User menu

Toward an improved definition of the genetic and tumor spectrum associated with SDH germ-line mutations

Bibliographic reference Evenepoel, Lucie ; Papathomas, Thomas G. ; Krol, Niels ; Korpershoek, Esther ; de Krijger, Ronald R. ; et. al. Toward an improved definition of the genetic and tumor spectrum associated with SDH germ-line mutations. In: Genetics in Medicine, Vol. 17, no. 8, p. 610-620 (2015)
Permanent URL http://hdl.handle.net/2078.1/156677
  1. Baysal B. E., Mutations in SDHD, a Mitochondrial Complex II Gene, in Hereditary Paraganglioma, 10.1126/science.287.5454.848
  2. Hao H.-X., Khalimonchuk O., Schraders M., Dephoure N., Bayley J.-P., Kunst H., Devilee P., Cremers C. W. R. J., Schiffman J. D., Bentz B. G., Gygi S. P., Winge D. R., Kremer H., Rutter J., SDH5, a Gene Required for Flavination of Succinate Dehydrogenase, Is Mutated in Paraganglioma, 10.1126/science.1175689
  3. Ghezzi Daniele, Goffrini Paola, Uziel Graziella, Horvath Rita, Klopstock Thomas, Lochmüller Hanns, D'Adamo Pio, Gasparini Paolo, Strom Tim M, Prokisch Holger, Invernizzi Federica, Ferrero Ileana, Zeviani Massimo, SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy, 10.1038/ng.378
  4. Astuti Dewi, Latif Farida, Dallol Ashraf, Dahia Patricia L.M., Douglas Fiona, George Emad, Sköldberg Filip, Husebye Eystein S., Eng Charis, Maher Eamonn R., Gene Mutations in the Succinate Dehydrogenase Subunit SDHB Cause Susceptibility to Familial Pheochromocytoma and to Familial Paraganglioma, 10.1086/321282
  5. Müller Ulrich, Niemann Stephan, 10.1038/81551
  6. Burnichon Nelly, Brière Jean-Jacques, Libé Rossella, Vescovo Laure, Rivière Julie, Tissier Frédérique, Jouanno Elodie, Jeunemaitre Xavier, Bénit Paule, Tzagoloff Alexander, Rustin Pierre, Bertherat Jérôme, Favier Judith, Gimenez-Roqueplo Anne-Paule, SDHA is a tumor suppressor gene causing paraganglioma, 10.1093/hmg/ddq206
  7. Vanharanta Sakari, Buchta Mary, McWhinney Sarah R., Virta Sanna K., Peçzkowska Mariola, Morrison Carl D., Lehtonen Rainer, Januszewicz Andrzej, Järvinen Heikki, Juhola Matti, Mecklin Jukka-Pekka, Pukkala Eero, Herva Riitta, Kiuru Maija, Nupponen Nina N., Aaltonen Lauri A., Neumann Hartmut P.H., Eng Charis, Early-Onset Renal Cell Carcinoma as a Novel Extraparaganglial Component of SDHB-Associated Heritable Paraganglioma, 10.1086/381054
  8. Xekouki P., Stratakis C. A., Succinate dehydrogenase (SDHx) mutations in pituitary tumors: could this be a new role for mitochondrial complex II and/or Krebs cycle defects?, 10.1530/erc-12-0118
  9. Pasini Barbara, McWhinney Sarah R, Bei Thalia, Matyakhina Ludmila, Stergiopoulos Sotirios, Muchow Michael, Boikos Sosipatros A, Ferrando Barbara, Pacak Karel, Assie Guillaume, Baudin Eric, Chompret Agnes, Ellison Jay W, Briere Jean-Jacques, Rustin Pierre, Gimenez-Roqueplo Anne-Paule, Eng Charis, Carney J Aidan, Stratakis Constantine A, Clinical and molecular genetics of patients with the Carney–Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD, 10.1038/sj.ejhg.5201904
  10. Tomlinson Ian P.M., Alam N. Afrina, Rowan Andrew J., Barclay Ella, Jaeger Emma E. M., Kelsell David, Leigh Irene, Gorman Patricia, Lamlum Hanan, Rahman Shamima, Roylance Rebecca R., Olpin Simon, Bevan Stephen, Barker Karen, Hearle Nicholas, Houlston Richard S., Kiuru Maija, Lehtonen Rainer, Karhu Auli, Vilkki Susa, Laiho Päivi, Eklund Carita, Vierimaa Outi, Aittomäki Kristiina, Hietala Marja, Sistonen Pertti, Paetau Anders, Salovaara Reijo, Herva Riitta, Launonen Virpi, Aaltonen Lauri A., Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer, 10.1038/ng849
  11. Castro-Vega Luis Jaime, Buffet Alexandre, De Cubas Aguirre A., Cascón Alberto, Menara Mélanie, Khalifa Emmanuel, Amar Laurence, Azriel Sharona, Bourdeau Isabelle, Chabre Olivier, Currás-Freixes Maria, Franco-Vidal Valérie, Guillaud-Bataille Marine, Simian Christophe, Morin Aurélie, Letón Rocío, Gómez-Graña Álvaro, Pollard Patrick J., Rustin Pierre, Robledo Mercedes, Favier Judith, Gimenez-Roqueplo Anne-Paule, Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas, 10.1093/hmg/ddt639
  12. Yan Hai, Parsons D. Williams, Jin Genglin, McLendon Roger, Rasheed B. Ahmed, Yuan Weishi, Kos Ivan, Batinic-Haberle Ines, Jones Siân, Riggins Gregory J., Friedman Henry, Friedman Allan, Reardon David, Herndon James, Kinzler Kenneth W., Velculescu Victor E., Vogelstein Bert, Bigner Darell D., IDH1andIDH2Mutations in Gliomas, 10.1056/nejmoa0808710
