Publications:

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Extensive intratumor regional epigenetic heterogeneity in clear cell renal cell carcinoma targets kidney enhancers and is associated with poor outcome.

Clinical Epigenetics

El Khoury, Louis Y LY; Pan, Xiaoyu X; Hlady, Ryan A RA; Wagner, Ryan T RT; Shaikh, Shafiq S; Wang, Liguo L; Humphreys, Mitchell R MR; Castle, Erik P EP; Stanton, Melissa L ML; Ho, Thai H TH; Robertson, Keith D KD

Publication Date: 2023-04-29

Variant appearance in text: SDHB: S163P

PubMed Link: 37120552

Variant Present in the following documents:

• 13148_2023_1471_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Cell Reports. Medicine

Álvarez-Prado, Ángel F ÁF; Maas, Roeltje R RR; Soukup, Klara K; Klemm, Florian F; Kornete, Mara M; Krebs, Fanny S FS; Zoete, Vincent V; Berezowska, Sabina S; Brouland, Jean-Philippe JP; Hottinger, Andreas F AF; Daniel, Roy T RT; Hegi, Monika E ME; Joyce, Johanna A JA

Publication Date: 2023-01-17

Variant appearance in text: SDHB: S163P

PubMed Link: 36652909

Variant Present in the following documents:

• mmc3.xlsx, sheet 32

View BVdb publication page

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Hereditary variants of unknown significance in African American women with breast cancer.

Plos One

McDonald, J Tyson JT; Ricks-Santi, Luisel J LJ

Publication Date: 2022

Variant appearance in text: SDHB: S163P; rs33927012

PubMed Link: 36315513

Variant Present in the following documents:

• pone.0273835.s001.xlsx, sheet 1

View BVdb publication page

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Succinate dehydrogenase and MYC-associated factor X mutations in pituitary neuroendocrine tumours.

Endocrine-Related Cancer

Loughrey, Paul Benjamin PB; Roncaroli, Federico F; Healy, Estelle E; Weir, Philip P; Basetti, Madhu M; Casey, Ruth T RT; Hunter, Steven J SJ; Korbonits, Márta M

Publication Date: 2022-10-01

Variant appearance in text: SDHB: 487T>C; Ser163Pro

PubMed Link: 35938916

Variant Present in the following documents:

• Main text
• ERC-22-0157.pdf

View BVdb publication page

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Breast carcinomas with osteoclast-like giant cells: a comprehensive clinico-pathological and molecular portrait and evidence of RANK-L expression.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Cyrta, Joanna J; Benoist, Camille C; Masliah-Planchon, Julien J; Vieira, Andre F AF; Pierron, Gaëlle G; Fuhrmann, Laetitia L; Richardot, Camille C; Caly, Martial M; Leclere, Renaud R; Mariani, Odette O; Da Maia, Elisabeth E; Larousserie, Frédérique F; Féron, Jean Guillaume JG; Carton, Matthieu M; Renault, Victor V; Bidard, François-Clément FC; Vincent-Salomon, Anne A

Publication Date: 2022-11

Variant appearance in text: SDHB: 487T>C; Ser163Pro

PubMed Link: 35697931

Variant Present in the following documents:

• 41379_2022_1112_MOESM2_ESM.xlsx, sheet 5

View BVdb publication page

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Germline mutations in mitochondrial complex I reveal genetic and targetable vulnerability in IDH1-mutant acute myeloid leukaemia.

Nature Communications

Bassal, Mahmoud A MA; Samaraweera, Saumya E SE; Lim, Kelly K; Benard, Brooks A BA; Bailey, Sheree S; Kaur, Satinder S; Leo, Paul P; Toubia, John J; Thompson-Peach, Chloe C; Nguyen, Tran T; Maung, Kyaw Ze Ya KZY; Casolari, Debora A DA; Iarossi, Diana G DG; Pagani, Ilaria S IS; Powell, Jason J; Pitson, Stuart S; Natera, Siria S; Roessner, Ute U; Lewis, Ian D ID; Brown, Anna L AL; Tenen, Daniel G DG; Robinson, Nirmal N; Ross, David M DM; Majeti, Ravindra R; Gonda, Thomas J TJ; Thomas, Daniel D; D'Andrea, Richard J RJ

