Publications:

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Somatic SDHA mutations in paragangliomas in siblings: Case report of 2 cases.

Medicine

Huang, Yen-Chun YC; Chang, Hsiao-Huang HH; Chen, Ming-Huang MH; Huang, Kuo-Hung KH; Li, Anna Fen-Yau AF; Lin, Chien-Hsing CH; Shyr, Yi-Ming YM; Fang, Wen-Liang WL

Publication Date: 2020-10-09

Variant appearance in text: SDHA: Ala454Glu

PubMed Link: 33031286

Variant Present in the following documents:

• Main text
• medi-99-e22497.pdf

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Genetic Counseling and Germline Testing in the Era of Tumor Sequencing: A Cohort Study.

Jnci Cancer Spectrum

Klek, Stefan S; Heald, Brandie B; Milinovich, Alex A; Ni, Ying Y; Abraham, Jame J; Mahdi, Haider H; Estfan, Bassam B; Khorana, Alok A AA; Bolwell, Brian J BJ; Grivas, Petros P; Sohal, Davendra P S DPS; Funchain, Pauline P

Publication Date: 2020-06

Variant appearance in text: SDHA: A454E

PubMed Link: 32596633

Variant Present in the following documents:

• Main text
• pkaa018.pdf

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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: 1361C>A

PubMed Link: 30854332

Variant Present in the following documents:

• Main text
• fonc-09-00053.pdf

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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: 1361C>A

PubMed Link: 28748451

Variant Present in the following documents:

• Main text

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Biochemical, Molecular, and Clinical Characterization of Succinate Dehydrogenase Subunit A Variants of Unknown Significance.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Bannon, Amber E AE; Kent, Jason J; Forquer, Isaac I; Town, Ajia A; Klug, Lillian R LR; McCann, Kelly K; Beadling, Carol C; Harismendy, Oliver O; Sicklick, Jason K JK; Corless, Christopher C; Shinde, Ujwal U; Heinrich, Michael C MC

Publication Date: 2017-11-01

Variant appearance in text: SDHA: A454E

PubMed Link: 28724664

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: 1361C>A; Ala454Glu

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: 1361C>A

PubMed Link: 28384794

Variant Present in the following documents:

• Main text

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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: 1361C>A; A454E

PubMed Link: 24886695

Variant Present in the following documents:

• Main text

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Succinate dehydrogenase deficiency in pediatric and adult gastrointestinal stromal tumors.

Frontiers In Oncology

Belinsky, Martin G MG; Rink, Lori L; von Mehren, Margaret M

Publication Date: 2013

Variant appearance in text: SDHA: A454E

PubMed Link: 23730622

Variant Present in the following documents:

• Main text
• fonc-03-00117.pdf

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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: A454E

PubMed Link: 23282968

Variant Present in the following documents:

• Main text

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