  13. Schaap Frank G., French Pim J., Bovée Judith V. M. G., Mutations in the Isocitrate Dehydrogenase Genes IDH1 and IDH2 in Tumors : , 10.1097/pap.0b013e31827b654d
  14. Zou Yang, Zeng Yun, Zhang Deng-Feng, Zou Shan-Hua, Cheng Yun-Feng, Yao Yong-Gang, IDH1 and IDH2 mutations are frequent in Chinese patients with acute myeloid leukemia but rare in other types of hematological disorders, 10.1016/j.bbrc.2010.10.038
  15. Raimundo Nuno, Baysal Bora E., Shadel Gerald S., Revisiting the TCA cycle: signaling to tumor formation, 10.1016/j.molmed.2011.06.001
  16. Alston Charlotte L, Davison James E, Meloni Francesca, van der Westhuizen Francois H, He Langping, Hornig-Do Hue-Tran, Peet Andrew C, Gissen Paul, Goffrini Paola, Ferrero Ileana, Wassmer Evangeline, McFarland Robert, Taylor Robert W, Recessive germlineSDHAandSDHBmutations causing leukodystrophy and isolated mitochondrial complex II deficiency, 10.1136/jmedgenet-2012-101146
  17. Levitas Aviva, Muhammad Emad, Harel Gali, Saada Ann, Caspi Vered Chalifa, Manor Esther, Beck John C, Sheffield Val, Parvari Ruti, Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase, 10.1038/ejhg.2010.83
  18. Bourgeron Thomas, Rustin Pierre, Chretien Dominique, Birch-Machin Mark, Bourgeois Marie, Viegas-Péquignot Evani, Munnich Arnold, Rötig Agnès, Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency, 10.1038/ng1095-144
  19. Fokkema Ivo F. A. C., Taschner Peter E. M., Schaafsma Gerard C. P., Celli J., Laros Jeroen F. J., den Dunnen Johan T., LOVD v.2.0: the next generation in gene variant databases, 10.1002/humu.21438
  20. Wang K., Li M., Hakonarson H., ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data, 10.1093/nar/gkq603
  21. Wildeman Martin, van Ophuizen Ernest, den Dunnen Johan T., Taschner Peter E.M., Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker, 10.1002/humu.20654
  22. Dunnen Johan T. den, Antonarakis Stylianos E., Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion, 10.1002/(sici)1098-1004(200001)15:1<7::aid-humu4>3.0.co;2-n
  23. McVean Gil A., Altshuler (Co-Chair) David M., Durbin (Co-Chair) Richard M., Abecasis Gonçalo R., Bentley David R., Chakravarti Aravinda, Clark Andrew G., Donnelly Peter, Eichler Evan E., Flicek Paul, Gabriel Stacey B., Gibbs Richard A., Green Eric D., Hurles Matthew E., Knoppers Bartha M., Korbel Jan O., Lander Eric S., Lee Charles, Lehrach Hans, Mardis Elaine R., Marth Gabor T., McVean Gil A., Nickerson Deborah A., Schmidt Jeanette P., Sherry Stephen T., Wang Jun, Wilson Richard K., Gibbs (Principal Investigator) Richard A., Dinh Huyen, Kovar Christie, Lee Sandra, Lewis Lora, Muzny Donna, Reid Jeff, Wang Min, Wang (Principal Investigator) Jun, Fang Xiaodong, Guo Xiaosen, Jian Min, Jiang Hui, Jin Xin, Li Guoqing, Li Jingxiang, Li Yingrui, Li Zhuo, Liu Xiao, Lu Yao, Ma Xuedi, Su Zhe, Tai Shuaishuai, Tang Meifang, Wang Bo, Wang Guangbiao, Wu Honglong, Wu Renhua, Yin Ye, Zhang Wenwei, Zhao Jiao, Zhao Meiru, Zheng Xiaole, Zhou Yan, Lander (Principal Investigator) Eric S., Altshuler David M., Gabriel (Co-Chair) Stacey B., Gupta Namrata, Flicek (Principal Investigator) Paul, Clarke Laura, Leinonen Rasko, Smith Richard E., Zheng-Bradley Xiangqun, Bentley (Principal Investigator) David R., Grocock Russell, Humphray Sean, James Terena, Kingsbury Zoya, Lehrach (Principal Investigator) Hans, Sudbrak (Project Leader) Ralf, Albrecht Marcus W., Amstislavskiy Vyacheslav S., Borodina Tatiana A., Lienhard Matthias, Mertes Florian, Sultan Marc, Timmermann Bernd, Yaspo Marie-Laure, Sherry (Principal Investigator) Stephen T., McVean (Principal Investigator) Gil A., Mardis (Co-Principal Investigator) (Co-Chair) Elaine R., Wilson (Co-Principal Investigator) Richard K., Fulton Lucinda, Fulton Robert, Weinstock George M., Durbin (Principal Investigator) Richard M., Balasubramaniam Senduran, Burton John, Danecek Petr, Keane Thomas M., Kolb-Kokocinski Anja, McCarthy Shane, Stalker James, Quail Michael, Schmidt (Principal Investigator) Jeanette P., Davies Christopher J., Gollub Jeremy, Webster Teresa, Wong Brant, Zhan Yiping, Auton (Principal Investigator) Adam, Gibbs (Principal Investigator) Richard A., Yu (Project Leader) Fuli, Bainbridge Matthew, Challis Danny, Evani Uday S., Lu James, Muzny Donna, Nagaswamy Uma, Reid Jeff, Sabo Aniko, Wang Yi, Yu Jin, Wang (Principal Investigator) Jun, Coin Lachlan J. M., Fang