Publication Date: 2022-05-12

Variant appearance in text: SDHB: S163P

PubMed Link: 35551192

Variant Present in the following documents:

• 41467_2022_30223_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: SDHB: S163P; rs33927012

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 12

View BVdb publication page

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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: SDHB: 487T>C; Ser163Pro

PubMed Link: 34906457

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

View BVdb publication page

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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: SDHB: 487T>C; Ser163Pro

PubMed Link: 34906457

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

View BVdb publication page

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Efficacy and safety of 225Ac-DOTATATE targeted alpha therapy in metastatic paragangliomas: a pilot study.

European Journal Of Nuclear Medicine And Molecular Imaging

Yadav, Madhav Prasad MP; Ballal, Sanjana S; Sahoo, Ranjit Kumar RK; Bal, Chandrasekhar C

Publication Date: 2022-04

Variant appearance in text: SDHB: S163P

PubMed Link: 34837103

Variant Present in the following documents:

• Main text
• 259_2021_Article_5632.pdf

View BVdb publication page

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Efficacy and safety of 225Ac-DOTATATE targeted alpha therapy in metastatic paragangliomas: a pilot study.

European Journal Of Nuclear Medicine And Molecular Imaging

Yadav, Madhav Prasad MP; Ballal, Sanjana S; Sahoo, Ranjit Kumar RK; Bal, Chandrasekhar C

Publication Date: 2021-11-27

Variant appearance in text: SDHB: S163P

PubMed Link: 34837103

Variant Present in the following documents:

• Main text
• 259_2021_Article_5632.pdf

View BVdb publication page

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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: 487T>C; Ser163Pro; rs33927012

PubMed Link: 34452955

Variant Present in the following documents:

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

View BVdb publication page

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Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

Scientific Reports

von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I

Publication Date: 2021-03-05

Variant appearance in text: SDHB: 487T>C; Ser163Pro; rs33927012

PubMed Link: 33674644

Variant Present in the following documents:

• 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page

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Genotype-phenotype associations in PPGLs in 59 patients with variants in SDHX genes.

Endocrine Connections

Main, Ailsa Maria AM; Rossing, Maria M; Borgwardt, Line L; Grønkær Toft, Birgitte B; Rasmussen, Åse Krogh ÅK; Feldt-Rasmussen, Ulla U

Publication Date: 2020-08

Variant appearance in text: SDHB: 487T>C; Ser163Pro

PubMed Link: 32688340

Variant Present in the following documents:

• Main text
• supplementary_table_1.pdf

View BVdb publication page

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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: 487T>C; S163P

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Molecular Profiling of Hard-to-Treat Childhood and Adolescent Cancers.

Jama Network Open

Khater, Fida F; Vairy, Stephanie S; Langlois, Sylvie S; Dumoucel, Sophie S; Sontag, Thomas T; St-Onge, Pascal P; Bittencourt, Henrique H; Dal Soglio, Dorothée D; Champagne, Josette J; Duval, Michel M; Leclerc, Jean-Marie JM; Laverdiere, Caroline C; Tran, Thai Hoa TH; Patey, Natalie N; Ellezam, Benjamin B; Perreault, Sébastien S; Piché, Nelson N; Samson, Yvan Y; Teira, Pierre P; Jabado, Nada N; Michon, Bruno B; Brossard, Josée J; Marzouki, Monia M; Cellot, Sonia S; Sinnett, Daniel D

Publication Date: 2019-04-05

Variant appearance in text: SDHB: S163P

PubMed Link: 31026031

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: SDHB: 487T>C; Ser163Pro

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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TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications

Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N

Publication Date: 2018-11-01

Variant appearance in text: SDHB: S163P; rs33927012

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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The 3PAs: An Update on the Association of Pheochromocytomas, Paragangliomas, and Pituitary Tumors.

