Publications:

---

Single-nuclei and bulk-tissue gene-expression analysis of pheochromocytoma and paraganglioma links disease subtypes with tumor microenvironment.

Nature Communications

Zethoven, Magnus M; Martelotto, Luciano L; Pattison, Andrew A; Bowen, Blake B; Balachander, Shiva S; Flynn, Aidan A; Rossello, Fernando J FJ; Hogg, Annette A; Miller, Julie A JA; Frysak, Zdenek Z; Grimmond, Sean S; Fishbein, Lauren L; Tischler, Arthur S AS; Gill, Anthony J AJ; Hicks, Rodney J RJ; Dahia, Patricia L M PLM; Clifton-Bligh, Roderick R; Pacak, Karel K; Tothill, Richard W RW

Publication Date: 2022-10-21

Variant appearance in text: SDHB: Trp200Cys

PubMed Link: 36271074

Variant Present in the following documents:

• 41467_2022_34011_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

---

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: SDHB: 600G>T; Trp200Cys

PubMed Link: 35668420

Variant Present in the following documents:

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

View BVdb publication page

---

Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.

Human Molecular Genetics

Yngvadottir, Bryndis B; Andreou, Avgi A; Bassaganyas, Laia L; Larionov, Alexey A; Cornish, Alex J AJ; Chubb, Daniel D; Saunders, Charlie N CN; Smith, Philip S PS; Zhang, Huairen H; Cole, Yasemin Y; Research Consortium, Genomics England GE; Larkin, James J; Browning, Lisa L; Turajlic, Samra S; Litchfield, Kevin K; Houlston, Richard S RS; Maher, Eamonn R ER

Publication Date: 2022-08-25

Variant appearance in text: SDHB: 600G>T; Trp200Cys; rs397516836

PubMed Link: 35441217

Variant Present in the following documents:

• Main text
• ddac089.pdf
• hmg_supplementary_tables_1_2_5_6_revised_ddac089.xlsx, sheet 1

View BVdb publication page

---

Are transient protein-protein interactions more dispensable?

Plos Computational Biology

Ghadie, Mohamed Ali MA; Xia, Yu Y

Publication Date: 2022-04

Variant appearance in text: SDHB: 600G>T; Trp200Cys

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

View BVdb publication page

---

Tumour detection and outcomes of surveillance screening in SDHB and SDHD pathogenic variant carriers.

Endocrine Connections

White, Gemma G; Velusamy, Anand A; Anandappa, Samantha S; Masucci, Michael M; Breen, Louise A LA; Joshi, Mamta M; McGowan, Barbara B; Hubbard, Johnathan G H JGH; Obholzer, Rupert R; Christodoulou, Dimitra D; Jacques, Audrey A; Touska, Philip P; Hassan, Fahim-Ul FU; Izatt, Louise L; Carroll, Paul V PV

Publication Date: 2022-02-16

Variant appearance in text: SDHB: 600G>T

PubMed Link: 35060925

Variant Present in the following documents:

• Main text
• EC-21-0602.pdf

View BVdb publication page

---

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: SDHB: 600G>T; Trp200Cys

PubMed Link: 34906457

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

View BVdb publication page

---

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: SDHB: 600G>T; Trp200Cys

PubMed Link: 34906457

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

View BVdb publication page

---

SDH-deficient renal cell carcinoma: A case report associated with a novel germline mutation.

Clinical Case Reports

Milionis, Vassilis V; Goutas, Dimitrios D; Vlachodimitropoulos, Dimitrios D; Katsoulas, Nikolaos N; Kyriazis, Iason D ID; Liatsikos, Evangelos N EN; Marinakis, Nikolaos N; Joanne, Traeger-Synodinos TS; Lazaris, Andreas C AC; Goutas, Nikolaos N

Publication Date: 2021-10

Variant appearance in text: SDHB: 600G>T

PubMed Link: 34703596

Variant Present in the following documents:

• Main text

View BVdb publication page

---

International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma.

