Publications:

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Performances of Functional and Anatomic Imaging Modalities in Succinate Dehydrogenase A-Related Metastatic Pheochromocytoma and Paraganglioma.

Cancers

Patel, Mayank M; Jha, Abhishek A; Ling, Alexander A; Chen, Clara C CC; Millo, Corina C; Kuo, Mickey J M MJM; Nazari, Matthew A MA; Talvacchio, Sara S; Charles, Kailah K; Miettinen, Markku M; Del Rivero, Jaydira J; Chen, Alice P AP; Nilubol, Naris N; Lin, Frank I FI; Civelek, Ali Cahid AC; Taïeb, David D; Carrasquillo, Jorge A JA; Pacak, Karel K

Publication Date: 2022-08-11

Variant appearance in text: SDHA: 1334C>T; S445L

PubMed Link: 36010880

Variant Present in the following documents:

• Main text
• cancers-14-03886.pdf

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Genetic and Clinical Profiles of Pheochromocytoma and Paraganglioma: A Single Center Study.

Frontiers In Endocrinology

Ma, Xiaosen X; Li, Ming M; Tong, Anli A; Wang, Fen F; Cui, Yunying Y; Zhang, Xuebin X; Zhang, Yushi Y; Chen, Shi S; Li, Yuxiu Y

Publication Date: 2020

Variant appearance in text: SDHA: 1334C>T; S445L

PubMed Link: 33362715

Variant Present in the following documents:

• Main text

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Clinical, Diagnostic, and Treatment Characteristics of SDHA-Related Metastatic Pheochromocytoma and Paraganglioma.

Frontiers In Oncology

Jha, Abhishek A; de Luna, Kristine K; Balili, Charlene Ann CA; Millo, Corina C; Paraiso, Cecilia Angela CA; Ling, Alexander A; Gonzales, Melissa K MK; Viana, Bruna B; Alrezk, Rami R; Adams, Karen T KT; Tena, Isabel I; Chen, Alice A; Neuzil, Jiri J; Raygada, Margarita M; Kebebew, Electron E; Taieb, David D; O'Dorisio, M Sue MS; O'Dorisio, Thomas T; Civelek, Ali Cahid AC; Stratakis, Constantine A CA; Mercado-Asis, Leilani L; Pacak, Karel K

Publication Date: 2019

Variant appearance in text: SDHA: 1334C>T; S445L

PubMed Link: 30854332

Variant Present in the following documents:

• Main text
• fonc-09-00053.pdf

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Germline SDHA mutations in children and adults with cancer.

Cold Spring Harbor Molecular Case Studies

Dubard Gault, Marianne M; Mandelker, Diana D; DeLair, Deborah D; Stewart, Carolyn R CR; Kemel, Yelena Y; Sheehan, Margaret R MR; Siegel, Beth B; Kennedy, Jennifer J; Marcell, Vanessa V; Arnold, Angela A; Al-Ahmadie, Hikmat H; Modak, Shakeel S; Robson, Mark M; Shukla, Neerav N; Roberts, Stephen S; Vijai, Joseph J; Topka, Sabine S; Kentsis, Alex A; Cadoo, Karen K; Carlo, Maria M; Latham Schwark, Alicia A; Reznik, Ed E; Dinatale, Renzo R; Hechtman, Jaclyn J; Borras Flores, Ester E; Jairam, Sowmaya S; Yang, Ciyu C; Li, Yirong Y; Bayraktar, Erol Can EC; Ceyhan-Birsoy, Ozge O; Zhang, Liying L; Kohlman, Wendy W; Schiffman, Joshua J; Stadler, Zsofia Z; Birsoy, Kivanc K; Kung, Andrew A; Offit, Kenneth K; Walsh, Michael F MF

Publication Date: 2018-08

Variant appearance in text: SDHA: S445L

PubMed Link: 30068732

Variant Present in the following documents:

• Main text
• MCS002584Dub.pdf

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Case Report: Propranolol increases the therapeutic response to temozolomide in a patient with metastatic paraganglioma.

F1000Research

Díaz-Castellanos, Miguel-Angel MA; Gómez de Las Heras, Karina Villar KV; Díaz-Redondo, Tamara T; González-Flores, Encarnación E; Albiñana, Virginia V; Botella, Luisa-María LM

Publication Date: 2017

Variant appearance in text: SDHA: Ser445Leu

PubMed Link: 29527294

Variant Present in the following documents:

• Main text
• f1000research-6-14305.pdf

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Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget

Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K

Publication Date: 2017-11-21

Variant appearance in text: SDHA: 1334C>T

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s003.xlsx, sheet 1

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The emerging role and targetability of the TCA cycle in cancer metabolism.

