mirjam M; Balasubramanian, Gnana P GP; Van Tilburg, Cornelis M CM; Jones, Barbara C BC; Jones, David T W DTW; Witt, Olaf O; Pfister, Stefan M SM; Jongmans, Marjolijn C J MCJ; Kuiper, Roland P RP; de Krijger, Ronald R RR; Wijnen, Marc H W MHW; den Boer, Monique L ML; Zwaan, C Michel CM; Kemmeren, Patrick P; Koster, Jan J; Tops, Bastiaan B J BBJ; Goemans, Bianca F BF; Molenaar, Jan J JJ
Publication Date: 2022-11
Variant appearance in text: SDHD: 274G>T; Asp92Tyr
Embryo tracking system for high-throughput sequencing-based preimplantation genetic testing.
Human Reproduction (Oxford, England)
van Dijk, Wanwisa W; Derks, Kasper K; Drüsedau, Marion M; Meekels, Jeroen J; Koeck, Rebekka R; Essers, Rick R; Dreesen, Joseph J; Coonen, Edith E; de Die-Smulders, Christine C; Stevens, Servi J C SJC; Brunner, Han G HG; van den Wijngaard, Arthur A; Paulussen, Aimée D C ADC; Zamani Esteki, Masoud M
Publication Date: 2022-10-31
Variant appearance in text: SDHD: 274G>T; Asp92Tyr
Succinate dehydrogenase and MYC-associated factor X mutations in pituitary neuroendocrine tumours.
Endocrine-Related Cancer
Loughrey, Paul Benjamin PB; Roncaroli, Federico F; Healy, Estelle E; Weir, Philip P; Basetti, Madhu M; Casey, Ruth T RT; Hunter, Steven J SJ; Korbonits, Márta M
Head/neck paragangliomas: focus on tumor location, mutational status and plasma methoxytyramine.
Endocrine-Related Cancer
Richter, Susan S; Qiu, Bei B; Ghering, Mirthe M; Kunath, Carola C; Constantinescu, Georgiana G; Luths, Charlotte C; Pamporaki, Christina C; Bechmann, Nicole N; Meuter, Leah L; Kwapiszewska, Aleksandra A; Deutschbein, Timo T; Nölting, Svenja S; Peitzsch, Mirko M; Robledo, Mercedes M; Prejbisz, Aleksander A; Pacak, Karel K; Gudziol, Volker V; Timmers, Henri J L M HJLM; Eisenhofer, Graeme G
Dutch founder SDHB exon 3 deletion in patients with pheochromocytoma-paraganglioma in South Africa.
Endocrine Connections
Gordon, Debra M DM; Beckers, Pablo P; Castermans, Emilie E; Neggers, Sebastian J C M M SJCMM; Rostomyan, Liliya L; Bours, Vincent V; Petrossians, Patrick P; Dideberg, Vinciane V; Beckers, Albert A; Daly, Adrian F AF
Publication Date: 2022-01-31
Variant appearance in text: SDHD: 274G>T; Asp92Tyr
Pavlov, Vladislav S VS; Kalinin, Dmitry V DV; Lukyanova, Elena N EN; Golovyuk, Alexander L AL; Fedorova, Maria S MS; Pudova, Elena A EA; Savvateeva, Maria V MV; Lipatova, Anastasiya V AV; Guvatova, Zulfiya G ZG; Kaprin, Andrey D AD; Kiseleva, Marina V MV; Demidova, Tatiana B TB; Simanovsky, Sergey A SA; Melnikova, Nataliya V NV; Dmitriev, Alexey A AA; Krasnov, George S GS; Snezhkina, Anastasiya V AV; Kudryavtseva, Anna V AV
Increased Mortality in SDHB but Not in SDHD Pathogenic Variant Carriers.
Cancers
Rijken, Johannes A JA; van Hulsteijn, Leonie T LT; Dekkers, Olaf M OM; Niemeijer, Nicolasine D ND; Leemans, C René CR; Eijkelenkamp, Karin K; van der Horst-Schrivers, Anouk N A ANA; Kerstens, Michiel N MN; van Berkel, Anouk A; Timmers, Henri J L M HJLM; Kunst, Henricus P M HPM; Bisschop, Peter H L T PHLT; Dreijerink, Koen M A KMA; van Dooren, Marieke F MF; Hes, Frederik J FJ; Jansen, Jeroen C JC; Corssmit, Eleonora P M EPM; Hensen, Erik F EF
Tumor multifocality with vagus nerve involvement as a phenotypic marker of SDHD mutation in patients with head and neck paragangliomas: A 18 F-FDOPA PET/CT study.