Journal Of Medical Genetics

Ben Aim, Laurene L; Maher, Eamonn R ER; Cascon, Alberto A; Barlier, Anne A; Giraud, Sophie S; Ercolino, Tonino T; Pigny, Pascal P; Clifton-Bligh, Roderick J RJ; Mirebeau-Prunier, Delphine D; Mohamed, Amira A; Favier, Judith J; Gimenez-Roqueplo, Anne-Paule AP; Schiavi, Francesca F; Toledo, Rodrigo A RA; Dahia, Patricia L PL; Robledo, Mercedes M; Bayley, Jean Pierre JP; Burnichon, Nelly N

Publication Date: 2022-08

Variant appearance in text: SDHB: 600G>T; Trp200Cys; rs397516836

PubMed Link: 34452955

Variant Present in the following documents:

• jmedgenet-2020-107652supp002.xlsx, sheet 1

View BVdb publication page

---

Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Bmc Medicine

Haverfield, Eden V EV; Esplin, Edward D ED; Aguilar, Sienna J SJ; Hatchell, Kathryn E KE; Ormond, Kelly E KE; Hanson-Kahn, Andrea A; Atwal, Paldeep S PS; Macklin-Mantia, Sarah S; Hines, Stephanie S; Sak, Caron W-M CW; Tucker, Steven S; Bleyl, Steven B SB; Hulick, Peter J PJ; Gordon, Ora K OK; Velsher, Lea L; Gu, Jessica Y J JYJ; Weissman, Scott M SM; Kruisselbrink, Teresa T; Abel, Christopher C; Kettles, Michele M; Slavotinek, Anne A; Mendelsohn, Bryce A BA; Green, Robert C RC; Aradhya, Swaroop S; Nussbaum, Robert L RL

Publication Date: 2021-08-18

Variant appearance in text: SDHB: 600G>T; Trp200Cys

PubMed Link: 34404389

Variant Present in the following documents:

• 12916_2021_1999_MOESM2_ESM.pdf

View BVdb publication page

---

KIT Mutation in Gastric Gastrointestinal Stromal Tumor in a Patient With Familial Paraganglioma Syndrome Type 4.

Aace Clinical Case Reports

Houlden, Robyn L RL; Hawco, Cassandra L A CLA

Publication Date: 2021

Variant appearance in text: SDHB: 600G>T; Trp200Cys

PubMed Link: 34095481

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

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: SDHB: 600G>T; Trp200Cys

PubMed Link: 33087929

Variant Present in the following documents:

• 41586_2020_2853_MOESM11_ESM.xlsx, sheet 1

View BVdb publication page

---

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: SDHB: Trp200Cys

PubMed Link: 32741965

Variant Present in the following documents:

• NIHMS1619684-supplement-Supplemental_Tables_S1-S3.xlsx, sheet 2
• NIHMS1619684-supplement-Supplemental_Tables_S1-S3.xlsx, sheet 3

View BVdb publication page

---

Clinical characteristics and outcomes of SDHB-related pheochromocytoma and paraganglioma in children and adolescents.

Journal Of Cancer Research And Clinical Oncology

Jochmanova, Ivana I; Abcede, April Melody T AMT; Guerrero, Ruby Jane S RJS; Malong, Chandy Lou P CLP; Wesley, Robert R; Huynh, Thanh T; Gonzales, Melissa K MK; Wolf, Katherine I KI; Jha, Abhishek A; Knue, Marianne M; Prodanov, Tamara T; Nilubol, Naris N; Mercado-Asis, Leilani B LB; Stratakis, Constantine A CA; Pacak, Karel K

Publication Date: 2020-04

Variant appearance in text: SDHB: 600G>T; Trp200Cys

PubMed Link: 32062700

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The Impact Of Succinate Dehydrogenase Gene (SDH) Mutations In Renal Cell Carcinoma (RCC): A Systematic Review.

Oncotargets And Therapy

Aghamir, Seyed Mohammad Kazem SMK; Heshmat, Ramin R; Ebrahimi, Mehdi M; Ketabchi, Seyed Ebrahim SE; Parichehreh Dizaji, Somayeh S; Khatami, Fatemeh F

Publication Date: 2019

Variant appearance in text: SDHB: 600G>T

PubMed Link: 31579262

Variant Present in the following documents:

• Main text
• ott-12-7929.pdf

View BVdb publication page

---

REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: SDHB: 600G>T; W200C

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Translating in vivo metabolomic analysis of succinate dehydrogenase deficient tumours into clinical utility.

