Publications:

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PIN1 and CDK1 cooperatively govern pVHL stability and suppressive functions.

Cell Death And Differentiation

Chen, Jiayi J; Li, Mei M; Liu, Yeqing Y; Guan, Tangming T; Yang, Xiao X; Wen, Yalei Y; Zhu, Yingjie Y; Xiao, Zeyu Z; Shen, Xiangchun X; Zhang, Haoxing H; Tang, Hui H; Liu, Tongzheng T

Publication Date: 2023-02-23

Variant appearance in text: VHL: P81S

PubMed Link: 36813923

Variant Present in the following documents:

• Main text
• 41418_2023_Article_1128.pdf

View BVdb publication page

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Hereditary Endocrine Tumor Registries.

Journal Of The Endocrine Society

Moore, Edwina C EC; Ioannou, Liane L; Ruseckaite, Rasa R; Serpell, Jonathan J; Ahern, Susannah S

Publication Date: 2023-01-06

Variant appearance in text: VHL: 241C>T; P81S

PubMed Link: 36632485

Variant Present in the following documents:

• bvac194.pdf

View BVdb publication page

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Developing a disease-specific annotation protocol for VHL gene curation using Hypothes.is.

Database : The Journal Of Biological Databases And Curation

Salehipour, Dena D; Farncombe, Kirsten M KM; Andric, Veronica V; Ansar, Safa S; Delong, Sean S; Li, Eric E; Macpherson, Samantha S; Ridd, Sarah S; Ritter, Deborah I DI; Thaxton, Courtney C; Kim, Raymond H RH

Publication Date: 2023-01-06

Variant appearance in text: VHL: 241C>T; P81S

PubMed Link: 36617168

Variant Present in the following documents:

• baac109.pdf

View BVdb publication page

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Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome.

Plos Genetics

Poll, Sarah R SR; Martin, Renan R; Wohler, Elizabeth E; Partan, Elizabeth S ES; Walek, Elizabeth E; Salman, Shaima S; Groepper, Daniel D; Kratz, Lisa L; Cernach, Mirlene M; Jesus-Garcia, Reynaldo R; Haldeman-Englert, Chad C; Choi, Yoon Jae YJ; Morris, Carol D CD; Cohen, Bernard B; Hoover-Fong, Julie J; Valle, David D; Semenza, Gregg L GL; Sobreira, Nara L M NLM

Publication Date: 2022-12-08

Variant appearance in text: VHL: Pro81Ser

PubMed Link: 36480544

Variant Present in the following documents:

• Main text
• pgen.1010504.pdf

View BVdb publication page

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Clinical Profile and Outcome of Patients Operated on for Renal Cell Carcinoma: Experience from a Tertiary Care Center in a Developing Country.

Research And Reports In Urology

Adem, Ramzi Yessuf RY; Hassen, Seid Mohammed SM; Abdulaziz, Mohammed M; Ahmed, Ahmed Ibrahim AI; Jemberie, Atinkut Mengesha AM; Gebeyehu, Yonatan Tedla YT; Sedeta, Assefa Mekonnen AM; Gebrehiwot, Fitsum Gebreegziabher FG; Abebe, Engida E; Berhe, Teklebirhan T

Publication Date: 2022

Variant appearance in text: VHL: P81S

PubMed Link: 36394071

Variant Present in the following documents:

• rru-14-389.pdf

View BVdb publication page

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Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications

Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX

Publication Date: 2022-06-15

Variant appearance in text: VHL: P81S

PubMed Link: 35705558

Variant Present in the following documents:

• 41467_2022_30496_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.

Frontiers In Genetics

Aguiar, Talita T; Teixeira, Anne A; Scliar, Marília O MO; Sobral de Barros, Juliana J; Lemes, Renan B RB; Souza, Silvia S; Tolezano, Giovanna G; Santos, Fernanda F; Tojal, Israel I; Cypriano, Monica M; Caminada de Toledo, Silvia Regina SR; Valadares, Eugênia E; Borges Pinto, Raquel R; Pinto Artigalas, Osvaldo Afonso OA; Caetano de Aguirre Neto, Joaquim J; Novak, Estela E; Cristofani, Lilian Maria LM; Miura Sugayama, Sofia M SM; Odone, Vicente V; Cunha, Isabela Werneck IW; Lima da Costa, Cecilia Maria CM; Rosenberg, Carla C; Krepischi, Ana A

Publication Date: 2022

Variant appearance in text: VHL: 241C>T; Pro81Ser

PubMed Link: 35495172

Variant Present in the following documents:

• Main text
• DataSheet1.xlsx, sheet 3

View BVdb publication page

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Large scale genotype- and phenotype-driven machine learning in Von Hippel-Lindau disease.