Head & Neck
Amodru, Vincent V; Romanet, Pauline P; Scemama, Ugo U; Montava, Marion M; Fakhry, Nicolas N; Sebag, Frédéric F; Castinetti, Frédéric F; Lavieille, Jean-Pierre JP; Loundou, Anderson A; Varoquaux, Arthur A; Barlier, Anne A; Pacak, Karel K; Taïeb, David D
Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Richter, Susan S; Gieldon, Laura L; Pang, Ying Y; Peitzsch, Mirko M; Huynh, Thanh T; Leton, Rocio R; Viana, Bruna B; Ercolino, Tonino T; Mangelis, Anastasios A; Rapizzi, Elena E; Menschikowski, Mario M; Aust, Daniela D; Kroiss, Matthias M; Beuschlein, Felix F; Gudziol, Volker V; Timmers, Henri Jlm HJ; Lenders, Jacques J; Mannelli, Massimo M; Cascon, Alberto A; Pacak, Karel K; Robledo, Mercedes M; Eisenhofer, Graeme G; Klink, Barbara B
Publication Date: 2019-03
Variant appearance in text: SDHD: 274G>T; Asp92Tyr; rs80338845
Clinical progression and metachronous paragangliomas in a large cohort of SDHD germline variant carriers.
European Journal Of Human Genetics : Ejhg
Heesterman, Berdine L BL; de Pont, Lisa M H LMH; van der Mey, Andel Gl AG; Bayley, Jean-Pierre JP; Corssmit, Eleonora Pm EP; Hes, Frederik J FJ; Verbist, Berit M BM; van Benthem, Peter Paul G PPG; Jansen, Jeroen C JC
Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.
Journal Of Medical Genetics
Andrews, Katrina A KA; Ascher, David B DB; Pires, Douglas Eduardo Valente DEV; Barnes, Daniel R DR; Vialard, Lindsey L; Casey, Ruth T RT; Bradshaw, Nicola N; Adlard, Julian J; Aylwin, Simon S; Brennan, Paul P; Brewer, Carole C; Cole, Trevor T; Cook, Jackie A JA; Davidson, Rosemarie R; Donaldson, Alan A; Fryer, Alan A; Greenhalgh, Lynn L; Hodgson, Shirley V SV; Irving, Richard R; Lalloo, Fiona F; McConachie, Michelle M; McConnell, Vivienne P M VPM; Morrison, Patrick J PJ; Murday, Victoria V; Park, Soo-Mi SM; Simpson, Helen L HL; Snape, Katie K; Stewart, Susan S; Tomkins, Susan E SE; Wallis, Yvonne Y; Izatt, Louise L; Goudie, David D; Lindsay, Robert S RS; Perry, Colin G CG; Woodward, Emma R ER; Antoniou, Antonis C AC; Maher, Eamonn R ER
Publication Date: 2018-06
Variant appearance in text: SDHD: 274G>T; Asp92Tyr
Age and Tumor Volume Predict Growth of Carotid and Vagal Body Paragangliomas.
Journal Of Neurological Surgery. Part B, Skull Base
Heesterman, Berdine L BL; de Pont, Lisa M H LMH; Verbist, Berit M BM; van der Mey, Andel G L AGL; Corssmit, Eleonora P M EPM; Hes, Frederik J FJ; van Benthem, Peter Paul G PPG; Jansen, Jeroen C JC
Publication Date: 2017-12
Variant appearance in text: SDHD: 274G>T; Asp92Tyr
Loss of maternal chromosome 11 is a signature event in SDHAF2, SDHD, and VHL-related paragangliomas, but less significant in SDHB-related paragangliomas.
Oncotarget
Hoekstra, Attje S AS; Hensen, Erik F EF; Jordanova, Ekaterina S ES; Korpershoek, Esther E; van der Horst-Schrivers, Anouk Na AN; Cornelisse, Cees C; Corssmit, Eleonora P M EP; Hes, Frederik J FJ; Jansen, Jeroen C JC; Kunst, Henricus P M HP; Timmers, Henri J L M HJ; Bateman, Adrian A; Eccles, Diana D; Bovée, Judith V M G JV; Devilee, Peter P; Bayley, Jean-Pierre JP
Evaluation of Head and Neck Paragangliomas by Computed Tomography in Patients with Pheochromocytoma-Paraganglioma Syndromes.