Lin, Guo Xiaosen, Jin Xin, Li Guoqing, Li Qibin, Li Yingrui, Li Zhenyu, Lin Haoxiang, Liu Binghang, Luo Ruibang, Qin Nan, Shao Haojing, Wang Bingqiang, Xie Yinlong, Ye Chen, Yu Chang, Zhang Fan, Zheng Hancheng, Zhu Hongmei, Marth (Principal Investigator) Gabor T., Garrison Erik P., Kural Deniz, Lee Wan-Ping, Fung Leong Wen, Ward Alistair N., Wu Jiantao, Zhang Mengyao, Lee (Principal Investigator) Charles, Griffin Lauren, Hsieh Chih-Heng, Mills Ryan E., Shi Xinghua, von Grotthuss Marcin, Zhang Chengsheng, Daly (Principal Investigator) Mark J., DePristo (Project Leader) Mark A., Altshuler David M., Banks Eric, Bhatia Gaurav, Carneiro Mauricio O., del Angel Guillermo, Gabriel Stacey B., Genovese Giulio, Gupta Namrata, Handsaker Robert E., Hartl Chris, Lander Eric S., McCarroll Steven A., Nemesh James C., Poplin Ryan E., Schaffner Stephen F., Shakir Khalid, Yoon (Principal Investigator) Seungtai C., Lihm Jayon, Makarov Vladimir, Jin (Principal Investigator) Hanjun, Kim Wook, Cheol Kim Ki, Korbel (Principal Investigator) Jan O., Rausch Tobias, Flicek (Principal Investigator) Paul, Beal Kathryn, Clarke Laura, Cunningham Fiona, Herrero Javier, McLaren William M., Ritchie Graham R. S., Smith Richard E., Zheng-Bradley Xiangqun, Clark (Principal Investigator) Andrew G., Gottipati Srikanth, Keinan Alon, Rodriguez-Flores Juan L., Sabeti (Principal Investigator) Pardis C., Grossman Sharon R., Tabrizi Shervin, Tariyal Ridhi, Cooper (Principal Investigator) David N., Ball Edward V., Stenson Peter D., Bentley (Principal Investigator) David R., Barnes Bret, Bauer Markus, Keira Cheetham R., Cox Tony, Eberle Michael, Humphray Sean, Kahn Scott, Murray Lisa, Peden John, Shaw Richard, Ye (Principal Investigator) Kai, Batzer (Principal Investigator) Mark A., Konkel Miriam K., Walker Jerilyn A., MacArthur (Principal Investigator) Daniel G., Lek Monkol, Sudbrak (Project Leader), Amstislavskiy Vyacheslav S., Herwig Ralf, Shriver (Principal Investigator) Mark D., Bustamante (Principal Investigator) Carlos D., Byrnes Jake K., De La Vega Francisco M., Gravel Simon, Kenny Eimear E., Kidd Jeffrey M., Lacroute Phil, Maples Brian K., Moreno-Estrada Andres, Zakharia Fouad, Halperin (Principal Investigator) Eran, Baran Yael, Craig (Principal Investigator) David W., Christoforides Alexis, Homer Nils, Izatt Tyler, Kurdoglu Ahmet A., Sinari Shripad A., Squire Kevin, Sherry (Principal Investigator) Stephen T., Xiao Chunlin, Sebat (Principal Investigator) Jonathan, Bafna Vineet, Ye Kenny, Burchard (Principal Investigator) Esteban G., Hernandez (Principal Investigator) Ryan D., Gignoux Christopher R., Haussler (Principal Investigator) David, Katzman Sol J., James Kent W., Howie Bryan, Ruiz-Linares (Principal Investigator) Andres, Dermitzakis (Principal Investigator) Emmanouil T., Lappalainen Tuuli, Devine (Principal Investigator) Scott E., Liu Xinyue, Maroo Ankit, Tallon Luke J., Rosenfeld (Principal Investigator) Jeffrey A., Michelson Leslie P., Abecasis (Principal Investigator) (Co-Chair) Gonçalo R., Min Kang (Project Leader) Hyun, Anderson Paul, Angius Andrea, Bigham Abigail, Blackwell Tom, Busonero Fabio, Cucca Francesco, Fuchsberger Christian, Jones Chris, Jun Goo, Li Yun, Lyons Robert, Maschio Andrea, Porcu Eleonora, Reinier Fred, Sanna Serena, Schlessinger David, Sidore Carlo, Tan Adrian, Kate Trost Mary, Awadalla (Principal Investigator) Philip, Hodgkinson Alan, Lunter (Principal Investigator) Gerton, McVean (Principal Investigator) (Co-Chair) Gil A., Marchini (Principal Investigator) Jonathan L., Myers (Principal Investigator) Simon, Churchhouse Claire, Delaneau Olivier, Gupta-Hinch Anjali, Iqbal Zamin, Mathieson Iain, Rimmer Andy, Xifara Dionysia K., Oleksyk (Principal Investigator) Taras K., Fu (Principal Investigator) Yunxin, Liu Xiaoming, Xiong Momiao, Jorde (Principal Investigator) Lynn, Witherspoon David, Xing Jinchuan, Eichler (Principal Investigator) Evan E., Browning (Principal Investigator) Brian L., Alkan Can, Hajirasouliha Iman, Hormozdiari Fereydoun, Ko Arthur, Sudmant Peter H., Mardis (Co-Principal Investigator) Elaine R., Chen Ken, Chinwalla Asif, Ding Li, Dooling David, Koboldt Daniel C., McLellan Michael D., Wallis John W., Wendl Michael C., Zhang Qunyuan, Durbin (Principal Investigator) Richard M., Hurles (Principal Investigator) Matthew E., Albers Cornelis A., Ayub Qasim, Balasubramaniam Senduran, Chen Yuan, Coffey Alison J., Colonna