Publications:

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Molecular characterization of acquired resistance to KRAS G12C-EGFR inhibition in colorectal cancer.

Cancer Discovery

Yaeger, Rona R; Mezzadra, Riccardo R; Sinopoli, Jenna J; Bian, Yu Y; Marasco, Michelangelo M; Kaplun, Esther E; Gao, Yijun Y; Zhao, HuiYong H; Da Cruz Paula, Arnaud A; Zhu, Yingjie Y; Chaves Perez, Almudena A; Chadalavada, Kalyani K; Tse, Edison E; Chowdhry, Sudhir S; Bowker, Sydney S; Chang, Qing Q; Qeriqi, Besnik B; Weigelt, Britta B; Nanjangud, Gouri J GJ; Berger, Michael F MF; Der-Torossian, Hirak H; Anderes, Kenna K; Socci, Nicholas D ND; Shia, Jinru J; Riely, Gregory J GJ; Murciano-Goroff, Yonina R YR; Li, Bob T BT; Christensen, James G JG; Reis-Filho, Jorge S JS; Solit, David B DB; de Stanchina, Elisa E; Lowe, Scott W SW; Rosen, Neal N; Misale, Sandra S

Publication Date: 2022-11-10

Variant appearance in text: SDHD: H50R

PubMed Link: 36355783

Variant Present in the following documents:

• cd-22-0405_supplementary_figure_3_suppsf3.pdf

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: SDHD: H50R; rs11214077

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: SDHD: 149A>G

PubMed Link: 35938916

Variant Present in the following documents:

• Main text
• ERC-22-0157.pdf

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: SDHD: H50R; rs11214077

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 12

View BVdb publication page

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Cancer Comprehensive Analysis in Gastric Carcinoma: Benefits and New Perspectives.

Case Reports In Oncology

Pisanidou, Vasiliki V; Apostolou, Panagiotis P; Beis, Georgios G; Hatzidaki, Eleana E; Papasotiriou, Ioannis I

Publication Date: 2021

Variant appearance in text: SDHD: 149A>G; H50R

PubMed Link: 35082626

Variant Present in the following documents:

• Main text
• cro-0014-1682.pdf

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: SDHD: 149A>G; His50Arg

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: SDHD: 149A>G; His50Arg

PubMed Link: 34906457

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

View BVdb publication page

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Role of succinylation modification in thyroid cancer and breast cancer.

American Journal Of Cancer Research

Mu, Renmin R; Ma, Zhiyuan Z; Lu, Chengli C; Wang, Hu H; Cheng, Xiaoming X; Tuo, Biguang B; Fan, Yi Y; Liu, Xuemei X; Li, Taolang T

Publication Date: 2021

Variant appearance in text: SDHD: H50R

PubMed Link: 34765287

Variant Present in the following documents:

• Main text

View BVdb publication page

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Analytical Performance of NGS-Based Molecular Genetic Tests Used in the Diagnostic Workflow of Pheochromocytoma/Paraganglioma.

Cancers

Sarkadi, Balazs B; Liko, Istvan I; Nyiro, Gabor G; Igaz, Peter P; Butz, Henriett H; Patocs, Attila A

Publication Date: 2021-08-22

Variant appearance in text: SDHD: His50Arg

PubMed Link: 34439371

Variant Present in the following documents:

• Main text
• cancers-13-04219.pdf

View BVdb publication page

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Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

European Journal Of Human Genetics : Ejhg

Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T

Publication Date: 2021-08

Variant appearance in text: SDHD: 149A>G; His50Arg; rs11214077

PubMed Link: 33840814

Variant Present in the following documents:

• 41431_2021_878_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

European Journal Of Human Genetics : Ejhg

Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T

Publication Date: 2021-08

Variant appearance in text: SDHD: 149A>G; His50Arg; rs11214077

PubMed Link: 33840814

Variant Present in the following documents:

• 41431_2021_878_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.

Cancers

Sprissler, Ryan R; Perkins, Bryce B; Johnstone, Laurel L; Babiker, Hani M HM; Chalasani, Pavani P; Lau, Branden B; Hammer, Michael M; Mahadevan, Daruka D

Publication Date: 2020-06-18

Variant appearance in text: rs11214077

PubMed Link: 32570879

Variant Present in the following documents:

• Main text
• cancers-12-01618.pdf

View BVdb publication page

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Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.

