Publications:

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Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology

Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W

Publication Date: 2022

Variant appearance in text: SDHD: W43X

PubMed Link: 36072793

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

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Targeting mitochondrial metabolism for precision medicine in cancer.

Cell Death And Differentiation

Sainero-Alcolado, Lourdes L; Liaño-Pons, Judit J; Ruiz-Pérez, María Victoria MV; Arsenian-Henriksson, Marie M

Publication Date: 2022-07

Variant appearance in text: SDHD: W43X

PubMed Link: 35831624

Variant Present in the following documents:

• 41418_2022_Article_1022.pdf

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Treatment Response Monitoring Using a Tumor-Informed Circulating Tumor DNA Test in an Advanced Triple-Negative Breast Cancer Patient: A Case Report.

Case Reports In Oncology

Azzi, Georges G; Krinshpun, Shifra S; Tin, Antony A; Maninder, Minu M; Malashevich, Allyson Koyen AK; Malhotra, Meenakshi M; Vega, Ruben Ruiz RR; Billings, Paul R PR; Rodriguez, Angel A; Aleshin, Alexey A

Publication Date: 2022

Variant appearance in text: SDHD: W43*

PubMed Link: 35702676

Variant Present in the following documents:

• cro-0015-0473.pdf

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A Novel Germline SDHA Gene Mutation and Co-Occurring Somatic KIT Activating Mutation in a Patient With Pediatric Central Nervous System Germ Cell Tumor: Case Report.

Frontiers In Oncology

Yue, Xizan X; Liu, Bo B; Han, Tiantian T; Luo, Ningning N; Lu, Guanghua G; Guo, Didi D; Bu, Fanfeng F; Wang, Guangyu G

Publication Date: 2022

Variant appearance in text: SDHD: W43*

PubMed Link: 35651799

Variant Present in the following documents:

• Main text
• fonc-12-835220.pdf

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Carney Triad, Carney-Stratakis Syndrome, 3PAS and Other Tumors Due to SDH Deficiency.

Frontiers In Endocrinology

Pitsava, Georgia G; Settas, Nikolaos N; Faucz, Fabio R FR; Stratakis, Constantine A CA

Publication Date: 2021

Variant appearance in text: SDHD: W43x

PubMed Link: 34012423

Variant Present in the following documents:

• fendo-12-680609.pdf

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: SDHD: 129G>A; W43*

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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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: SDHD: Trp43Ter

PubMed Link: 32741965

Variant Present in the following documents:

• NIHMS1619684-supplement-Supplemental_Tables_S1-S3.xlsx, sheet 2

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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: SDHD: 129G>A; Trp43*; rs104894308

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s003.xlsx, sheet 1
• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Characterization of Malignant Head and Neck Paragangliomas at a Single Institution Across Multiple Decades.

Jama Otolaryngology-- Head & Neck Surgery

McCrary, Hilary C HC; Babajanian, Eric E; Calquin, Matias M; Carpenter, Patrick P; Casazza, Geoffrey G; Naumer, Anne A; Greenberg, Samantha S; Kohlmann, Wendy W; Cannon, Richard R; Monroe, Marcus M MM; Hunt, Jason P JP; Buchmann, Luke L

Publication Date: 2019-07-01

Variant appearance in text: SDHD: 129G>A

PubMed Link: 31194233

Variant Present in the following documents:

• Main text

View BVdb publication page

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Tumor multifocality with vagus nerve involvement as a phenotypic marker of SDHD mutation in patients with head and neck paragangliomas: A 18 F-FDOPA PET/CT study.

Head & Neck

Amodru, Vincent V; Romanet, Pauline P; Scemama, Ugo U; Montava, Marion M; Fakhry, Nicolas N; Sebag, Frédéric F; Castinetti, Frédéric F; Lavieille, Jean-Pierre JP; Loundou, Anderson A; Varoquaux, Arthur A; Barlier, Anne A; Pacak, Karel K; Taïeb, David D

Publication Date: 2019-06

Variant appearance in text: SDHD: 129G>A

PubMed Link: 30584686

Variant Present in the following documents:

• Main text

View BVdb publication page

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Succinate dehydrogenase deficiency in a PDGFRA mutated GIST.