Vincenza, Danecek Petr, Huang Ni, Jostins Luke, Keane Thomas M., Li Heng, McCarthy Shane, Scally Aylwyn, Stalker James, Walter Klaudia, Xue Yali, Zhang Yujun, Gerstein (Principal Investigator) Mark B., Abyzov Alexej, Balasubramanian Suganthi, Chen Jieming, Clarke Declan, Fu Yao, Habegger Lukas, Harmanci Arif O., Jin Mike, Khurana Ekta, Jasmine Mu Xinmeng, Sisu Cristina, Li Yingrui, Luo Ruibang, Zhu Hongmei, Lee (Principal Investigator) (Co-Chair) Charles, Griffin Lauren, Hsieh Chih-Heng, Mills Ryan E., Shi Xinghua, von Grotthuss Marcin, Zhang Chengsheng, Marth (Principal Investigator) Gabor T., Garrison Erik P., Kural Deniz, Lee Wan-Ping, Ward Alistair N., Wu Jiantao, Zhang Mengyao, McCarroll (Project Leader) Steven A., Altshuler David M., Banks Eric, del Angel Guillermo, Genovese Giulio, Handsaker Robert E., Hartl Chris, Nemesh James C., Shakir Khalid, Yoon (Principal Investigator) Seungtai C., Lihm Jayon, Makarov Vladimir, Degenhardt Jeremiah, Flicek (Principal Investigator) Paul, Clarke Laura, Smith Richard E., Zheng-Bradley Xiangqun, Korbel (Principal Investigator) (Co-Chair) Jan O., Rausch Tobias, Stütz Adrian M., Bentley (Principal Investigator) David R., Barnes Bret, Keira Cheetham R., Eberle Michael, Humphray Sean, Kahn Scott, Murray Lisa, Shaw Richard, Ye (Principal Investigator) Kai, Batzer (Principal Investigator) Mark A., Konkel Miriam K., Walker Jerilyn A., Lacroute Phil, Craig (Principal Investigator) David W., Homer Nils, Church Deanna, Xiao Chunlin, Sebat (Principal Investigator) Jonathan, Bafna Vineet, Michaelson Jacob J., Ye Kenny, Devine (Principal Investigator) Scott E., Liu Xinyue, Maroo Ankit, Tallon Luke J., Lunter (Principal Investigator) Gerton, McVean (Principal Investigator) Gil A., Iqbal Zamin, Witherspoon David, Xing Jinchuan, Eichler (Principal Investigator) (Co-Chair) Evan E., Alkan Can, Hajirasouliha Iman, Hormozdiari Fereydoun, Ko Arthur, Sudmant Peter H., Chen Ken, Chinwalla Asif, Ding Li, McLellan Michael D., Wallis John W., Hurles (Principal Investigator) (Co-Chair) Matthew E., Blackburne Ben, Li Heng, Lindsay Sarah J., Ning Zemin, Scally Aylwyn, Walter Klaudia, Zhang Yujun, Gerstein (Principal Investigator) Mark B., Abyzov Alexej, Chen Jieming, Clarke Declan, Khurana Ekta, Jasmine Mu Xinmeng, Sisu Cristina, Gibbs (Principal Investigator) (Co-Chair) Richard A., Yu (Project Leader) Fuli, Bainbridge Matthew, Challis Danny, Evani Uday S., Kovar Christie, Lewis Lora, Lu James, Muzny Donna, Nagaswamy Uma, Reid Jeff, Sabo Aniko, Yu Jin, Guo Xiaosen, Li Yingrui, Wu Renhua, Marth (Principal Investigator) (Co-Chair) Gabor T., Garrison Erik P., Fung Leong Wen, Ward Alistair N., del Angel Guillermo, DePristo Mark A., Gabriel Stacey B., Gupta Namrata, Hartl Chris, Poplin Ryan E., Clark (Principal Investigator) Andrew G., Rodriguez-Flores Juan L., Flicek (Principal Investigator) Paul, Clarke Laura, Smith Richard E., Zheng-Bradley Xiangqun, MacArthur (Principal Investigator) Daniel G., Bustamante (Principal Investigator) Carlos D., Gravel Simon, Craig (Principal Investigator) David W., Christoforides Alexis, Homer Nils, Izatt Tyler, Sherry (Principal Investigator) Stephen T., Xiao Chunlin, Dermitzakis (Principal Investigator) Emmanouil T., Abecasis (Principal Investigator) Gonçalo R., Min Kang Hyun, McVean (Principal Investigator) Gil A., Mardis (Principal Investigator) Elaine R., Dooling David, Fulton Lucinda, Fulton Robert, Koboldt Daniel C., Durbin (Principal Investigator) Richard M., Balasubramaniam Senduran, Keane Thomas M., McCarthy Shane, Stalker James, Gerstein (Principal Investigator) Mark B., Balasubramanian Suganthi, Habegger Lukas, Garrison Erik P., Gibbs (Principal Investigator) Richard A., Bainbridge Matthew, Muzny Donna, Yu Fuli, Yu Jin, del Angel Guillermo, Handsaker Robert E., Makarov Vladimir, Rodriguez-Flores Juan L., Jin (Principal Investigator) Hanjun, Kim Wook, Cheol Kim Ki, Flicek (Principal Investigator) Paul, Beal Kathryn, Clarke Laura, Cunningham Fiona, Herrero Javier, McLaren William M., Ritchie Graham R. S., Zheng-Bradley Xiangqun, Tabrizi Shervin, MacArthur (Principal Investigator) Daniel G., Lek Monkol, Bustamante (Principal Investigator) Carlos D., De La Vega Francisco M., Craig (Principal Investigator) David W., Kurdoglu Ahmet A., Lappalainen Tuuli, Rosenfeld (Principal Investigator) Jeffrey A., Michelson Leslie P., Awadalla (Principal Investigator) Philip, Hodgkinson