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: 818C>T; T273I

PubMed Link: 36980917

Variant Present in the following documents:

• Main text
• genes-14-00646.pdf

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Identification of Wee1 as a target in combination with avapritinib for gastrointestinal stromal tumor treatment.

Jci Insight

Ye, Shuai S; Sharipova, Dinara D; Kozinova, Marya M; Klug, Lilli L; D'Souza, Jimson J; Belinsky, Martin G MG; Johnson, Katherine J KJ; Einarson, Margret B MB; Devarajan, Karthik K; Zhou, Yan Y; Litwin, Samuel S; Heinrich, Michael C MC; DeMatteo, Ronald R; von Mehren, Margaret M; Duncan, James S JS; Rink, Lori L

Publication Date: 2021-01-25

Variant appearance in text: SDHA: Thr273Ile

PubMed Link: 33320833

Variant Present in the following documents:

• jciinsight-6-143474.pdf

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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: Thr273Ile

PubMed Link: 33031286

Variant Present in the following documents:

• Main text
• medi-99-e22497.pdf

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Tumor detection rates in screening of individuals with SDHx-related hereditary paraganglioma-pheochromocytoma syndrome.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Greenberg, Samantha E SE; Jacobs, Michelle F MF; Wachtel, Heather H; Anson, Amanda A; Buchmann, Luke L; Cohen, Debbie L DL; Bonanni, Maria M; Bennett, Bonita B; Naumer, Anne A; Schaefer, Amanda M AM; Kohlmann, Wendy W; Nathanson, Katherine L KL; Else, Tobias T; Fishbein, Lauren L

Publication Date: 2020-12

Variant appearance in text: SDHA: Thr273Ile

PubMed Link: 32741965

Variant Present in the following documents:

• NIHMS1619684-supplement-Supplemental_Tables_S1-S3.xlsx, sheet 3

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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: T273I

PubMed Link: 30680959

Variant Present in the following documents:

• MGG3-7-na-s007.xlsx, sheet 3
• MGG3-7-na.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: 818C>T

PubMed Link: 28748451

Variant Present in the following documents:

• Main text
• 13238_2017_Article_451.pdf

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Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Plos One

LaDuca, Holly H; Farwell, Kelly D KD; Vuong, Huy H; Lu, Hsiao-Mei HM; Mu, Wenbo W; Shahmirzadi, Layla L; Tang, Sha S; Chen, Jefferey J; Bhide, Shruti S; Chao, Elizabeth C EC

Publication Date: 2017

Variant appearance in text: SDHA: 818C>T; T273I

PubMed Link: 28152038

Variant Present in the following documents:

• pone.0170843.s003.xlsx, sheet 1
• pone.0170843.s004.xlsx, sheet 1

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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: T273I

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: 818C>T; T273I

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: 818C>T; T273I

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: T273I

PubMed Link: 23282968

Variant Present in the following documents:

• Main text

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Overexpression of insulin-like growth factor 1 receptor and frequent mutational inactivation of SDHA in wild-type SDHB-negative gastrointestinal stromal tumors.

Genes, Chromosomes & Cancer

Belinsky, Martin G MG; Rink, Lori L; Flieder, Douglas B DB; Jahromi, Mona S MS; Schiffman, Joshua D JD; Godwin, Andrew K AK; von Mehren, Margaret M

Publication Date: 2013-02

Variant appearance in text: SDHA: 818C>T

PubMed Link: 23109135

Variant Present in the following documents:

• Main text

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