Jco Precision Oncology

Casey, Ruth T RT; McLean, Mary A MA; Madhu, Basetti B; Challis, Benjamin G BG; Ten Hoopen, Rogier R; Roberts, Thomas T; Clark, Graeme R GR; Pittfield, Deborah D; Simpson, Helen L HL; Bulusu, Venkata R VR; Allinson, Kieran K; Happerfield, Lisa L; Park, Soo-Mi SM; Marker, Alison A; Giger, Olivier O; Maher, Eamonn R ER; Gallagher, Ferdia A FA

Publication Date: 2018-03-29

Variant appearance in text: SDHB: 600G>T; Trp200Cys

PubMed Link: 30949620

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: SDHB: 600G>T; Trp200Cys

PubMed Link: 29386252

Variant Present in the following documents:

• Main text
• jmedgenet-2017-105127.pdf

View BVdb publication page

---

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: SDHB: 600G>T

PubMed Link: 28748451

Variant Present in the following documents:

• Main text
• 13238_2017_Article_451.pdf

View BVdb publication page

---

SDHB-related pheochromocytoma and paraganglioma penetrance and genotype-phenotype correlations.

Journal Of Cancer Research And Clinical Oncology

Jochmanova, Ivana I; Wolf, Katherine I KI; King, Kathryn S KS; Nambuba, Joan J; Wesley, Robert R; Martucci, Victoria V; Raygada, Margarita M; Adams, Karen T KT; Prodanov, Tamara T; Fojo, Antonio Tito AT; Lazurova, Ivica I; Pacak, Karel K

Publication Date: 2017-08

Variant appearance in text: SDHB: 600G>T; Trp200Cys

PubMed Link: 28374168

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: SDHB: 600G>T; W200C

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

---

Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB.

Cell Metabolism

Maio, Nunziata N; Ghezzi, Daniele D; Verrigni, Daniela D; Rizza, Teresa T; Bertini, Enrico E; Martinelli, Diego D; Zeviani, Massimo M; Singh, Anamika A; Carrozzo, Rosalba R; Rouault, Tracey A TA

Publication Date: 2016-02-09

Variant appearance in text: N/A

PubMed Link: 26749241

Variant Present in the following documents:

View BVdb publication page

---

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: SDHB: W200C

PubMed Link: 26273102

Variant Present in the following documents:

• ERC150268.pdf

View BVdb publication page

---

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: SDHB: 600G>T; W200C

PubMed Link: 26173966

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: SDHB: 600G>T; W200C

PubMed Link: 24886695

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: N/A

PubMed Link: 23282968

Variant Present in the following documents:

View BVdb publication page

---

Missense mutations in the human SDHB gene increase protein degradation without altering intrinsic enzymatic function.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology

Yang, Chunzhang C; Matro, Joey C JC; Huntoon, Kristin M KM; Ye, Donald Y DY; Huynh, Thanh T TT; Fliedner, Stephanie M J SM; Breza, Jan J; Zhuang, Zhengping Z; Pacak, Karel K

Publication Date: 2012-11

Variant appearance in text: N/A

PubMed Link: 22835832

Variant Present in the following documents:

View BVdb publication page

---

Succinate dehydrogenase gene mutations are strongly associated with paraganglioma of the organ of Zuckerkandl.

Endocrine-Related Cancer

Lodish, Maya B MB; Adams, Karen T KT; Huynh, Thanh T TT; Prodanov, Tamara T; Ling, Alex A; Chen, Clara C; Shusterman, Suzanne S; Jimenez, Camilo C; Merino, Maria M; Hughes, Marybeth M; Cradic, Kendall W KW; Milosevic, Dragana D; Singh, Ravinder J RJ; Stratakis, Constantine A CA; Pacak, Karel K

Publication Date: 2010-09

Variant appearance in text: N/A

PubMed Link: 20418362

Variant Present in the following documents:

View BVdb publication page

---

Biochemically silent abdominal paragangliomas in patients with mutations in the succinate dehydrogenase subunit B gene.

The Journal Of Clinical Endocrinology And Metabolism

Timmers, Henri J L M HJ; Pacak, Karel K; Huynh, Thanh T TT; Abu-Asab, Mones M; Tsokos, Maria M; Merino, Maria J MJ; Baysal, Bora E BE; Adams, Karen T KT; Eisenhofer, Graeme G

Publication Date: 2008-12

Variant appearance in text: N/A

PubMed Link: 18840642

Variant Present in the following documents:

View BVdb publication page

---