Alan, McVean (Principal Investigator) Gil A., Chen Ken, Chen Yuan, Colonna Vincenza, Frankish Adam, Harrow Jennifer, Xue Yali, Gerstein (Principal Investigator) (Co-Chair) Mark B., Abyzov Alexej, Balasubramanian Suganthi, Chen Jieming, Clarke Declan, Fu Yao, Harmanci Arif O., Jin Mike, Khurana Ekta, Jasmine Mu Xinmeng, Sisu Cristina, Gibbs (Principal Investigator) Richard A., Fowler Gerald, Hale Walker, Kalra Divya, Kovar Christie, Muzny Donna, Reid Jeff, Wang (Principal Investigator) Jun, Guo Xiaosen, Li Guoqing, Li Yingrui, Zheng Xiaole, Altshuler David M., Flicek (Principal Investigator) (Co-Chair) Paul, Clarke (Project Leader) Laura, Barker Jonathan, Kelman Gavin, Kulesha Eugene, Leinonen Rasko, McLaren William M., Radhakrishnan Rajesh, Roa Asier, Smirnov Dmitriy, Smith Richard E., Streeter Ian, Toneva Iliana, Vaughan Brendan, Zheng-Bradley Xiangqun, Bentley (Principal Investigator) David R., Cox Tony, Humphray Sean, Kahn Scott, Sudbrak (Project Leader) Ralf, Albrecht Marcus W., Lienhard Matthias, Craig (Principal Investigator) David W., Izatt Tyler, Kurdoglu Ahmet A., Sherry (Principal Investigator) (Co-Chair) Stephen T., Ananiev Victor, Belaia Zinaida, Beloslyudtsev Dimitriy, Bouk Nathan, Chen Chao, Church Deanna, Cohen Robert, Cook Charles, Garner John, Hefferon Timothy, Kimelman Mikhail, Liu Chunlei, Lopez John, Meric Peter, O’Sullivan Chris, Ostapchuk Yuri, Phan Lon, Ponomarov Sergiy, Schneider Valerie, Shekhtman Eugene, Sirotkin Karl, Slotta Douglas, Xiao Chunlin, Zhang Hua, Haussler (Principal Investigator) David, Abecasis (Principal Investigator) Gonçalo R., McVean (Principal Investigator) Gil A., Alkan Can, Ko Arthur, Dooling David, Durbin (Principal Investigator) Richard M., Balasubramaniam Senduran, Keane Thomas M., McCarthy Shane, Stalker James, Chakravarti (Co-Chair) Aravinda, Knoppers (Co-Chair) Bartha M., Abecasis Gonçalo R., Barnes Kathleen C., Beiswanger Christine, Burchard Esteban G., Bustamante Carlos D., Cai Hongyu, Cao Hongzhi, Durbin Richard M., Gharani Neda, Gibbs Richard A., Gignoux Christopher R., Gravel Simon, Henn Brenna, Jones Danielle, Jorde Lynn, Kaye Jane S., Keinan Alon, Kent Alastair, Kerasidou Angeliki, Li Yingrui, Mathias Rasika, McVean Gil A., Moreno-Estrada Andres, Ossorio Pilar N., Parker Michael, Reich David, Rotimi Charles N., Royal Charmaine D., Sandoval Karla, Su Yeyang, Sudbrak Ralf, Tian Zhongming, Timmermann Bernd, Tishkoff Sarah, Toji Lorraine H., Tyler Smith Chris, Via Marc, Wang Yuhong, Yang Huanming, Yang Ling, Zhu Jiayong, Bodmer Walter, Bedoya Gabriel, Ruiz-Linares Andres, Zhi Ming Cai, Yang Gao, Jia You Chu, Peltonen Leena, Garcia-Montero Andres, Orfao Alberto, Dutil Julie, Martinez-Cruzado Juan C., Oleksyk Taras K., Brooks Lisa D., Felsenfeld Adam L., McEwen Jean E., Clemm Nicholas C., Duncanson Audrey, Dunn Michael, Green Eric D., Guyer Mark S., Peterson Jane L., Abecasis Goncalo R., Auton Adam, Brooks Lisa D., DePristo Mark A., Durbin Richard M., Handsaker Robert E., Min Kang Hyun, Marth Gabor T., McVean Gil A., An integrated map of genetic variation from 1,092 human genomes, 10.1038/nature11632
  24. Landrum Melissa J., Lee Jennifer M., Riley George R., Jang Wonhee, Rubinstein Wendy S., Church Deanna M., Maglott Donna R., ClinVar: public archive of relationships among sequence variation and human phenotype, 10.1093/nar/gkt1113
  25. Forbes S. A., Bindal N., Bamford S., Cole C., Kok C. Y., Beare D., Jia M., Shepherd R., Leung K., Menzies A., Teague J. W., Campbell P. J., Stratton M. R., Futreal P. A., COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer, 10.1093/nar/gkq929
  26. Ng P. C., Henikoff S., Predicting Deleterious Amino Acid Substitutions, 10.1101/gr.176601
  27. Adzhubei Ivan A, Schmidt Steffen, Peshkin Leonid, Ramensky Vasily E, Gerasimova Anna, Bork Peer, Kondrashov Alexey S, Sunyaev Shamil R, A method and server for predicting damaging missense mutations, 10.1038/nmeth0410-248
  28. Reva Boris, Antipin Yevgeniy, Sander Chris, Determinants of protein function revealed by combinatorial entropy optimization, 10.1186/gb-2007-8-11-r232
  29. González-Pérez Abel, López-Bigas Nuria, Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel, 10.1016/j.ajhg.2011.03.004
  30. Kircher Martin, Witten Daniela M, Jain Preti, O'Roak Brian J, Cooper Gregory M, Shendure Jay, A general framework for estimating the relative pathogenicity of human genetic variants, 10.1038/ng.2892