Hormone And Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme

Xekouki, Paraskevi P; Brennand, Ana A; Whitelaw, Ben B; Pacak, Karel K; Stratakis, Constantine A CA

Publication Date: 2019-07

Variant appearance in text: SDHB: 487T>C; Ser163Pro

PubMed Link: 30273935

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: SDHB: 487T>C; Ser163Pro; rs33927012

PubMed Link: 30050099

Variant Present in the following documents:

• NIHMS1505462-supplement-Supplementary_information_3.xlsx, sheet 1

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: SDHB: Ser163Pro

PubMed Link: 29386252

Variant Present in the following documents:

• Main text
• jmedgenet-2017-105127.pdf

View BVdb publication page

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A MUTYH germline mutation is associated with small intestinal neuroendocrine tumors.

Endocrine-Related Cancer

Dumanski, Jan P JP; Rasi, Chiara C; Björklund, Peyman P; Davies, Hanna H; Ali, Abir S AS; Grönberg, Malin M; Welin, Staffan S; Sorbye, Halfdan H; Grønbæk, Henning H; Cunningham, Janet L JL; Forsberg, Lars A LA; Lind, Lars L; Ingelsson, Erik E; Stålberg, Peter P; Hellman, Per P; Tiensuu Janson, Eva E

Publication Date: 2017-08

Variant appearance in text: SDHB: Ser163Pro; rs33927012

PubMed Link: 28634180

Variant Present in the following documents:

• Main text
• erc-24-427.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: SDHB: 487T>C; Ser163Pro

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.

Breast Cancer Research : Bcr

Melloni, Giorgio E M GEM; Mazzarella, Luca L; Bernard, Loris L; Bodini, Margherita M; Russo, Anna A; Luzi, Lucilla L; Pelicci, Pier Giuseppe PG; Riva, Laura L

Publication Date: 2017-05-31

Variant appearance in text: rs33927012

PubMed Link: 28569218

Variant Present in the following documents:

• 13058_2017_854_MOESM2_ESM.xlsx, sheet 5

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: SDHB: S163P; rs33927012

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 9

View BVdb publication page

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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: 487T>C; Ser163Pro

PubMed Link: 28374168

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.

Plos One

He, Karen Y KY; Zhao, Yiqing Y; McPherson, Elizabeth W EW; Li, Quan Q; Xia, Fan F; Weng, Chunhua C; Wang, Kai K; He, Max M MM

Publication Date: 2016

Variant appearance in text: SDHB: S163P; rs33927012

PubMed Link: 27930734

Variant Present in the following documents:

• pone.0167847.s002.xls, 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: SDHB: Ser163Pro

PubMed Link: 27279923

Variant Present in the following documents:

• Main text
• 13053_2016_Article_53.pdf

View BVdb publication page

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Comparative genomic analysis of primary tumors and metastases in breast cancer.

Oncotarget

Bertucci, François F; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Garnier, Séverine S; Carbuccia, Nadine N; Monneur, Audrey A; Charafe-Jauffret, Emmanuelle E; Goncalves, Anthony A; Viens, Patrice P; Birnbaum, Daniel D; Chaffanet, Max M

Publication Date: 2016-05-10

Variant appearance in text: SDHB: S163P

PubMed Link: 27028851

Variant Present in the following documents:

• oncotarget-07-27208-s001.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: SDHB: S163P

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: SDHB: S163P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Human Genomics

Karageorgos, Ioannis I; Mizzi, Clint C; Giannopoulou, Efstathia E; Pavlidis, Cristiana C; Peters, Brock A BA; Zagoriti, Zoi Z; Stenson, Peter D PD; Mitropoulos, Konstantinos K; Borg, Joseph J; Kalofonos, Haralabos P HP; Drmanac, Radoje R; Stubbs, Andrew A; van der Spek, Peter P; Cooper, David N DN; Katsila, Theodora T; Patrinos, George P GP

Publication Date: 2015-06-20

Variant appearance in text: SDHB: 487T>C; S163P; rs33927012

PubMed Link: 26092435

Variant Present in the following documents:

• Main text
• 40246_2015_34_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Pituitary adenoma with paraganglioma/pheochromocytoma (3PAs) and succinate dehydrogenase defects in humans and mice.

