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: 1151C>G; S384X

PubMed Link: 36980917

Variant Present in the following documents:

• Main text
• genes-14-00646.pdf

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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: 1151C>G; Ser384*

PubMed Link: 35059314

Variant Present in the following documents:

• Main text
• fonc-11-778461.pdf

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Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.

Frontiers In Oncology

Zimmermann, Michael T MT; Mathison, Angela J AJ; Stodola, Tim T; Evans, Douglas B DB; Abrudan, Jenica L JL; Demos, Wendy W; Tschannen, Michael M; Aldakkak, Mohammed M; Geurts, Jennifer J; Lomberk, Gwen G; Tsai, Susan S; Urrutia, Raul R

Publication Date: 2021

Variant appearance in text: SDHA: 1151C>G; Ser384*

PubMed Link: 33747920

Variant Present in the following documents:

• DataSheet_2.xlsx, sheet 5

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: SDHA: 1151C>G; Ser384*; rs151170408

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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Interaction of germline variants in a family with a history of early-onset clear cell renal cell carcinoma.

Molecular Genetics & Genomic Medicine

Nicolas, Emmanuelle E; Demidova, Elena V EV; Iqbal, Waleed W; Serebriiskii, Ilya G IG; Vlasenkova, Ramilia R; Ghatalia, Pooja P; Zhou, Yan Y; Rainey, Kim K; Forman, Andrea F AF; Dunbrack, Roland L RL; Golemis, Erica A EA; Hall, Michael J MJ; Daly, Mary B MB; Arora, Sanjeevani S

Publication Date: 2019-03

Variant appearance in text: SDHA: S384X

PubMed Link: 30680959

Variant Present in the following documents:

• MGG3-7-na.pdf
• MGG3-7-na-s007.xlsx, sheet 3

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Preferential MGMT methylation could predispose a subset of KIT/PDGFRA-WT GISTs, including SDH-deficient ones, to respond to alkylating agents.

Clinical Epigenetics

Ricci, Riccardo R; Martini, Maurizio M; Ravegnini, Gloria G; Cenci, Tonia T; Milione, Massimo M; Lanza, Paola P; Pierconti, Francesco F; Santini, Donatella D; Angelini, Sabrina S; Biondi, Alberto A; Rosa, Fausto F; Alfieri, Sergio S; Clemente, Gennaro G; Persiani, Roberto R; Cassano, Alessandra A; Pantaleo, Maria A MA; Larocca, Luigi M LM

Publication Date: 2019-01-07

Variant appearance in text: SDHA: 1151C>G; S384X

PubMed Link: 30616628

Variant Present in the following documents:

• Main text
• 13148_2018_Article_594.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: 1151C>G

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: 1151C>G; Ser384*

PubMed Link: 28546994

Variant Present in the following documents:

• Main text
• MGG3-5-237.pdf

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Whole exome sequencing (WES) on formalin-fixed, paraffin-embedded (FFPE) tumor tissue in gastrointestinal stromal tumors (GIST).

Bmc Genomics

Astolfi, Annalisa A; Urbini, Milena M; Indio, Valentina V; Nannini, Margherita M; Genovese, Chiara Giusy CG; Santini, Donatella D; Saponara, Maristella M; Mandrioli, Anna A; Ercolani, Giorgio G; Brandi, Giovanni G; Biasco, Guido G; Pantaleo, Maria A MA

Publication Date: 2015-11-03

Variant appearance in text: SDHA: S384X

PubMed Link: 26531060

Variant Present in the following documents:

• Main text

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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: S384*

PubMed Link: 26273102

Variant Present in the following documents:

• ERC150268.pdf

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Succinate dehydrogenase-deficient gastrointestinal stromal tumors.

World Journal Of Gastroenterology

Wang, Ya-Mei YM; Gu, Meng-Li ML; Ji, Feng F

Publication Date: 2015-02-28

Variant appearance in text: SDHA: 1151C>G

PubMed Link: 25741136

Variant Present in the following documents:

• Main text

View BVdb publication page

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Integrated genomic study of quadruple-WT GIST (KIT/PDGFRA/SDH/RAS pathway wild-type GIST).

Bmc Cancer

Nannini, Margherita M; Astolfi, Annalisa A; Urbini, Milena M; Indio, Valentina V; Santini, Donatella D; Heinrich, Michael C MC; Corless, Christopher L CL; Ceccarelli, Claudio C; Saponara, Maristella M; Mandrioli, Anna A; Lolli, Cristian C; Ercolani, Giorgio G; Brandi, Giovanni G; Biasco, Guido G; Pantaleo, Maria A MA

Publication Date: 2014-09-20

Variant appearance in text: SDHA: S384X

PubMed Link: 25239601

Variant Present in the following documents:

• Main text
• 12885_2014_Article_4877.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: 1151C>G; S384*

PubMed Link: 24886695

Variant Present in the following documents:

• Main text

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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: 1151C>G; S384X

PubMed Link: 23612575

Variant Present in the following documents:

• Main text

View BVdb publication page

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