Publications:

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Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: SDHC: 224G>A; G75D

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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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: SDHC: Gly75Asp

PubMed Link: 33320833

Variant Present in the following documents:

• jciinsight-6-143474.pdf

View BVdb publication page

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Immunohistochemistry and Mutation Analysis of SDHx Genes in Carotid Paragangliomas.

International Journal Of Molecular Sciences

Snezhkina, Anastasiya V AV; Kalinin, Dmitry V DV; Pavlov, Vladislav S VS; Lukyanova, Elena N EN; Golovyuk, Alexander L AL; Fedorova, Maria S MS; Pudova, Elena A EA; Savvateeva, Maria V MV; Stepanov, Oleg A OA; Poloznikov, Andrey A AA; Demidova, Tatiana B TB; Melnikova, Nataliya V NV; Dmitriev, Alexey A AA; Krasnov, George S GS; Kudryavtseva, Anna V AV

Publication Date: 2020-09-22

Variant appearance in text: SDHC: 224G>A; Gly75Asp; rs786205147

PubMed Link: 32971818

Variant Present in the following documents:

• Main text
• ijms-21-06950.pdf

View BVdb publication page

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Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Frontiers In Oncology

Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N

Publication Date: 2020

Variant appearance in text: SDHC: 224G>A; G75D

PubMed Link: 32373528

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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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: SDHC: G75D

PubMed Link: 30616628

Variant Present in the following documents:

• Main text
• 13148_2018_Article_594.pdf

View BVdb publication page

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Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls.

Genome Medicine

Kim, Jung J; Luo, Wen W; Wang, Mingyi M; Wegman-Ostrosky, Talia T; Frone, Megan N MN; Johnston, Jennifer J JJ; Nickerson, Michael L ML; Rotunno, Melissa M; Li, Shengchao A SA; Achatz, Maria I MI; Brodie, Seth A SA; Dean, Michael M; de Andrade, Kelvin C KC; Fortes, Fernanda P FP; Gianferante, Matthew M; Khincha, Payal P; McMaster, Mary L ML; McReynolds, Lisa J LJ; Pemov, Alexander A; Pinheiro, Maisa M; Santiago, Karina M KM; Alter, Blanche P BP; Caporaso, Neil E NE; Gadalla, Shahinaz M SM; Goldin, Lynn R LR; Greene, Mark H MH; Loud, Jennifer J; Yang, Xiaohong R XR; Freedman, Neal D ND; Gapstur, Susan M SM; Gaudet, Mia M MM; Calista, Donato D; Ghiorzo, Paola P; Fargnoli, Maria Concetta MC; Nagore, Eduardo E; Peris, Ketty K; Puig, Susana S; Landi, Maria Teresa MT; Hicks, Belynda B; Zhu, Bin B; Liu, Jia J; Sampson, Joshua N JN; Chanock, Stephen J SJ; Mirabello, Lisa J LJ; Morton, Lindsay M LM; Biesecker, Leslie G LG; Tucker, Margaret A MA; Savage, Sharon A SA; Goldstein, Alisa M AM; Stewart, Douglas R DR

Publication Date: 2018-12-24

Variant appearance in text: SDHC: 224G>A; Gly75Asp

PubMed Link: 30583724

Variant Present in the following documents:

• 13073_2018_607_MOESM3_ESM.xlsx, sheet 3
• 13073_2018_607_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Exome analysis of carotid body tumor.

