Publications:

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SDHA Germline Mutations in SDH-Deficient GISTs: A Current Update.

Genes

Schipani, Angela A; Nannini, Margherita M; Astolfi, Annalisa A; Pantaleo, Maria A MA

Publication Date: 2023-03-04

Variant appearance in text: SDHA: 1766G>A; R589Q

PubMed Link: 36980917

Variant Present in the following documents:

• Main text
• genes-14-00646.pdf

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Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology

Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X

Publication Date: 2023

Variant appearance in text: SDHA: R589Q; rs763766162

PubMed Link: 36742322

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

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Predictive mutation signature of immunotherapy benefits in NSCLC based on machine learning algorithms.

Frontiers In Immunology

Liu, Zhichao Z; Lin, Guo G; Yan, Zeping Z; Li, Linduo L; Wu, Xingchen X; Shi, Jingrong J; He, Jianxing J; Zhao, Lei L; Liang, Hengrui H; Wang, Wei W

Publication Date: 2022

Variant appearance in text: SDHA: 1766G>A; R589Q

PubMed Link: 36238300

Variant Present in the following documents:

• Table_1.xlsx, sheet 4

View BVdb publication page

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EPHA5 mutation was associated with adverse outcome of atezolizumab treatment in late-stage non-small cell lung cancers.

Bmc Pulmonary Medicine

Li, Zhenxiang Z; Zhou, Qing Q; Wang, Qi Q; Wang, Haiyong H; Yue, Weiming W

Publication Date: 2022-09-19

Variant appearance in text: SDHA: 1766G>A; R589Q

PubMed Link: 36123678

Variant Present in the following documents:

• 12890_2022_2161_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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SDHA Germline Variants in Adult Patients With SDHA-Mutant Gastrointestinal Stromal Tumor.

Frontiers In Oncology

Pantaleo, Maria A MA; Urbini, Milena M; Schipani, Angela A; Nannini, Margherita M; Indio, Valentina V; De Leo, Antonio A; Vincenzi, Bruno B; Brunello, Antonella A; Grignani, Giovanni G; Casagrande, Mariaelena M; Fumagalli, Elena E; Conca, Elena E; Saponara, Maristella M; Gruppioni, Elisa E; Altimari, Annalisa A; De Biase, Dario D; Tallini, Giovanni G; Ravegnini, Gloria G; Turchetti, Daniela D; Seri, Marco M; Ardizzoni, Andrea A; Secchiero, Paola P; Astolfi, Annalisa A

Publication Date: 2021

Variant appearance in text: SDHA: 1766G>A; Arg589Gln

PubMed Link: 35059314

Variant Present in the following documents:

• Main text
• fonc-11-778461.pdf

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: SDHA: R589Q

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.

Ebiomedicine

Tan, Jing J; Wagner, Matias M; Stenton, Sarah L SL; Strom, Tim M TM; Wortmann, Saskia B SB; Prokisch, Holger H; Meitinger, Thomas T; Oexle, Konrad K; Klopstock, Thomas T

Publication Date: 2020-04

Variant appearance in text: SDHA: 1766G>A; Arg589Gln

PubMed Link: 32305867

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: SDHA: 1766G>A; R589H

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Bmc Cancer

Koyama, Takahiko T; Rhrissorrakrai, Kahn K; Parida, Laxmi L

Publication Date: 2019-02-01

Variant appearance in text: SDHA: 1766G>A; R589Q

PubMed Link: 30709382

Variant Present in the following documents:

• 12885_2019_5313_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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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: 1766G>A

PubMed Link: 28748451

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 1766G>A; Arg589Gln

PubMed Link: 28546994

Variant Present in the following documents:

• Main text
• MGG3-5-237.pdf

View BVdb publication page

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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: 1766G>A

PubMed Link: 28384794

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 1766G>A; R589Q

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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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: 1766G>A; R589Q

PubMed Link: 24886695

Variant Present in the following documents:

• Main text

View BVdb publication page

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Analysis of all subunits, SDHA, SDHB, SDHC, SDHD, of the succinate dehydrogenase complex in KIT/PDGFRA wild-type GIST.

European Journal Of Human Genetics : Ejhg

Pantaleo, Maria A MA; Astolfi, Annalisa A; Urbini, Milena M; Nannini, Margherita M; Paterini, Paola P; Indio, Valentina V; Saponara, Maristella M; Formica, Serena S; Ceccarelli, Claudio C; Casadio, Rita R; Rossi, Giulio G; Bertolini, Federica F; Santini, Donatella D; Pirini, Maria G MG; Fiorentino, Michelangelo M; Basso, Umberto U; Biasco, Guido G; ,

Publication Date: 2014-01

Variant appearance in text: SDHA: 1766G>A; R589Q

PubMed Link: 23612575

Variant Present in the following documents:

• Main text

View BVdb publication page

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