Publications:

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Hypothesis: Why Different Types of SDH Gene Variants Cause Divergent Tumor Phenotypes.

Genes

Bayley, Jean-Pierre JP; Devilee, Peter P

Publication Date: 2022-06-07

Variant appearance in text: SDHD: Tyr114Cys

PubMed Link: 35741787

Variant Present in the following documents:

• Main text
• genes-13-01025.pdf

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Head/neck paragangliomas: focus on tumor location, mutational status and plasma methoxytyramine.

Endocrine-Related Cancer

Richter, Susan S; Qiu, Bei B; Ghering, Mirthe M; Kunath, Carola C; Constantinescu, Georgiana G; Luths, Charlotte C; Pamporaki, Christina C; Bechmann, Nicole N; Meuter, Leah L; Kwapiszewska, Aleksandra A; Deutschbein, Timo T; Nölting, Svenja S; Peitzsch, Mirko M; Robledo, Mercedes M; Prejbisz, Aleksander A; Pacak, Karel K; Gudziol, Volker V; Timmers, Henri J L M HJLM; Eisenhofer, Graeme G

Publication Date: 2022-03-21

Variant appearance in text: SDHD: 341A>G

PubMed Link: 35171114

Variant Present in the following documents:

• Main text
• ERC-21-0359.pdf

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Dutch founder SDHB exon 3 deletion in patients with pheochromocytoma-paraganglioma in South Africa.

Endocrine Connections

Gordon, Debra M DM; Beckers, Pablo P; Castermans, Emilie E; Neggers, Sebastian J C M M SJCMM; Rostomyan, Liliya L; Bours, Vincent V; Petrossians, Patrick P; Dideberg, Vinciane V; Beckers, Albert A; Daly, Adrian F AF

Publication Date: 2022-01-31

Variant appearance in text: SDHD: Tyr114Cys

PubMed Link: 34939938

Variant Present in the following documents:

• Main text
• EC-21-0560.pdf

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Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.

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

Garrett, Alice A; Loveday, Chey C; King, Laura L; Butler, Samantha S; Robinson, Rachel R; Horton, Carrie C; Yussuf, Amal A; Choi, Subin S; Torr, Beth B; Durkie, Miranda M; Burghel, George J GJ; Drummond, James J; Berry, Ian I; Wallace, Andrew A; Callaway, Alison A; Eccles, Diana D; Tischkowitz, Marc M; Tatton-Brown, Katrina K; Snape, Katie K; McVeigh, Terri T; Izatt, Louise L; Woodward, Emma R ER; Burnichon, Nelly N; Gimenez-Roqueplo, Anne-Paule AP; Mazzarotto, Francesco F; Whiffin, Nicola N; Ware, James J; Hanson, Helen H; Pesaran, Tina T; LaDuca, Holly H; Buffet, Alexandre A; Maher, Eamonn R ER; Turnbull, Clare C; ,

Publication Date: 2021-11-19

Variant appearance in text: SDHD: 341A>G; Tyr114Cys

PubMed Link: 34906457

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

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Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.

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

Garrett, Alice A; Loveday, Chey C; King, Laura L; Butler, Samantha S; Robinson, Rachel R; Horton, Carrie C; Yussuf, Amal A; Choi, Subin S; Torr, Beth B; Durkie, Miranda M; Burghel, George J GJ; Drummond, James J; Berry, Ian I; Wallace, Andrew A; Callaway, Alison A; Eccles, Diana D; Tischkowitz, Marc M; Tatton-Brown, Katrina K; Snape, Katie K; McVeigh, Terri T; Izatt, Louise L; Woodward, Emma R ER; Burnichon, Nelly N; Gimenez-Roqueplo, Anne-Paule AP; Mazzarotto, Francesco F; Whiffin, Nicola N; Ware, James J; Hanson, Helen H; Pesaran, Tina T; LaDuca, Holly H; Buffet, Alexandre A; Maher, Eamonn R ER; Turnbull, Clare C; ,

Publication Date: 2022-01

Variant appearance in text: SDHD: 341A>G; Tyr114Cys

PubMed Link: 34906457

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

View BVdb publication page

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: SDHD: 341A>G; Tyr114Cys

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: SDHD: 341A>G; Tyr114Cys

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

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Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.

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

Richter, Susan S; Gieldon, Laura L; Pang, Ying Y; Peitzsch, Mirko M; Huynh, Thanh T; Leton, Rocio R; Viana, Bruna B; Ercolino, Tonino T; Mangelis, Anastasios A; Rapizzi, Elena E; Menschikowski, Mario M; Aust, Daniela D; Kroiss, Matthias M; Beuschlein, Felix F; Gudziol, Volker V; Timmers, Henri Jlm HJ; Lenders, Jacques J; Mannelli, Massimo M; Cascon, Alberto A; Pacak, Karel K; Robledo, Mercedes M; Eisenhofer, Graeme G; Klink, Barbara B

Publication Date: 2019-03

Variant appearance in text: PGL: 341A>G; rs104894304

PubMed Link: 30050099

Variant Present in the following documents:

• Main text
• NIHMS1505462-supplement-Supplementary_information_3.xlsx, sheet 1
• nihms-1505462.pdf

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Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.