Cancers

Pinheiro, Maisa M; Lupinacci, Fernanda Cristina Sulla FCS; Santiago, Karina Miranda KM; Drigo, Sandra Aparecida SA; Marchi, Fabio Albuquerque FA; Fonseca-Alves, Carlos Eduardo CE; Andrade, Sonia Cristina da Silva SCDS; Aagaard, Mads Malik MM; Basso, Tatiane Ramos TR; Dos Reis, Mariana Bisarro MB; Villacis, Rolando André Rios RAR; Roffé, Martin M; Hajj, Glaucia Noeli Maroso GNM; Jurisica, Igor I; Kowalski, Luiz Paulo LP; Achatz, Maria Isabel MI; Rogatto, Silvia Regina SR

Publication Date: 2020-05-20

Variant appearance in text: SDHD: 149A>G

PubMed Link: 32443704

Variant Present in the following documents:

• Main text
• cancers-12-01289.pdf

View BVdb publication page

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Mutational profile and genotype/phenotype correlation of non-familial pheochromocytoma and paraganglioma.

Oncotarget

Albattal, Shatha S; Alswailem, Meshael M; Moria, Yosra Y; Al-Hindi, Hindi H; Dasouki, Majed M; Abouelhoda, Mohamed M; Alkhail, Hala Aba HA; Alsuhaibani, Entissar E; Alzahrani, Ali S AS

Publication Date: 2019-10-15

Variant appearance in text: SDHD: H50R

PubMed Link: 31666924

Variant Present in the following documents:

• oncotarget-10-5919.pdf

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: SDHD: H50R; rs11214077

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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PTEN-opathies: from biological insights to evidence-based precision medicine.

The Journal Of Clinical Investigation

Yehia, Lamis L; Ngeow, Joanne J; Eng, Charis C

Publication Date: 2019-02-01

Variant appearance in text: SDHD: H50R

PubMed Link: 30614812

Variant Present in the following documents:

• Main text

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: SDHD: 149A>G

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: PGL: H50R

PubMed Link: 30050099

Variant Present in the following documents:

• nihms-1505462.pdf

View BVdb publication page

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Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications

Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M

Publication Date: 2018-02-15

Variant appearance in text: SDHD: H50R; rs11214077

PubMed Link: 29449575

Variant Present in the following documents:

• 41467_2017_2688_MOESM14_ESM.xls, sheet 3

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: SDHD: His50Arg

PubMed Link: 29386252

Variant Present in the following documents:

• Main text
• jmedgenet-2017-105127.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: 149A>G

PubMed Link: 28748451

Variant Present in the following documents:

• Main text

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: SDHD: His50Arg; rs11214077

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: SDHD: 149A>G; His50Arg

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: rs11214077

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: SDHD: H50R; rs11214077

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 9

View BVdb publication page

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Cowden syndrome-associated germline succinate dehydrogenase complex subunit D (SDHD) variants cause PTEN-mediated down-regulation of autophagy in thyroid cancer cells.

Human Molecular Genetics

Yu, Wanfeng W; Ni, Ying Y; Saji, Motoyasu M; Ringel, Matthew D MD; Jaini, Ritika R; Eng, Charis C

Publication Date: 2017-04-01

Variant appearance in text: SDHD: H50R

PubMed Link: 28164237

Variant Present in the following documents:

• Main text
• ddx037.pdf

View BVdb publication page

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Leptomeningeal dissemination of a low-grade lumbar paraganglioma: case report.

Journal Of Neurosurgery. Spine

Thomson, Nick N; Pacak, Karel K; Schmidt, Meic MH; Palmer, Cheryl CA; Salzman, Karen KL; Champine, Marjan M; Schiffman, Joshua JD; Cohen, Adam AL

Publication Date: 2017-04

Variant appearance in text: SDHD: 149A>G; H50R

PubMed Link: 28128698

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: SDHD: H50R; rs11214077

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: SDHD: His50Arg

PubMed Link: 27279923

Variant Present in the following documents:

• Main text
• 13053_2016_Article_53.pdf

View BVdb publication page

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Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.

Nature Communications

Merico, Daniele D; Roifman, Maian M; Braunschweig, Ulrich U; Yuen, Ryan K C RK; Alexandrova, Roumiana R; Bates, Andrea A; Reid, Brenda B; Nalpathamkalam, Thomas T; Wang, Zhuozhi Z; Thiruvahindrapuram, Bhooma B; Gray, Paul P; Kakakios, Alyson A; Peake, Jane J; Hogarth, Stephanie S; Manson, David D; Buncic, Raymond R; Pereira, Sergio L SL; Herbrick, Jo-Anne JA; Blencowe, Benjamin J BJ; Roifman, Chaim M CM; Scherer, Stephen W SW

Publication Date: 2015-11-02

Variant appearance in text: SDHD: H50R; rs11214077

PubMed Link: 26522830

Variant Present in the following documents:

• ncomms9718-s2.xlsx, sheet 4

View BVdb publication page

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Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer.

