SDHB exon 1 deletion: A recurrent germline mutation in Colombian patients with pheochromocytomas and paragangliomas.
Frontiers In Genetics
Manotas, María Carolina MC; Rivera, Ana Lucía AL; Gómez, Ana Milena AM; Abisambra, Patricia P; Guevara, Gonzalo G; Medina, Vilma V; Tapiero, Sandra S; Huertas, Antonio A; Riaño-Moreno, Julián J; Mejía, Juan Carlos JC; Gonzalez-Clavijo, Angélica María AM; Tapiero-García, Mireya M; Cuéllar-Cuéllar, Andrés Arturo AA; Fierro-Maya, Luis Felipe LF; Sanabria-Salas, María Carolina MC
Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.
Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Correlation of treatment outcome in sanger/RT‑qPCR KIT/PDGFRA wild‑type metastatic gastrointestinal stromal tumors with next‑generation sequencing results: A single‑center report.
Oncology Reports
Unk, Mojca M; Bombač, Alenka A; Jezeršek Novaković, Barbara B; Stegel, Vida V; Šetrajčič Dragoš, Vita V; Blatnik, Olga O; Klančar, Gašper G; Novaković, Srdjan S
Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.
Nature Communications
Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX
A stop-gain mutation in GXYLT1 promotes metastasis of colorectal cancer via the MAPK pathway.
Cell Death & Disease
Peng, Lin L; Zhao, Min M; Liu, Tianqi T; Chen, Jiangbo J; Gao, Pin P; Chen, Lei L; Xing, Pu P; Wang, Zaozao Z; Di, Jiabo J; Xu, Qiang Q; Qu, Hong H; Jiang, Beihai B; Su, Xiangqian X
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
Cost-minimization analysis of sequential genetic testing versus targeted next-generation sequencing gene panels in patients with pheochromocytoma and paraganglioma.
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Genome Medicine
Stranneheim, Henrik H; Lagerstedt-Robinson, Kristina K; Magnusson, Måns M; Kvarnung, Malin M; Nilsson, Daniel D; Lesko, Nicole N; Engvall, Martin M; Anderlid, Britt-Marie BM; Arnell, Henrik H; Johansson, Carolina Backman CB; Barbaro, Michela M; Björck, Erik E; Bruhn, Helene H; Eisfeldt, Jesper J; Freyer, Christoph C; Grigelioniene, Giedre G; Gustavsson, Peter P; Hammarsjö, Anna A; Hellström-Pigg, Maritta M; Iwarsson, Erik E; Jemt, Anders A; Laaksonen, Mikael M; Enoksson, Sara Lind SL; Malmgren, Helena H; Naess, Karin K; Nordenskjöld, Magnus M; Oscarson, Mikael M; Pettersson, Maria M; Rasi, Chiara C; Rosenbaum, Adam A; Sahlin, Ellika E; Sardh, Eliane E; Stödberg, Tommy T; Tesi, Bianca B; Tham, Emma E; Thonberg, Håkan H; Töhönen, Virpi V; von Döbeln, Ulrika U; Vassiliou, Daphne D; Vonlanthen, Sofie S; Wikström, Ann-Charlotte AC; Wincent, Josephine J; Winqvist, Ola O; Wredenberg, Anna A; Ygberg, Sofia S; Zetterström, Rolf H RH; Marits, Per P; Soller, Maria Johansson MJ; Nordgren, Ann A; Wirta, Valtteri V; Lindstrand, Anna A; Wedell, Anna A
Tumor detection rates in screening of individuals with SDHx-related hereditary paraganglioma-pheochromocytoma syndrome.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Greenberg, Samantha E SE; Jacobs, Michelle F MF; Wachtel, Heather H; Anson, Amanda A; Buchmann, Luke L; Cohen, Debbie L DL; Bonanni, Maria M; Bennett, Bonita B; Naumer, Anne A; Schaefer, Amanda M AM; Kohlmann, Wendy W; Nathanson, Katherine L KL; Else, Tobias T; Fishbein, Lauren L
Identification of a novel SDHB c.563 T > C mutation responsible for Paraganglioma syndrome and genetic analysis of the SDHB gene in China: a case report.
Bmc Medical Genetics
Chen, Heye H; Yao, Wei W; He, Qing Q; Yu, Xuefang X; Bian, Bo B
Clinical characteristics and outcomes of SDHB-related pheochromocytoma and paraganglioma in children and adolescents.
Journal Of Cancer Research And Clinical Oncology
Jochmanova, Ivana I; Abcede, April Melody T AMT; Guerrero, Ruby Jane S RJS; Malong, Chandy Lou P CLP; Wesley, Robert R; Huynh, Thanh T; Gonzales, Melissa K MK; Wolf, Katherine I KI; Jha, Abhishek A; Knue, Marianne M; Prodanov, Tamara T; Nilubol, Naris N; Mercado-Asis, Leilani B LB; Stratakis, Constantine A CA; Pacak, Karel K
Mutational profile and genotype/phenotype correlation of non-familial pheochromocytoma and paraganglioma.
