Publications:

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Bladder paraganglioma, gastrointestinal stromal tumor, and SDHB germline mutation in a patient with Carney-Stratakis syndrome: A case report and literature review.

Frontiers In Oncology

Shi, Yihang Y; Ding, Li L; Mo, Chengqiang C; Luo, Yanji Y; Huang, Shaoqing S; Cai, Shirong S; Xia, Yanzhe Y; Zhang, Xinhua X

Publication Date: 2022

Variant appearance in text: SDHC: 43C>T

PubMed Link: 36387130

Variant Present in the following documents:

• Main text
• fonc-12-1030092.pdf

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Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort.

Bmc Medicine

Savatt, Juliann M JM; Ortiz, Nicole M NM; Thone, Gretchen M GM; McDonald, Whitney S WS; Kelly, Melissa A MA; Berry, Alexander S F ASF; Alvi, Madiha M MM; Hallquist, Miranda L G MLG; Malinowski, Jennifer J; Purdy, Nicholas C NC; Williams, Marc S MS; Sturm, Amy C AC; Buchanan, Adam H AH

Publication Date: 2022-06-07

Variant appearance in text: SDHC: 43C>T; Arg15Ter

PubMed Link: 35668420

Variant Present in the following documents:

• Main text
• 12916_2022_2375_MOESM1_ESM.xlsx, sheet 1
• 12916_2022_Article_2375.pdf

View BVdb publication page

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Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology

Li, Na N; Wang, Jiahong J; Zhan, Xianquan X

Publication Date: 2021

Variant appearance in text: SDHC: 43C>T; R15*

PubMed Link: 34887858

Variant Present in the following documents:

• Table_4.xlsx, sheet 1

View BVdb publication page

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Prevalence of Germline Variants in a Large Cohort of Japanese Patients with Pheochromocytoma and/or Paraganglioma.

Cancers

Yonamine, Masato M; Wasano, Koichiro K; Aita, Yuichi Y; Sugasawa, Takehito T; Takahashi, Katsutoshi K; Kawakami, Yasushi Y; Shimano, Hitoshi H; Nishiyama, Hiroyuki H; Hara, Hisato H; Naruse, Mitsuhide M; Okamoto, Takahiro T; Matsuda, Tadashi T; Kosugi, Shinji S; Horiguchi, Kazuhiko K; Tanabe, Akiyo A; Watanabe, Atsushi A; Kimura, Noriko N; Nakamura, Eijiro E; Sakurai, Akihiro A; Shiga, Kiyoto K; Takekoshi, Kazuhiro K

Publication Date: 2021-08-09

Variant appearance in text: SDHC: 43C>T; R15*

PubMed Link: 34439168

Variant Present in the following documents:

• Main text
• cancers-13-04014.pdf

View BVdb publication page

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Head and Neck Paragangliomas: Patterns of Otolaryngology Referrals for Genetic Testing Over 2 Decades.

Oto Open

Smith, Joshua D JD; Bellile, Emily L EL; Else, Tobias T; Basura, Gregory G

Publication Date: 2021

Variant appearance in text: SDHC: 43C>T; Arg15ter

PubMed Link: 33748650

Variant Present in the following documents:

• Main text

View BVdb publication page

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Exome sequencing and characterization of 49,960 individuals in the UK Biobank.

Nature

Van Hout, Cristopher V CV; Tachmazidou, Ioanna I; Backman, Joshua D JD; Hoffman, Joshua D JD; Liu, Daren D; Pandey, Ashutosh K AK; Gonzaga-Jauregui, Claudia C; Khalid, Shareef S; Ye, Bin B; Banerjee, Nilanjana N; Li, Alexander H AH; O'Dushlaine, Colm C; Marcketta, Anthony A; Staples, Jeffrey J; Schurmann, Claudia C; Hawes, Alicia A; Maxwell, Evan E; Barnard, Leland L; Lopez, Alexander A; Penn, John J; Habegger, Lukas L; Blumenfeld, Andrew L AL; Bai, Xiaodong X; O'Keeffe, Sean S; Yadav, Ashish A; Praveen, Kavita K; Jones, Marcus M; Salerno, William J WJ; Chung, Wendy K WK; Surakka, Ida I; Willer, Cristen J CJ; Hveem, Kristian K; Leader, Joseph B JB; Carey, David J DJ; Ledbetter, David H DH; , ; Cardon, Lon L; Yancopoulos, George D GD; Economides, Aris A; Coppola, Giovanni G; Shuldiner, Alan R AR; Balasubramanian, Suganthi S; Cantor, Michael M; , ; Nelson, Matthew R MR; Whittaker, John J; Reid, Jeffrey G JG; Marchini, Jonathan J; Overton, John D JD; Scott, Robert A RA; Abecasis, Gonçalo R GR; Yerges-Armstrong, Laura L; Baras, Aris A