American Journal Of Human Genetics

Yehia, Lamis L; Niazi, Farshad F; Ni, Ying Y; Ngeow, Joanne J; Sankunny, Madhav M; Liu, Zhigang Z; Wei, Wei W; Mester, Jessica L JL; Keri, Ruth A RA; Zhang, Bin B; Eng, Charis C

Publication Date: 2015-11-05

Variant appearance in text: SDHD: 149A>G; His50Arg

PubMed Link: 26522472

Variant Present in the following documents:

• Main text

View BVdb publication page

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ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories.

Genome Medicine

Wang, Jinlian J; Liao, Jun J; Zhang, Jinglan J; Cheng, Wei-Yi WY; Hakenberg, Jörg J; Ma, Meng M; Webb, Bryn D BD; Ramasamudram-Chakravarthi, Rajasekar R; Karger, Lisa L; Mehta, Lakshmi L; Kornreich, Ruth R; Diaz, George A GA; Li, Shuyu S; Edelmann, Lisa L; Chen, Rong R

Publication Date: 2015-07-29

Variant appearance in text: SDHD: 149A>G; H50R

PubMed Link: 26338694

Variant Present in the following documents:

• 13073_2015_207_MOESM1_ESM.xlsx, sheet 5
• 13073_2015_207_MOESM1_ESM.xlsx, sheet 2

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: SDHD: H50R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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: SDHD: His50Arg; rs11214077

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: SDHD: H50R; rs11214077

PubMed Link: 25694510

Variant Present in the following documents:

• Main text
• ERC140537.pdf

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: SDHD: H50R; rs11214077

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: SDHD: 149A>G; His50Arg

PubMed Link: 25376524

Variant Present in the following documents:

• Main text

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Cowden syndrome-associated germline SDHD variants alter PTEN nuclear translocation through SRC-induced PTEN oxidation.

Human Molecular Genetics

Yu, Wanfeng W; He, Xin X; Ni, Ying Y; Ngeow, Joanne J; Eng, Charis C

Publication Date: 2015-01-01

Variant appearance in text: SDHD: H50R

PubMed Link: 25149476

Variant Present in the following documents:

• Main text
• supp_ddu425_ddu425supp.pdf
• ddu425.pdf

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The genetic landscape of gastrointestinal stromal tumor lacking KIT and PDGFRA mutations.

Endocrine

Boikos, Sosipatros A SA; Stratakis, Constantine A CA

Publication Date: 2014-11

Variant appearance in text: SDHD: H50R

PubMed Link: 25027296

Variant Present in the following documents:

• Main text

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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: SDHD: H50R; rs11214077

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: SDHD: H50R

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1

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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: rs11214077

PubMed Link: 24297550

Variant Present in the following documents:

• Main text

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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: SDHD: H50R

PubMed Link: 22584711

Variant Present in the following documents:

• Main text

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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: SDHD: 149A>G; rs11214077

PubMed Link: 21979946

Variant Present in the following documents:

• Main text
• ddr459.pdf

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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: SDHD: 149A>G; His50Arg; rs11214077

PubMed Link: 21565294

Variant Present in the following documents:

• Main text

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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: SDHD: His50Arg

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: SDHD: His50Arg

PubMed Link: 19522823

Variant Present in the following documents:

• Main text

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The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency.

Bmc Medical Genetics

Bayley, Jean-Pierre JP; Devilee, Peter P; Taschner, Peter E M PE

Publication Date: 2005-11-16

Variant appearance in text: SDHD: His50Arg

PubMed Link: 16288654

Variant Present in the following documents:

• Main text

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No evidence for involvement of SDHD in neuroblastoma pathogenesis.

Bmc Cancer

De Preter, Katleen K; Vandesompele, Jo J; Hoebeeck, Jasmien J; Vandenbroecke, Caroline C; Smet, Jöel J; Nuyts, Annick A; Laureys, Geneviève G; Combaret, Valérie V; Van Roy, Nadine N; Roels, Frank F; Van Coster, Rudy R; Praet, Marleen M; De Paepe, Anne A; Speleman, Frank F

Publication Date: 2004-08-24

Variant appearance in text: SDHD: H50R

PubMed Link: 15331017

Variant Present in the following documents:

• Main text
• 1471-2407-4-55.pdf

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