  31. van Nederveen Francien H, Gaal José, Favier Judith, Korpershoek Esther, Oldenburg Rogier A, de Bruyn Elly MCA, Sleddens Hein FBM, Derkx Pieter, Rivière Julie, Dannenberg Hilde, Petri Bart-Jeroen, Komminoth Paul, Pacak Karel, Hop Wim CJ, Pollard Patrick J, Mannelli Massimo, Bayley Jean-Pierre, Perren Aurel, Niemann Stephan, Verhofstad Albert A, de Bruïne Adriaan P, Maher Eamonn R, Tissier Frédérique, Méatchi Tchao, Badoual Cécile, Bertherat Jérôme, Amar Laurence, Alataki Despoina, Van Marck Eric, Ferrau Francesco, François Jerney, de Herder Wouter W, Peeters Mark-Paul FM Vrancken, van Linge Anne, Lenders Jacques WM, Gimenez-Roqueplo Anne-Paule, de Krijger Ronald R, Dinjens Winand NM, An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis, 10.1016/s1470-2045(09)70164-0
  32. Korpershoek Esther, Favier Judith, Gaal José, Burnichon Nelly, van Gessel Bram, Oudijk Lindsey, Badoual Cécile, Gadessaud Noémie, Venisse Annabelle, Bayley Jean-Pierre, van Dooren Marieke F., de Herder Wouter W., Tissier Frédérique, Plouin Pierre-François, van Nederveen Francien H., Dinjens Winand N. M., Gimenez-Roqueplo Anne-Paule, de Krijger Ronald R., SDHA Immunohistochemistry Detects GermlineSDHAGene Mutations in Apparently Sporadic Paragangliomas and Pheochromocytomas, 10.1210/jc.2011-1043
  33. Loriot Céline, Burnichon Nelly, Gadessaud Noémie, Vescovo Laure, Amar Laurence, Libé Rossella, Bertherat Jérôme, Plouin Pierre-François, Jeunemaitre Xavier, Gimenez-Roqueplo Anne-Paule, Favier Judith, Epithelial to Mesenchymal Transition Is Activated in Metastatic Pheochromocytomas and Paragangliomas Caused bySDHBGene Mutations, 10.1210/jc.2011-3437
  34. Letouzé Eric, Martinelli Cosimo, Loriot Céline, Burnichon Nelly, Abermil Nasséra, Ottolenghi Chris, Janin Maxime, Menara Mélanie, Nguyen An Thach, Benit Paule, Buffet Alexandre, Marcaillou Charles, Bertherat Jérôme, Amar Laurence, Rustin Pierre, De Reyniès Aurélien, Gimenez-Roqueplo Anne-Paule, Favier Judith, SDH Mutations Establish a Hypermethylator Phenotype in Paraganglioma, 10.1016/j.ccr.2013.04.018
  35. Pasini B., Stratakis C. A., SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma syndromes, 10.1111/j.1365-2796.2009.02111.x
  36. Gimenez-Roqueplo AP, Cancer Res, 63, 5615 (2003)
  37. King Kathryn S., Prodanov Tamara, Kantorovich Vitaly, Fojo Tito, Hewitt Jacqueline K., Zacharin Margaret, Wesley Robert, Lodish Maya, Raygada Margarita, Gimenez-Roqueplo Anne-Paule, McCormack Shana, Eisenhofer Graeme, Milosevic Dragana, Kebebew Electron, Stratakis Constantine A., Pacak Karel, Metastatic Pheochromocytoma/Paraganglioma Related to Primary Tumor Development in Childhood or Adolescence: Significant Link toSDHBMutations, 10.1200/jco.2011.34.6353
  38. Miettinen Markku, Killian Jonathan Keith, Wang Zeng-Feng, Lasota Jerzy, Lau Christopher, Jones Laura, Walker Robert, Pineda Marbin, Zhu Yuelin Jack, Kim Su Y., Helman Lee, Meltzer Paul, Immunohistochemical Loss of Succinate Dehydrogenase Subunit A (SDHA) in Gastrointestinal Stromal Tumors (GISTs) Signals SDHA Germline Mutation : , 10.1097/pas.0b013e3182671178
  39. Doyle Leona A, Hornick Jason L, Gastrointestinal stromal tumours: from KIT to succinate dehydrogenase, 10.1111/his.12302
  40. Srigley John R., Delahunt Brett, Eble John N., Egevad Lars, Epstein Jonathan I., Grignon David, Hes Ondrej, Moch Holger, Montironi Rodolfo, Tickoo Satish K., Zhou Ming, Argani Pedram, The International Society of Urological Pathology (ISUP) Vancouver Classification of Renal Neoplasia : , 10.1097/pas.0b013e318299f2d1
  41. Papathomas T. G., Gaal J., Corssmit E. P. M., Oudijk L., Korpershoek E., Heimdal K., Bayley J.-P., Morreau H., van Dooren M., Papaspyrou K., Schreiner T., Hansen T., Andresen P. A., Restuccia D. F., van Kessel I., van Leenders G. J. L. H., Kros J. M., Looijenga L. H. J., Hofland L. J., Mann W., van Nederveen F. H., Mete O., Asa S. L., de Krijger R. R., Dinjens W. N. M., Non-pheochromocytoma (PCC)/paraganglioma (PGL) tumors in patients with succinate dehydrogenase-related PCC-PGL syndromes: a clinicopathological and molecular analysis, 10.1530/eje-13-0623
  42. Gill Anthony J., Toon Christopher W., Clarkson Adele, Sioson Loretta, Chou Angela, Winship Ingrid, Robinson Bruce G., Benn Diana E., Clifton-Bligh Roderick J., Dwight Trisha, Succinate Dehydrogenase Deficiency Is Rare in Pituitary Adenomas : , 10.1097/pas.0000000000000149