Publication Date: 2020-10

Variant appearance in text: SDHC: 43C>T; Arg15*; rs201286421

PubMed Link: 33087929

Variant Present in the following documents:

• 41586_2020_2853_MOESM11_ESM.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: SDHC: Arg15Ter

PubMed Link: 32741965

Variant Present in the following documents:

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

View BVdb publication page

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Genetic screening for monogenic hypertension in hypertensive individuals in a clinical setting.

Journal Of Medical Genetics

Bao, Minghui M; Li, Ping P; Li, Qifu Q; Chen, Hui H; Zhong, Ying Y; Li, Shuangyue S; Jin, Ling L; Wang, Wenjie W; Chen, Zhenzhen Z; Zhong, Jiuchang J; Geng, Bin B; Fan, Yuxin Y; Yang, Xinchun X; Cai, Jun J

Publication Date: 2020-08

Variant appearance in text: SDHC: 43C>T

PubMed Link: 32561571

Variant Present in the following documents:

• jmedgenet-2019-106145supp001.pdf

View BVdb publication page

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: SDHC: 43C>T; R15*

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Optimizing Genetic Workup in Pheochromocytoma and Paraganglioma by Integrating Diagnostic and Research Approaches.

Cancers

Gieldon, Laura L; William, Doreen D; Hackmann, Karl K; Jahn, Winnie W; Jahn, Arne A; Wagner, Johannes J; Rump, Andreas A; Bechmann, Nicole N; Nölting, Svenja S; Knösel, Thomas T; Gudziol, Volker V; Constantinescu, Georgiana G; Masjkur, Jimmy J; Beuschlein, Felix F; Timmers, Henri Jlm HJ; Canu, Letizia L; Pacak, Karel K; Robledo, Mercedes M; Aust, Daniela D; Schröck, Evelin E; Eisenhofer, Graeme G; Richter, Susan S; Klink, Barbara B

Publication Date: 2019-06-11

Variant appearance in text: SDHC: 43C>T; Arg15*

PubMed Link: 31212687

Variant Present in the following documents:

• Main text

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: SDHC: R15X

PubMed Link: 31194233

Variant Present in the following documents:

• Main text

View BVdb publication page

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Toward automation of germline variant curation in clinical cancer genetics.

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

Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J

Publication Date: 2019-09

Variant appearance in text: SDHC: 20+9211C>T; Arg15X

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

View BVdb publication page

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Effects of dichloroacetate as single agent or in combination with GW6471 and metformin in paraganglioma cells.

Scientific Reports

Florio, Rosalba R; De Lellis, Laura L; Veschi, Serena S; Verginelli, Fabio F; di Giacomo, Viviana V; Gallorini, Marialucia M; Perconti, Silvia S; Sanna, Mario M; Mariani-Costantini, Renato R; Natale, Angelica A; Arduini, Arduino A; Amoroso, Rosa R; Cataldi, Amelia A; Cama, Alessandro A

Publication Date: 2018-09-11

Variant appearance in text: SDHC: Arg15*

PubMed Link: 30206358

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: SDHC: 43C>T; Arg15*; rs201286421

PubMed Link: 30050099

Variant Present in the following documents:

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

View BVdb publication page

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A Unique Case of Metastatic, Functional, Hereditary Paraganglioma Associated With an SDHC Germline Mutation.