The Journal Of Clinical Endocrinology And Metabolism

Xekouki, Paraskevi P; Szarek, Eva E; Bullova, Petra P; Giubellino, Alessio A; Quezado, Martha M; Mastroyannis, Spyridon A SA; Mastorakos, Panagiotis P; Wassif, Christopher A CA; Raygada, Margarita M; Rentia, Nadia N; Dye, Louis L; Cougnoux, Antony A; Koziol, Deloris D; Sierra, Maria de La Luz Mde L; Lyssikatos, Charalampos C; Belyavskaya, Elena E; Malchoff, Carl C; Moline, Jessica J; Eng, Charis C; Maher, Louis James LJ; Pacak, Karel K; Lodish, Maya M; Stratakis, Constantine A CA

Publication Date: 2015-05

Variant appearance in text: SDHB: Ser163Pro; rs33927012

PubMed Link: 25695889

Variant Present in the following documents:

• Main text

View BVdb publication page

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Germline and somatic SDHx alterations in apparently sporadic differentiated thyroid cancer.

Endocrine-Related Cancer

Ni, Ying Y; Seballos, Spencer S; Ganapathi, Shireen S; Gurin, Danielle D; Fletcher, Benjamin B; Ngeow, Joanne J; Nagy, Rebecca R; Kloos, Richard T RT; Ringel, Matthew D MD; LaFramboise, Thomas T; Eng, Charis C

Publication Date: 2015-04

Variant appearance in text: SDHB: S163P; rs33927012

PubMed Link: 25694510

Variant Present in the following documents:

• Main text
• ERC140537.pdf

View BVdb publication page

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Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications

Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP

Publication Date: 2014-12-24

Variant appearance in text: SDHB: 487T>C; S163P; rs33927012

PubMed Link: 25589003

Variant Present in the following documents:

• 40478_2014_167_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: SDHB: S163P; rs33927012

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Germline PTEN, SDHB-D, and KLLN alterations in endometrial cancer patients with Cowden and Cowden-like syndromes: an international, multicenter, prospective study.

Cancer

Mahdi, Haider H; Mester, Jessica L JL; Nizialek, Emily A EA; Ngeow, Joanne J; Michener, Chad C; Eng, Charis C

Publication Date: 2015-03-01

Variant appearance in text: SDHB: 487T>C; Ser163Pro

PubMed Link: 25376524

Variant Present in the following documents:

• Main text

View BVdb publication page

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The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research

Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR

Publication Date: 2014-12-16

Variant appearance in text: SDHB: S163P; rs33927012

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 20

View BVdb publication page

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Disease variants in genomes of 44 centenarians.

Molecular Genetics & Genomic Medicine

Freudenberg-Hua, Yun Y; Freudenberg, Jan J; Vacic, Vladimir V; Abhyankar, Avinash A; Emde, Anne-Katrin AK; Ben-Avraham, Danny D; Barzilai, Nir N; Oschwald, Dayna D; Christen, Erika E; Koppel, Jeremy J; Greenwald, Blaine B; Darnell, Robert B RB; Germer, Soren S; Atzmon, Gil G; Davies, Peter P

Publication Date: 2014-09

Variant appearance in text: SDHB: S163P; rs33927012

PubMed Link: 25333069

Variant Present in the following documents:

• Main text
• mgg30002-0438.pdf

View BVdb publication page

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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: SDHB: S163P; rs33927012

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

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PATH-SCAN: a reporting tool for identifying clinically actionable variants.

Pacific Symposium On Biocomputing. Pacific Symposium On Biocomputing

Daneshjou, Roxana R; Zappala, Zachary Z; Kukurba, Kim K; Boyle, Sean M SM; Ormond, Kelly E KE; Klein, Teri E TE; Snyder, Michael M; Bustamante, Carlos D CD; Altman, Russ B RB; Montgomery, Stephen B SB

Publication Date: 2014

Variant appearance in text: rs33927012

PubMed Link: 24297550

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sequencing and analysis of a South Asian-Indian personal genome.

Bmc Genomics

Gupta, Ravi R; Ratan, Aakrosh A; Rajesh, Changanamkandath C; Chen, Rong R; Kim, Hie Lim HL; Burhans, Richard R; Miller, Webb W; Santhosh, Sam S; Davuluri, Ramana V RV; Butte, Atul J AJ; Schuster, Stephan C SC; Seshagiri, Somasekar S; Thomas, George G

Publication Date: 2012-08-31

Variant appearance in text: SDHB: S163P

PubMed Link: 22938532

Variant Present in the following documents:

• Main text
• 1471-2164-13-440.pdf

View BVdb publication page

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Over-representation of the G12S polymorphism of the SDHD gene in patients with MEN2A syndrome.