  43. Dwight Trisha, Benn Diana E., Clarkson Adele, Vilain Ricardo, Lipton Lara, Robinson Bruce G., Clifton-Bligh Roderick J., Gill Anthony J., Loss of SDHA Expression Identifies SDHA Mutations in Succinate Dehydrogenase–deficient Gastrointestinal Stromal Tumors : , 10.1097/pas.0b013e3182671155
  44. Italiano Antoine, Chen Chun-Liang, Sung Yun-Shao, Singer Samuel, DeMatteo Ronald P, LaQuaglia Michael P, Besmer Peter, Socci Nicholas, Antonescu Cristina R, SDHA loss of function mutations in a subset of young adult wild-type gastrointestinal stromal tumors, 10.1186/1471-2407-12-408
  45. Belinsky Martin G., Succinate dehydrogenase deficiency in pediatric and adult gastrointestinal stromal tumors, 10.3389/fonc.2013.00117
  46. Dwight Trisha, Mann Kirsty, Benn Diana E., Robinson Bruce G., McKelvie Penny, Gill Anthony J., Winship Ingrid, Clifton-Bligh Roderick J., FamilialSDHAMutation Associated With Pituitary Adenoma and Pheochromocytoma/Paraganglioma, 10.1210/jc.2013-1400
  47. Malinoc A., Sullivan M., Wiech T., Schmid K. W., Jilg C., Straeter J., Deger S., Hoffmann M. M., Bosse A., Rasp G., Eng C., Neumann H. P. H., Biallelic inactivation of the SDHC gene in renal carcinoma associated with paraganglioma syndrome type 3, 10.1530/erc-11-0324
  48. Tenorio Jiménez Carmen, Izatt Louise, Chang Fuju, Moonim Mufaddal T., Carroll Paul V., McGowan Barbara M., Carney Stratakis Syndrome in a Patient with SDHD Mutation, 10.1007/s12022-012-9213-z
  49. Sjursen Wenche, Halvorsen Henrik, Hofsli Eva, Bachke Siri, Berge Åsa, Engebretsen Lars F., Falkmer Sture E., Falkmer Ursula G., Varhaug Jan E., Mutation screening in a Norwegian cohort with pheochromocytoma, 10.1007/s10689-013-9608-0
  50. Pantaleo M. A., Astolfi A., Indio V., Moore R., Thiessen N., Heinrich M. C., Gnocchi C., Santini D., Catena F., Formica S., Martelli P. L., Casadio R., Pession A., Biasco G., SDHA Loss-of-Function Mutations in KIT-PDGFRA Wild-Type Gastrointestinal Stromal Tumors Identified by Massively Parallel Sequencing, 10.1093/jnci/djr130
  51. Wagner Andrew J, Remillard Stephen P, Zhang Yi-Xiang, Doyle Leona A, George Suzanne, Hornick Jason L, Loss of expression of SDHA predicts SDHA mutations in gastrointestinal stromal tumors, 10.1038/modpathol.2012.153
  52. Belinsky Martin G., Rink Lori, Flieder Douglas B., Jahromi Mona S., Schiffman Joshua D., Godwin Andrew K., Mehren Margaret von, Overexpression of insulin-like growth factor 1 receptor and frequent mutational inactivation ofSDHAin wild-type SDHB-negative gastrointestinal stromal tumors, 10.1002/gcc.22023
  53. Celestino Ricardo, Lima Jorge, Faustino Alexandra, Máximo Valdemar, Gouveia António, Vinagre João, Soares Paula, Lopes José Manuel, A novel germline SDHB mutation in a gastrointestinal stromal tumor patient without bona fide features of the Carney–Stratakis dyad, 10.1007/s10689-011-9499-x
  54. Oudijk Lindsey, Gaal José, Korpershoek Esther, van Nederveen Francien H, Kelly Lorna, Schiavon Gaia, Verweij Jaap, Mathijssen Ron H J, den Bakker Michael A, Oldenburg Rogier A, van Loon Rosa L E, O'Sullivan Maureen J, de Krijger Ronald R, Dinjens Winand N M, SDHA mutations in adult and pediatric wild-type gastrointestinal stromal tumors, 10.1038/modpathol.2012.186
  55. Grogan Raymon H., Pacak Karel, Pasche Lezlee, Huynh Thanh T., Greco Ralph S., Bilateral Adrenal Medullary Hyperplasia Associated With an SDHB Mutation, 10.1200/jco.2010.32.2156
  56. Weber Alexander, Hoffmann Michael M., Neumann Hartmut P. H., Erlic Zoran, Somatic Mutation Analysis of the SDHB, SDHC, SDHD, and RET Genes in the Clinical Assessment of Sporadic and Hereditary Pheochromocytoma, 10.1007/s12672-012-0113-y
  57. Habano W, Oncol Rep, 10, 1375 (2003)
  58. Carney J.Aidan, Carney Triad, Endocrine Tumor Syndromes and Their Genetics (2013) ISBN:9783318023305 p.92-110, 10.1159/000345672
  59. Haller F., Moskalev E. A., Faucz F. R., Barthelmess S., Wiemann S., Bieg M., Assie G., Bertherat J., Schaefer I.-M., Otto C., Rattenberry E., Maher E. R., Strobel P., Werner M., Carney J. A., Hartmann A., Stratakis C. A., Agaimy A., Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad, 10.1530/erc-14-0254
  60. Piruat J. I., Pintado C. O., Ortega-Saenz P., Roche M., Lopez-Barneo J., The Mitochondrial SDHD Gene Is Required for Early Embryogenesis, and Its Partial Deficiency Results in Persistent Carotid Body Glomus Cell Activation with Full Responsiveness to Hypoxia, 10.1128/mcb.24.24.10933-10940.2004
