Publications:

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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: 1690G>A; Glu564Lys

PubMed Link: 35059314

Variant Present in the following documents:

• Main text
• fonc-11-778461.pdf

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: 1690G>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: 1690G>A; Glu564Lys

PubMed Link: 28546994

Variant Present in the following documents:

• Main text
• MGG3-5-237.pdf

View BVdb publication page

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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: E564K

PubMed Link: 26273102

Variant Present in the following documents:

• ERC150268.pdf

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: 1690G>A; E564K

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: 1690G>A; E564K

PubMed Link: 23612575

Variant Present in the following documents:

• Main text

View BVdb publication page

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