Oncotarget
Albattal, Shatha S; Alswailem, Meshael M; Moria, Yosra Y; Al-Hindi, Hindi H; Dasouki, Majed M; Abouelhoda, Mohamed M; Alkhail, Hala Aba HA; Alsuhaibani, Entissar E; Alzahrani, Ali S AS
A Clinical Efficacy of PRRT in Patients with Advanced, Nonresectable, Paraganglioma-Pheochromocytoma, Related to SDHx Gene Mutation.
Journal Of Clinical Medicine
Kolasinska-Ćwikła, Agnieszka A; Pęczkowska, Mariola M; Ćwikła, Jarosław B JB; Michałowska, Ilona I; Pałucki, Jakub M JM; Bodei, Lisa L; Lewczuk-Myślicka, Anna A; Januszewicz, Andrzej A
Characterization of Malignant Head and Neck Paragangliomas at a Single Institution Across Multiple Decades.
Jama Otolaryngology-- Head & Neck Surgery
McCrary, Hilary C HC; Babajanian, Eric E; Calquin, Matias M; Carpenter, Patrick P; Casazza, Geoffrey G; Naumer, Anne A; Greenberg, Samantha S; Kohlmann, Wendy W; Cannon, Richard R; Monroe, Marcus M MM; Hunt, Jason P JP; Buchmann, Luke L
Translating in vivo metabolomic analysis of succinate dehydrogenase deficient tumours into clinical utility.
Jco Precision Oncology
Casey, Ruth T RT; McLean, Mary A MA; Madhu, Basetti B; Challis, Benjamin G BG; Ten Hoopen, Rogier R; Roberts, Thomas T; Clark, Graeme R GR; Pittfield, Deborah D; Simpson, Helen L HL; Bulusu, Venkata R VR; Allinson, Kieran K; Happerfield, Lisa L; Park, Soo-Mi SM; Marker, Alison A; Giger, Olivier O; Maher, Eamonn R ER; Gallagher, Ferdia A FA
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07
Variant appearance in text: SDHB: R90X; rs74315366
Data-Independent Acquisition Mass Spectrometry To Quantify Protein Levels in FFPE Tumor Biopsies for Molecular Diagnostics.
Journal Of Proteome Research
Kim, Yeoun Jin YJ; Sweet, Steve M M SMM; Egertson, Jarrett D JD; Sedgewick, Andrew J AJ; Woo, Sunghee S; Liao, Wei-Li WL; Merrihew, Gennifer E GE; Searle, Brian C BC; Vaske, Charlie C; Heaton, Robert R; MacCoss, Michael J MJ; Hembrough, Todd T
Bayesian approach to determining penetrance of pathogenic SDH variants.
Journal Of Medical Genetics
Benn, Diana E DE; Zhu, Ying Y; Andrews, Katrina A KA; Wilding, Mathilda M; Duncan, Emma L EL; Dwight, Trisha T; Tothill, Richard W RW; Burgess, John J; Crook, Ashley A; Gill, Anthony J AJ; Hicks, Rodney J RJ; Kim, Edward E; Luxford, Catherine C; Marfan, Helen H; Richardson, Anne Louise AL; Robinson, Bruce B; Schlosberg, Arran A; Susman, Rachel R; Tacon, Lyndal L; Trainer, Alison A; Tucker, Katherine K; Maher, Eamonn R ER; Field, Michael M; Clifton-Bligh, Roderick J RJ
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: SDHB: 268C>T; Arg90*; rs74315366
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
Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review.
The Journal Of Clinical Endocrinology And Metabolism
Casey, Ruth T RT; Warren, Anne Y AY; Martin, Jose Ezequiel JE; Challis, Benjamin G BG; Rattenberry, Eleanor E; Whitworth, James J; Andrews, Katrina A KA; Roberts, Thomas T; Clark, Graeme R GR; West, Hannah H; Smith, Philip S PS; Docquier, France M FM; Rodger, Fay F; Murray, Vicki V; Simpson, Helen L HL; Wallis, Yvonne Y; Giger, Olivier O; Tran, Maxine M; Tomkins, Susan S; Stewart, Grant D GD; Park, Soo-Mi SM; Woodward, Emma R ER; Maher, Eamonn R ER
SDHB-related pheochromocytoma and paraganglioma penetrance and genotype-phenotype correlations.
Journal Of Cancer Research And Clinical Oncology
Jochmanova, Ivana I; Wolf, Katherine I KI; King, Kathryn S KS; Nambuba, Joan J; Wesley, Robert R; Martucci, Victoria V; Raygada, Margarita M; Adams, Karen T KT; Prodanov, Tamara T; Fojo, Antonio Tito AT; Lazurova, Ivica I; Pacak, Karel K
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
Calculating the optimal surveillance for head and neck paraganglioma in SDHB-mutation carriers.
Familial Cancer
Eijkelenkamp, Karin K; Osinga, Thamara E TE; de Jong, Mirjam M MM; Sluiter, Wim J WJ; Dullaart, Robin P F RP; Links, Thera P TP; Kerstens, Michiel N MN; van der Horst-Schrivers, Anouk N A AN