Polish Journal Of Radiology
Michałowska, Ilona I; Lewczuk, Anna A; Ćwikła, Jarosław J; Prejbisz, Aleksander A; Swoboda-Rydz, Urszula U; Furmanek, Mariusz I MI; Szperl, Małgorzata M; Januszewicz, Andrzej A; Pęczkowska, Mariola M
Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients.
Hereditary Cancer In Clinical Practice
Bennedbæk, Marc M; Rossing, Maria M; Rasmussen, Åse K ÅK; Gerdes, Anne-Marie AM; Skytte, Anne-Bine AB; Jensen, Uffe B UB; Nielsen, Finn C FC; Hansen, Thomas V O TVO
Inactivation of SDH and FH cause loss of 5hmC and increased H3K9me3 in paraganglioma/pheochromocytoma and smooth muscle tumors.
Oncotarget
Hoekstra, Attje S AS; de Graaff, Marieke A MA; Briaire-de Bruijn, Inge H IH; Ras, Cor C; Seifar, Reza Maleki RM; van Minderhout, Ivonne I; Cornelisse, Cees J CJ; Hogendoorn, Pancras C W PC; Breuning, Martijn H MH; Suijker, Johnny J; Korpershoek, Esther E; Kunst, Henricus P M HP; Frizzell, Norma N; Devilee, Peter P; Bayley, Jean-Pierre JP; Bovée, Judith V M G JV
A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.
Human Genetics
Alston, Charlotte L CL; Ceccatelli Berti, Camilla C; Blakely, Emma L EL; Oláhová, Monika M; He, Langping L; McMahon, Colin J CJ; Olpin, Simon E SE; Hargreaves, Iain P IP; Nolli, Cecilia C; McFarland, Robert R; Goffrini, Paola P; O'Sullivan, Maureen J MJ; Taylor, Robert W RW
No evidence for increased mortality in SDHD variant carriers compared with the general population.
European Journal Of Human Genetics : Ejhg
van Hulsteijn, Leonie T LT; Heesterman, Berdine B; Jansen, Jeroen C JC; Bayley, Jean-Pierre JP; Hes, Frederik J FJ; Corssmit, Eleonora P M EP; Dekkers, Olaf M OM
Instability of succinate dehydrogenase in SDHD polymorphism connects reactive oxygen species production to nuclear and mitochondrial genomic mutations in yeast.
Paraganglioma and pheochromocytoma upon maternal transmission of SDHD mutations.
Bmc Medical Genetics
Bayley, Jean-Pierre JP; Oldenburg, Rogier A RA; Nuk, Jennifer J; Hoekstra, Attje S AS; van der Meer, Conny A CA; Korpershoek, Esther E; McGillivray, Barbara B; Corssmit, Eleonora P M EP; Dinjens, Winand N M WN; de Krijger, Ronald R RR; Devilee, Peter P; Jansen, Jeroen C JC; Hes, Frederik J FJ
Publication Date: 2014-10-10
Variant appearance in text: SDHD: 274G>T; Asp92Tyr
High prevalence of occult paragangliomas in asymptomatic carriers of SDHD and SDHB gene mutations.
European Journal Of Human Genetics : Ejhg
Heesterman, Berdine L BL; Bayley, Jean Pierre JP; Tops, Carli M CM; Hes, Frederik J FJ; van Brussel, Bernadette T J BT; Corssmit, Eleonora P M EP; Hamming, Jaap F JF; van der Mey, Andel G L AG; Jansen, Jeroen C JC
Publication Date: 2013-04
Variant appearance in text: SDHD: 274G>T; Asp92Tyr
Low penetrance of a SDHB mutation in a large Dutch paraganglioma family.
Bmc Medical Genetics
Hes, Frederik J FJ; Weiss, Marjan M MM; Woortman, Sanne A SA; de Miranda, Noel F NF; van Bunderen, Patrick A PA; Bonsing, Bert A BA; Stokkel, Marcel P M MP; Morreau, Hans H; Romijn, Johannes A JA; Jansen, Jeroen C JC; Vriends, Annette H J T AH; Bayley, Jean-Pierre L JP; Corssmit, Eleonora P M EP
The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family.
European Journal Of Human Genetics : Ejhg
Hensen, Erik F EF; Jansen, Jeroen C JC; Siemers, Maaike D MD; Oosterwijk, Jan C JC; Vriends, Annette Hjt AH; Corssmit, Eleonora Pm EP; Bayley, Jean-Pierre JP; van der Mey, Andel Gl AG; Cornelisse, Cees J CJ; Devilee, Peter P
An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis.