Journal Of Medical Genetics

Andrews, Katrina A KA; Ascher, David B DB; Pires, Douglas Eduardo Valente DEV; Barnes, Daniel R DR; Vialard, Lindsey L; Casey, Ruth T RT; Bradshaw, Nicola N; Adlard, Julian J; Aylwin, Simon S; Brennan, Paul P; Brewer, Carole C; Cole, Trevor T; Cook, Jackie A JA; Davidson, Rosemarie R; Donaldson, Alan A; Fryer, Alan A; Greenhalgh, Lynn L; Hodgson, Shirley V SV; Irving, Richard R; Lalloo, Fiona F; McConachie, Michelle M; McConnell, Vivienne P M VPM; Morrison, Patrick J PJ; Murday, Victoria V; Park, Soo-Mi SM; Simpson, Helen L HL; Snape, Katie K; Stewart, Susan S; Tomkins, Susan E SE; Wallis, Yvonne Y; Izatt, Louise L; Goudie, David D; Lindsay, Robert S RS; Perry, Colin G CG; Woodward, Emma R ER; Antoniou, Antonis C AC; Maher, Eamonn R ER

Publication Date: 2018-06

Variant appearance in text: SDHD: 341A>G; Tyr114Cys

PubMed Link: 29386252

Variant Present in the following documents:

• Main text
• jmedgenet-2017-105127.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: SDHD: 341A>G

PubMed Link: 28748451

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 341A>G; Tyr114Cys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients.

Hereditary Cancer In Clinical Practice

Bennedbæk, Marc M; Rossing, Maria M; Rasmussen, Åse K ÅK; Gerdes, Anne-Marie AM; Skytte, Anne-Bine AB; Jensen, Uffe B UB; Nielsen, Finn C FC; Hansen, Thomas V O TVO

Publication Date: 2016

Variant appearance in text: SDHD: Tyr114Cys

PubMed Link: 27279923

Variant Present in the following documents:

• Main text
• 13053_2016_Article_53.pdf

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Deciphering Supramolecular Structures with Protein-Protein Interaction Network Modeling.

Scientific Reports

Tsuji, Toshiyuki T; Yoda, Takao T; Shirai, Tsuyoshi T

Publication Date: 2015-11-09

Variant appearance in text: SDHD: Y114C

PubMed Link: 26549015

Variant Present in the following documents:

• srep16341-s1.pdf

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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: SDHD: Y114C

PubMed Link: 26273102

Variant Present in the following documents:

• ERC150268.pdf

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Instability of succinate dehydrogenase in SDHD polymorphism connects reactive oxygen species production to nuclear and mitochondrial genomic mutations in yeast.

Antioxidants & Redox Signaling

Chang, Ya-Lan YL; Hsieh, Meng-Hsun MH; Chang, Wei-Wen WW; Wang, Hurng-Yi HY; Lin, Mei-Chun MC; Wang, Cheng-Ping CP; Lou, Pei-Jen PJ; Teng, Shu-Chun SC

Publication Date: 2015-03-01

Variant appearance in text: SDHD: Y114C

PubMed Link: 25328978

Variant Present in the following documents:

• Main text

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Integrative genetic, epigenetic and pathological analysis of paraganglioma reveals complex dysregulation of NOTCH signaling.

Acta Neuropathologica

Cama, Alessandro A; Verginelli, Fabio F; Lotti, Lavinia Vittoria LV; Napolitano, Francesco F; Morgano, Annalisa A; D'Orazio, Andria A; Vacca, Michele M; Perconti, Silvia S; Pepe, Felice F; Romani, Federico F; Vitullo, Francesca F; di Lella, Filippo F; Visone, Rosa R; Mannelli, Massimo M; Neumann, Hartmut P H HP; Raiconi, Giancarlo G; Paties, Carlo C; Moschetta, Antonio A; Tagliaferri, Roberto R; Veronese, Angelo A; Sanna, Mario M; Mariani-Costantini, Renato R

Publication Date: 2013-10

Variant appearance in text: SDHD: 341A>G

PubMed Link: 23955600

Variant Present in the following documents:

• 401_2013_1165_MOESM1_ESM.pdf

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A differential diagnosis of inherited endocrine tumors and their tumor counterparts.

Clinics (Sao Paulo, Brazil)

Toledo, Sergio P A SP; Lourenço, Delmar M DM; Toledo, Rodrigo A RA

Publication Date: 2013-07

Variant appearance in text: SDHD: 341A>G; Tyr114Cys

PubMed Link: 23917672

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: PGL: Tyr114Cys

PubMed Link: 19522823

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Tyr114Cys

PubMed Link: 18826997

Variant Present in the following documents:

• Main text

View BVdb publication page

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