The Journal Of Clinical Endocrinology And Metabolism

Ong, Raquel Kristin S RKS; Flores, Shahida K SK; Reddick, Robert L RL; Dahia, Patricia L M PLM; Shawa, Hassan H

Publication Date: 2018-08-01

Variant appearance in text: SDHC: 43C>T; R15X

PubMed Link: 29878124

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: SDHC: 43C>T; Arg15X

PubMed Link: 29386252

Variant Present in the following documents:

• Main text
• jmedgenet-2017-105127.pdf

View BVdb publication page

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Paragangliomas arise through an autonomous vasculo-angio-neurogenic program inhibited by imatinib.

Acta Neuropathologica

Verginelli, Fabio F; Perconti, Silvia S; Vespa, Simone S; Schiavi, Francesca F; Prasad, Sampath Chandra SC; Lanuti, Paola P; Cama, Alessandro A; Tramontana, Lorenzo L; Esposito, Diana Liberata DL; Guarnieri, Simone S; Sheu, Artenca A; Pantalone, Mattia Russel MR; Florio, Rosalba R; Morgano, Annalisa A; Rossi, Cosmo C; Bologna, Giuseppina G; Marchisio, Marco M; D'Argenio, Andrea A; Taschin, Elisa E; Visone, Rosa R; Opocher, Giuseppe G; Veronese, Angelo A; Paties, Carlo T CT; Rajasekhar, Vinagolu K VK; Söderberg-Nauclér, Cecilia C; Sanna, Mario M; Lotti, Lavinia Vittoria LV; Mariani-Costantini, Renato R

Publication Date: 2018-05

Variant appearance in text: SDHC: 43C>T; Arg15*

PubMed Link: 29305721

Variant Present in the following documents:

• 401_2017_1799_MOESM1_ESM.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: SDHC: 43C>T

PubMed Link: 28748451

Variant Present in the following documents:

• Main text

View BVdb publication page

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Effects of PPARα inhibition in head and neck paraganglioma cells.

Plos One

Florio, Rosalba R; De Lellis, Laura L; di Giacomo, Viviana V; Di Marcantonio, Maria Carmela MC; Cristiano, Loredana L; Basile, Mariangela M; Verginelli, Fabio F; Verzilli, Delfina D; Ammazzalorso, Alessandra A; Prasad, Sampath Chandra SC; Cataldi, Amelia A; Sanna, Mario M; Cimini, Annamaria A; Mariani-Costantini, Renato R; Mincione, Gabriella G; Cama, Alessandro A

Publication Date: 2017

Variant appearance in text: SDHC: 43C>T

PubMed Link: 28594934

Variant Present in the following documents:

• Main text
• pone.0178995.pdf

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: SDHC: 43C>T; Arg15Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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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: SDHC: 43C>T; R15*

PubMed Link: 28152038

Variant Present in the following documents:

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

View BVdb publication page

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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: SDHC: Arg15Ter

PubMed Link: 27279923

Variant Present in the following documents:

• Main text
• 13053_2016_Article_53.pdf

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: R15*

PubMed Link: 26273102

Variant Present in the following documents:

• ERC150268.pdf

View BVdb publication page

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The clinical phenotype of SDHC-associated hereditary paraganglioma syndrome (PGL3).

The Journal Of Clinical Endocrinology And Metabolism

Else, Tobias T; Marvin, Monica L ML; Everett, Jessica N JN; Gruber, Stephen B SB; Arts, H Alexander HA; Stoffel, Elena M EM; Auchus, Richard J RJ; Raymond, Victoria M VM

Publication Date: 2014-08

Variant appearance in text: SDHC: 43C>T

PubMed Link: 24758179

Variant Present in the following documents:

• Main text

View BVdb publication page

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Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

American Journal Of Human Genetics

Johnston, Jennifer J JJ; Rubinstein, Wendy S WS; Facio, Flavia M FM; Ng, David D; Singh, Larry N LN; Teer, Jamie K JK; Mullikin, James C JC; Biesecker, Leslie G LG

Publication Date: 2012-07-13

Variant appearance in text: SDHC: 43C>T

PubMed Link: 22703879

Variant Present in the following documents:

• Main text

View BVdb publication page

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