  61. Bayley Jean-Pierre, van Minderhout Ivonne, Hogendoorn Pancras C. W., Cornelisse Cees J., van der Wal Annemieke, Prins Frans A., Teppema Luc, Dahan Albert, Devilee Peter, Taschner Peter E. M., Sdhd and Sdhd/H19 Knockout Mice Do Not Develop Paraganglioma or Pheochromocytoma, 10.1371/journal.pone.0007987
  62. Millán-Uclés África, Díaz-Castro Blanca, García-Flores Paula, Báez Alicia, Pérez-Simón José Antonio, López-Barneo José, Piruat José I., A Conditional Mouse Mutant in the Tumor Suppressor SdhD Gene Unveils a Link between p21WAF1/Cip1 Induction and Mitochondrial Dysfunction, 10.1371/journal.pone.0085528
  63. Hoekstra Attje S., Bayley Jean-Pierre, The role of complex II in disease, 10.1016/j.bbabio.2012.11.005
  64. Goldstein Alisa M, Germline BAP1 mutations and tumor susceptibility, 10.1038/ng.956
  65. Alimonti Andrea, Carracedo Arkaitz, Clohessy John G, Trotman Lloyd C, Nardella Caterina, Egia Ainara, Salmena Leonardo, Sampieri Katia, Haveman William J, Brogi Edi, Richardson Andrea L, Zhang Jiangwen, Pandolfi Pier Paolo, Subtle variations in Pten dose determine cancer susceptibility, 10.1038/ng.556
  66. Gaujoux Sébastien, Tissier Frédérique, Ragazzon Bruno, Rebours Vinciane, Saloustros Emmanouil, Perlemoine Karine, Vincent-Dejean Caroline, Meurette Guillaume, Cassagnau Elisabeth, Dousset Bertrand, Bertagna Xavier, Horvath Anelia, Terris Benoit, Carney J. Aidan, Stratakis Constantine A., Bertherat Jérôme, Pancreatic Ductal and Acinar Cell Neoplasms in Carney Complex: A Possible New Association, 10.1210/jc.2011-1433
  67. Oishi Yohmi, Nagai So, Yoshida Miyuki, Fujisawa Shin-ichi, Sazawa Ataru, Shinohara Nobuo, Nonomura Katsuya, Matsuno Kazuhiko, Shimizu Chikara, Mutation analysis of the SDHB and SDHD genes in pheochromocytomas and paragangliomas: identification of a novel nonsense mutation (Q168X) in the SDHB gene, 10.1507/endocrj.k10e-023
  68. Cadiñanos Juan, Llorente José L., de la Rosa Jorge, Villameytide José A., Illán Rafael, Durán Noelia S., Murias Eduardo, Cabanillas Rubén, Novel germline SDHD deletion associated with an unusual sympathetic head and neck paraganglioma, 10.1002/hed.21384
  69. Hes Frederik J, Weiss Marjan M, Woortman Sanne A, de Miranda Noel F, van Bunderen Patrick A, Bonsing Bert A, Stokkel Marcel PM, Morreau Hans, Romijn Johannes A, Jansen Jeroen C, Vriends Annette HJT, Bayley Jean-Pierre L, Corssmit Eleonora PM, Low penetrance of a SDHB mutation in a large Dutch paraganglioma family, 10.1186/1471-2350-11-92
  70. Solis DC, Burnichon N, Timmers HJLM, Raygada MJ, Kozupa A, Merino MJ, Makey D, Adams KT, Venisse A, Gimenez-Roqueplo A-P, Pacak K, Penetrance and clinical consequences of a grossSDHBdeletion in a large family, 10.1111/j.1399-0004.2009.01157.x
  71. Dahia Patricia L. M., Pheochromocytoma and paraganglioma pathogenesis: learning from genetic heterogeneity, 10.1038/nrc3648
  72. van Nederveen Francien H., Korpershoek Esther, Lenders Jacques W.M., de Krijger Ronald R., Dinjens Winand N.M., SomaticSDHBMutation in an Extraadrenal Pheochromocytoma, 10.1056/nejmc070010
  73. Gimm O, Cancer Res, 60, 6822 (2000)
  74. Killian J. Keith, Kim Su Young, Miettinen Markku, Smith Carly, Merino Maria, Tsokos Maria, Quezado Martha, Smith William I., Jahromi Mona S., Xekouki Paraskevi, Szarek Eva, Walker Robert L., Lasota Jerzy, Raffeld Mark, Klotzle Brandy, Wang Zengfeng, Jones Laura, Zhu Yuelin, Wang Yonghong, Waterfall Joshua J., O'Sullivan Maureen J., Bibikova Marina, Pacak Karel, Stratakis Constantine, Janeway Katherine A., Schiffman Joshua D., Fan Jian-Bing, Helman Lee, Meltzer Paul S., Succinate Dehydrogenase Mutation Underlies Global Epigenomic Divergence in Gastrointestinal Stromal Tumor, 10.1158/2159-8290.cd-13-0092
  75. Neumann Hartmut P. H., Distinct Clinical Features of Paraganglioma Syndromes Associated With SDHB and SDHD Gene Mutations, 10.1001/jama.292.8.943
  76. Benn Diana E., Gimenez-Roqueplo Anne-Paule, Reilly Jennifer R., Bertherat Jérôme, Burgess John, Byth Karen, Croxson Michael, Dahia Patricia L. M., Elston Marianne, Gimm Oliver, Henley David, Herman Philippe, Murday Victoria, Niccoli-Sire Patricia, Pasieka Janice L., Rohmer Vincent, Tucker Kathy, Jeunemaitre Xavier, Marsh Deborah J., Plouin Pierre-François, Robinson Bruce G., Clinical Presentation and Penetrance of Pheochromocytoma/Paraganglioma Syndromes, 10.1210/jc.2005-1862