Bmc Cancer

Belinsky, Martin G MG; Cai, Kathy Q KQ; Zhou, Yan Y; Luo, Biao B; Pei, Jianming J; Rink, Lori L; von Mehren, Margaret M

Publication Date: 2017-08-02

Variant appearance in text: SDHD: W43*

PubMed Link: 28768491

Variant Present in the following documents:

• Main text
• 12885_2017_Article_3499.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: SDHD: 129G>A; W43X

PubMed Link: 28748451

Variant Present in the following documents:

• Main text
• 13238_2017_Article_451.pdf

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: SDHD: 129G>A; Trp43Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Genetic testing in head and neck paraganglioma: who, what, and why?

Journal Of Neurological Surgery. Part B, Skull Base

Sridhara, Shankar K SK; Yener, Murat M; Hanna, Ehab Y EY; Rich, Thereasa T; Jimenez, Camilo C; Kupferman, Michael E ME

Publication Date: 2013-08

Variant appearance in text: SDHD: Trp43X

PubMed Link: 24436918

Variant Present in the following documents:

• Main text

View BVdb publication page

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Succinate dehydrogenase B subunit immunohistochemical expression predicts aggressiveness in well differentiated neuroendocrine tumors of the ileum.

Cancers

Milione, Massimo M; Pusceddu, Sara S; Gasparini, Patrizia P; Melotti, Flavia F; Maisonneuve, Patrick P; Mazzaferro, Vincenzo V; de Braud, Filippo G FG; Pelosi, Giuseppe G

Publication Date: 2012-08-16

Variant appearance in text: SDHD: W43X

PubMed Link: 24213468

Variant Present in the following documents:

• cancers-04-00808.pdf

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SDHA loss of function mutations in a subset of young adult wild-type gastrointestinal stromal tumors.

Bmc Cancer

Italiano, Antoine A; Chen, Chun-Liang CL; Sung, Yun-Shao YS; Singer, Samuel S; DeMatteo, Ronald P RP; LaQuaglia, Michael P MP; Besmer, Peter P; Socci, Nicholas N; Antonescu, Cristina R CR

Publication Date: 2012-09-14

Variant appearance in text: SDHD: W43X

PubMed Link: 22974104

Variant Present in the following documents:

• 1471-2407-12-408.pdf

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Relevance of germline mutation screening in both familial and sporadic head and neck paraganglioma for early diagnosis and clinical management.

Cellular Oncology : The Official Journal Of The International Society For Cellular Oncology

Hermsen, Mario A MA; Sevilla, María A MA; Llorente, José Luis JL; Weiss, Marjan M MM; Grimbergen, Anneliese A; Allonca, Eva E; Garcia-Inclán, Cristina C; Balbín, Milagros M; Suárez, Carlos C

Publication Date: 2010-01-01

Variant appearance in text: SDHD: 129G>A

PubMed Link: 20208144

Variant Present in the following documents:

• ACP-2010-32-4-312760.pdf

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SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma syndromes.

Journal Of Internal Medicine

Pasini, B B; Stratakis, C A CA

Publication Date: 2009-07

Variant appearance in text: SDHD: Trp43X

PubMed Link: 19522823

Variant Present in the following documents:

• Main text

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Impact of screening kindreds for SDHD p.Cys11X as a common mutation associated with paraganglioma syndrome type 1.

The Journal Of Clinical Endocrinology And Metabolism

Peczkowska, Mariola M; Erlic, Zoran Z; Hoffmann, Michael M MM; Furmanek, Mariusz M; Cwikla, Jaroslaw J; Kubaszek, Agata A; Prejbisz, Aleksander A; Szutkowski, Zbigniew Z; Kawecki, Andrzej A; Chojnowski, Krzysztof K; Lewczuk, Anna A; Litwin, Mieczyslaw M; Szyfter, Witold W; Walter, Martin A MA; Sullivan, Maren M; Eng, Charis C; Januszewicz, Andrzej A; Neumann, Hartmut P H HP

Publication Date: 2008-12

Variant appearance in text: SDHD: Trp43X

PubMed Link: 18826997

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic screening for pheochromocytoma: should SDHC gene analysis be included?

Journal Of Medical Genetics

Mannelli, M M; Ercolino, T T; Giachè, V V; Simi, L L; Cirami, C C; Parenti, G G

Publication Date: 2007-09

Variant appearance in text: SDHD: W43X

PubMed Link: 17557926

Variant Present in the following documents:

• Main text

View BVdb publication page

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