The Lancet. Oncology
van Nederveen, Francien H FH; Gaal, José J; Favier, Judith J; Korpershoek, Esther E; Oldenburg, Rogier A RA; de Bruyn, Elly M C A EM; Sleddens, Hein F B M HF; Derkx, Pieter P; Rivière, Julie J; Dannenberg, Hilde H; Petri, Bart-Jeroen BJ; Komminoth, Paul P; Pacak, Karel K; Hop, Wim C J WC; Pollard, Patrick J PJ; Mannelli, Massimo M; Bayley, Jean-Pierre JP; Perren, Aurel A; Niemann, Stephan S; Verhofstad, Albert A AA; de Bruïne, Adriaan P AP; Maher, Eamonn R ER; Tissier, Frédérique F; Méatchi, Tchao T; Badoual, Cécile C; Bertherat, Jérôme J; Amar, Laurence L; Alataki, Despoina D; Van Marck, Eric E; Ferrau, Francesco F; François, Jerney J; de Herder, Wouter W WW; Peeters, Mark-Paul F M Vrancken MP; van Linge, Anne A; Lenders, Jacques W M JW; Gimenez-Roqueplo, Anne-Paule AP; de Krijger, Ronald R RR; Dinjens, Winand N M WN
Similar gene expression profiles of sporadic, PGL2-, and SDHD-linked paragangliomas suggest a common pathway to tumorigenesis.
Bmc Medical Genomics
Hensen, Erik F EF; Goeman, Jelle J JJ; Oosting, Jan J; Van der Mey, Andel G L AG; Hogendoorn, Pancras C W PC; Cremers, Cor W R J CW; Devilee, Peter P; Cornelisse, Cees J CJ
The first Dutch SDHB founder deletion in paraganglioma-pheochromocytoma patients.
Bmc Medical Genetics
Bayley, Jean-Pierre JP; Grimbergen, Anneliese E M AE; van Bunderen, Patrick A PA; van der Wielen, Michiel M; Kunst, Henricus P HP; Lenders, Jacques W JW; Jansen, Jeroen C JC; Dullaart, Robin P F RP; Devilee, Peter P; Corssmit, Eleonora P EP; Vriends, Annette H AH; Losekoot, Monique M; Weiss, Marjan M MM
Mediastinal paragangliomas: association with mutations in the succinate dehydrogenase genes and aggressive behavior.
Endocrine-Related Cancer
Ghayee, Hans K HK; Havekes, Bas B; Corssmit, Eleonora P M EP; Eisenhofer, Graeme G; Hammes, Stephen R SR; Ahmad, Zahid Z; Tessnow, Alexander A; Lazúrová, Ivica I; Adams, Karen T KT; Fojo, Antonio T AT; Pacak, Karel K; Auchus, Richard J RJ
Impact of screening kindreds for SDHD p.Cys11X as a common mutation associated with paraganglioma syndrome type 1.
The Journal Of Clinical Endocrinology And Metabolism
Peczkowska, Mariola M; Erlic, Zoran Z; Hoffmann, Michael M MM; Furmanek, Mariusz M; Cwikla, Jaroslaw J; Kubaszek, Agata A; Prejbisz, Aleksander A; Szutkowski, Zbigniew Z; Kawecki, Andrzej A; Chojnowski, Krzysztof K; Lewczuk, Anna A; Litwin, Mieczyslaw M; Szyfter, Witold W; Walter, Martin A MA; Sullivan, Maren M; Eng, Charis C; Januszewicz, Andrzej A; Neumann, Hartmut P H HP
Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.
Bmc Medical Genetics
Bayley, Jean-Pierre JP; van Minderhout, Ivonne I; Weiss, Marjan M MM; Jansen, Jeroen C JC; Oomen, Peter H N PH; Menko, Fred H FH; Pasini, Barbara B; Ferrando, Barbara B; Wong, Nora N; Alpert, Lesley C LC; Williams, Rosie R; Blair, Edward E; Devilee, Peter P; Taschner, Peter E M PE
No evidence for involvement of SDHD in neuroblastoma pathogenesis.
Bmc Cancer
De Preter, Katleen K; Vandesompele, Jo J; Hoebeeck, Jasmien J; Vandenbroecke, Caroline C; Smet, Jöel J; Nuyts, Annick A; Laureys, Geneviève G; Combaret, Valérie V; Van Roy, Nadine N; Roels, Frank F; Van Coster, Rudy R; Praet, Marleen M; De Paepe, Anne A; Speleman, Frank F