Bmc Medical Genomics

Snezhkina, Anastasiya V AV; Lukyanova, Elena N EN; Kalinin, Dmitry V DV; Pokrovsky, Anatoly V AV; Dmitriev, Alexey A AA; Koroban, Nadezhda V NV; Pudova, Elena A EA; Fedorova, Maria S MS; Volchenko, Nadezhda N NN; Stepanov, Oleg A OA; Zhevelyuk, Ekaterina A EA; Kharitonov, Sergey L SL; Lipatova, Anastasiya V AV; Abramov, Ivan S IS; Golovyuk, Alexander V AV; Yegorov, Yegor E YE; Vishnyakova, Khava S KS; Moskalev, Alexey A AA; Krasnov, George S GS; Melnikova, Nataliya V NV; Shcherbo, Dmitry S DS; Kiseleva, Marina V MV; Kaprin, Andrey D AD; Alekseev, Boris Y BY; Zaretsky, Andrew R AR; Kudryavtseva, Anna V AV

Publication Date: 2018-02-13

Variant appearance in text: SDHC: 224G>A; Gly75Asp; rs786205147

PubMed Link: 29504908

Variant Present in the following documents:

• Main text
• 12920_2018_Article_327.pdf
• 12920_2018_327_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Precision Medicine in Children and Young Adults with Hematologic Malignancies and Blood Disorders: The Columbia University Experience.

Frontiers In Pediatrics

Marks, Lianna J LJ; Oberg, Jennifer A JA; Pendrick, Danielle D; Sireci, Anthony N AN; Glasser, Chana C; Coval, Carrie C; Zylber, Rebecca J RJ; Chung, Wendy K WK; Pang, Jiuhong J; Turk, Andrew T AT; Hsiao, Susan J SJ; Mansukhani, Mahesh M MM; Glade Bender, Julia L JL; Kung, Andrew L AL; Sulis, Maria Luisa ML

Publication Date: 2017

Variant appearance in text: SDHC: 224G>A; G75D

PubMed Link: 29312904

Variant Present in the following documents:

• Main text
• fped-05-00265.pdf
• Table_2.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: SDHC: 224G>A

PubMed Link: 28748451

Variant Present in the following documents:

• Main text

View BVdb publication page

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Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations.

Genome Medicine

Oberg, Jennifer A JA; Glade Bender, Julia L JL; Sulis, Maria Luisa ML; Pendrick, Danielle D; Sireci, Anthony N AN; Hsiao, Susan J SJ; Turk, Andrew T AT; Dela Cruz, Filemon S FS; Hibshoosh, Hanina H; Remotti, Helen H; Zylber, Rebecca J RJ; Pang, Jiuhong J; Diolaiti, Daniel D; Koval, Carrie C; Andrews, Stuart J SJ; Garvin, James H JH; Yamashiro, Darrell J DJ; Chung, Wendy K WK; Emerson, Stephen G SG; Nagy, Peter L PL; Mansukhani, Mahesh M MM; Kung, Andrew L AL

Publication Date: 2016-12-23

Variant appearance in text: SDHC: 224G>A; G75D

PubMed Link: 28007021

Variant Present in the following documents:

• Main text
• 13073_2016_389_MOESM5_ESM.xlsx, sheet 1

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: SDHC: G75D

PubMed Link: 26273102

Variant Present in the following documents:

• ERC150268.pdf

View BVdb publication page

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Carney triad can be (rarely) associated with germline succinate dehydrogenase defects.

European Journal Of Human Genetics : Ejhg

Boikos, Sosipatros A SA; Xekouki, Paraskevi P; Fumagalli, Elena E; Faucz, Fabio R FR; Raygada, Margarita M; Szarek, Eva E; Ball, Evan E; Kim, Su Young SY; Miettinen, Markku M; Helman, Lee J LJ; Carney, J Aidan JA; Pacak, Karel K; Stratakis, Constantine A CA

Publication Date: 2016-04

Variant appearance in text: SDHC: 224G>A

PubMed Link: 26173966

Variant Present in the following documents:

• Main text

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: SDHC: 224G>A; G75D

PubMed Link: 24886695

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: SDHC: Gly75Asp

PubMed Link: 23730622

Variant Present in the following documents:

• Main text
• fonc-03-00117.pdf

View BVdb publication page

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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: SDHC: G75D

PubMed Link: 23282968

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: SDHC: 224G>A; Gly75Asp

PubMed Link: 23109135

Variant Present in the following documents:

• Main text

View BVdb publication page

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