Protein & Cell

Anderson, Nicole M NM; Mucka, Patrick P; Kern, Joseph G JG; Feng, Hui H

Publication Date: 2018-02

Variant appearance in text: SDHA: 1334C>T

PubMed Link: 28748451

Variant Present in the following documents:

• Main text

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

Molecular Genetics & Genomic Medicine

Casey, Ruth T RT; Ascher, David B DB; Rattenberry, Eleanor E; Izatt, Louise L; Andrews, Katrina A KA; Simpson, Helen L HL; Challis, Benjamen B; Park, Soo-Mi SM; Bulusu, Venkata R VR; Lalloo, Fiona F; Pires, Douglas E V DEV; West, Hannah H; Clark, Graeme R GR; Smith, Philip S PS; Whitworth, James J; Papathomas, Thomas G TG; Taniere, Phillipe P; Savisaar, Rosina R; Hurst, Laurence D LD; Woodward, Emma R ER; Maher, Eamonn R ER

Publication Date: 2017-05

Variant appearance in text: SDHA: 1334C>T; Ser445Leu

PubMed Link: 28546994

Variant Present in the following documents:

• Main text
• MGG3-5-237.pdf

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Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention.

Jama Oncology

Bausch, Birke B; Schiavi, Francesca F; Ni, Ying Y; Welander, Jenny J; Patocs, Attila A; Ngeow, Joanne J; Wellner, Ulrich U; Malinoc, Angelica A; Taschin, Elisa E; Barbon, Giovanni G; Lanza, Virginia V; Söderkvist, Peter P; Stenman, Adam A; Larsson, Catharina C; Svahn, Fredrika F; Chen, Jin-Lian JL; Marquard, Jessica J; Fraenkel, Merav M; Walter, Martin A MA; Peczkowska, Mariola M; Prejbisz, Aleksander A; Jarzab, Barbara B; Hasse-Lazar, Kornelia K; Petersenn, Stephan S; Moeller, Lars C LC; Meyer, Almuth A; Reisch, Nicole N; Trupka, Arnold A; Brase, Christoph C; Galiano, Matthias M; Preuss, Simon F SF; Kwok, Pingling P; Lendvai, Nikoletta N; Berisha, Gani G; Makay, Özer Ö; Boedeker, Carsten C CC; Weryha, Georges G; Racz, Karoly K; Januszewicz, Andrzej A; Walz, Martin K MK; Gimm, Oliver O; Opocher, Giuseppe G; Eng, Charis C; Neumann, Hartmut P H HPH; ,

Publication Date: 2017-09-01

Variant appearance in text: SDHA: 1334C>T

PubMed Link: 28384794

Variant Present in the following documents:

• Main text

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: SDHA: 1334C>T; S445L

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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15 YEARS OF PARAGANGLIOMA: Clinical manifestations of paraganglioma syndromes types 1-5.

Endocrine-Related Cancer

Benn, Diana E DE; Robinson, Bruce G BG; Clifton-Bligh, Roderick J RJ

Publication Date: 2015-08

Variant appearance in text: SDHA: S445L

PubMed Link: 26273102

Variant Present in the following documents:

• ERC150268.pdf

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Succinate dehydrogenase deficient gastrointestinal stromal tumors (GISTs) - a review.

The International Journal Of Biochemistry & Cell Biology

Miettinen, Markku M; Lasota, Jerzy J

Publication Date: 2014-08

Variant appearance in text: SDHA: 1334C>T; S445L

PubMed Link: 24886695

Variant Present in the following documents:

• Main text

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Immunohistochemical loss of succinate dehydrogenase subunit A (SDHA) in gastrointestinal stromal tumors (GISTs) signals SDHA germline mutation.

The American Journal Of Surgical Pathology

Miettinen, Markku M; Killian, Jonathan Keith JK; Wang, Zeng-Feng ZF; Lasota, Jerzy J; Lau, Christopher C; Jones, Laura L; Walker, Robert R; Pineda, Marbin M; Zhu, Yuelin Jack YJ; Kim, Su Y SY; Helman, Lee L; Meltzer, Paul P

Publication Date: 2013-02

Variant appearance in text: SDHA: S445L

PubMed Link: 23282968

Variant Present in the following documents:

• Main text

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