Clinics (Sao Paulo, Brazil)

Lendvai, Nikoletta N; Tóth, Miklos M; Valkusz, Zsuzsanna Z; Bekő, Gabriella G; Szücs, Nikolette N; Csajbók, Eva E; Igaz, Péter P; Kriszt, Balázs B; Kovács, Balázs B; Rácz, Károly K; Patócs, Attila A

Publication Date: 2012

Variant appearance in text: SDHB: S163P

PubMed Link: 22584711

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prevalence of germline mutations in patients with pheochromocytoma or abdominal paraganglioma and sporadic presentation: a population-based study in Western Sweden.

World Journal Of Surgery

Muth, Andreas A; Abel, Frida F; Jansson, Svante S; Nilsson, Ola O; Ahlman, Håkan H; Wängberg, Bo B

Publication Date: 2012-06

Variant appearance in text: SDHB: Ser163Pro

PubMed Link: 22270996

Variant Present in the following documents:

• Main text

View BVdb publication page

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Germline SDHx variants modify breast and thyroid cancer risks in Cowden and Cowden-like syndrome via FAD/NAD-dependant destabilization of p53.

Human Molecular Genetics

Ni, Ying Y; He, Xin X; Chen, Jinlian J; Moline, Jessica J; Mester, Jessica J; Orloff, Mohammed S MS; Ringel, Matthew D MD; Eng, Charis C

Publication Date: 2012-01-15

Variant appearance in text: SDHB: 487T>C; Ser163Pro; rs33927012

PubMed Link: 21979946

Variant Present in the following documents:

• Main text
• ddr459.pdf

View BVdb publication page

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Succinate dehydrogenase gene variants and their role in Cowden syndrome.

American Journal Of Human Genetics

Bayley, Jean-Pierre JP

Publication Date: 2011-05-13

Variant appearance in text: SDHB: 487T>C; Ser163Pro; rs33927012

PubMed Link: 21565294

Variant Present in the following documents:

• Main text

View BVdb publication page

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An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis.

The Lancet. Oncology

van Nederveen, Francien H FH; Gaal, José J; Favier, Judith J; Korpershoek, Esther E; Oldenburg, Rogier A RA; de Bruyn, Elly M C A EM; Sleddens, Hein F B M HF; Derkx, Pieter P; Rivière, Julie J; Dannenberg, Hilde H; Petri, Bart-Jeroen BJ; Komminoth, Paul P; Pacak, Karel K; Hop, Wim C J WC; Pollard, Patrick J PJ; Mannelli, Massimo M; Bayley, Jean-Pierre JP; Perren, Aurel A; Niemann, Stephan S; Verhofstad, Albert A AA; de Bruïne, Adriaan P AP; Maher, Eamonn R ER; Tissier, Frédérique F; Méatchi, Tchao T; Badoual, Cécile C; Bertherat, Jérôme J; Amar, Laurence L; Alataki, Despoina D; Van Marck, Eric E; Ferrau, Francesco F; François, Jerney J; de Herder, Wouter W WW; Peeters, Mark-Paul F M Vrancken MP; van Linge, Anne A; Lenders, Jacques W M JW; Gimenez-Roqueplo, Anne-Paule AP; de Krijger, Ronald R RR; Dinjens, Winand N M WN

Publication Date: 2009-08

Variant appearance in text: SDHB: Ser163Pro

PubMed Link: 19576851

Variant Present in the following documents:

• Main text

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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: SDHB: Ser163Pro

PubMed Link: 19522823

Variant Present in the following documents:

• Main text

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Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes.

American Journal Of Human Genetics

Ni, Ying Y; Zbuk, Kevin M KM; Sadler, Tammy T; Patocs, Attila A; Lobo, Glenn G; Edelman, Emily E; Platzer, Petra P; Orloff, Mohammed S MS; Waite, Kristin A KA; Eng, Charis C

Publication Date: 2008-08

Variant appearance in text: SDHB: Ser163Pro

PubMed Link: 18678321

Variant Present in the following documents:

• Main text

View BVdb publication page

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