Human Mutation

Chiorean, Andreea A; Farncombe, Kirsten M KM; Delong, Sean S; Andric, Veronica V; Ansar, Safa S; Chan, Clarissa C; Clark, Kaitlin K; Danos, Arpad M AM; Gao, Yizhuo Y; Giles, Rachel H RH; Goldenberg, Anna A; Jani, Payal P; Krysiak, Kilannin K; Kujan, Lynzey L; Macpherson, Samantha S; Maher, Eamonn R ER; McCoy, Liam G LG; Salama, Yasser Y; Saliba, Jason J; Sheta, Lana L; Griffith, Malachi M; Griffith, Obi L OL; Erdman, Lauren L; Ramani, Arun A; Kim, Raymond H RH

Publication Date: 2022-09

Variant appearance in text: VHL: 241C>T; P81S

PubMed Link: 35475554

Variant Present in the following documents:

• HUMU-43-1268.pdf

View BVdb publication page

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Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

Cell Stem Cell

Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K

Publication Date: 2022-03-03

Variant appearance in text: VHL: 241C>T; Pro81Ser; rs104893829

PubMed Link: 35176222

Variant Present in the following documents:

• mmc5.xlsx, sheet 1
• mmc5.xlsx, sheet 3

View BVdb publication page

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Erythrocytosis associated with EPAS1(HIF2A), EGLN1(PHD2), VHL, EPOR or BPGM mutations: The Mayo Clinic experience.

Haematologica

Gangat, Naseema N; Oliveira, Jennifer L JL; Porter, Tavanna R TR; Hoyer, James D JD; Al-Kali, Aref A; Patnaik, Mrinal M MM; Pardanani, Animesh A; Tefferi, Ayalew A

Publication Date: 2022-05-01

Variant appearance in text: VHL: 241C>T; P81S

PubMed Link: 35142155

Variant Present in the following documents:

• 1071201.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: VHL: P81S; rs104893829

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 13

View BVdb publication page

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Kidney Cancer Risk Associated with Historic Groundwater Trichloroethylene Contamination.

International Journal Of Environmental Research And Public Health

Andrew, Angeline S AS; Li, Meifang M; Shi, Xun X; Rees, Judy R JR; Craver, Karen M KM; Petali, Jonathan M JM

Publication Date: 2022-01-06

Variant appearance in text: VHL: P81S

PubMed Link: 35055441

Variant Present in the following documents:

• Main text
• ijerph-19-00618.pdf

View BVdb publication page

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Kidney Cancer Risk Associated with Historic Groundwater Trichloroethylene Contamination.

International Journal Of Environmental Research And Public Health

Andrew, Angeline S AS; Li, Meifang M; Shi, Xun X; Rees, Judy R JR; Craver, Karen M KM; Petali, Jonathan M JM

Publication Date: 2022-01-06

Variant appearance in text: VHL: P81S

PubMed Link: 35055441

Variant Present in the following documents:

• Main text
• ijerph-19-00618.pdf

View BVdb publication page

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Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: VHL: P81S

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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Pheochromocytomas and paragangliomas in von Hippel-Lindau disease: not a needle in a haystack.

Endocrine Connections

Castro-Teles, João J; Sousa-Pinto, Bernardo B; Rebelo, Sandra S; Pignatelli, Duarte D

Publication Date: 2021-10-27

Variant appearance in text: VHL: P81S

PubMed Link: 34596579

Variant Present in the following documents:

• EC-21-0294.pdf

View BVdb publication page

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Identification of the TP53 p.R337H Variant in Tumor Genomic Profiling Should Prompt Consideration of Germline Testing for Li-Fraumeni Syndrome.

Jco Global Oncology

Sandoval, Renata Lazari RL; Masotti, Cibele C; de Macedo, Mariana Petaccia MP; Ribeiro, Maurício Fernando Silva Almeida MFSA; Leite, Ana Carolina Rathsam ACR; Meireles, Sibele Inacio SI; Bovolin, Rodrigo Medeiros RM; Santini, Fernando Costa FC; Munhoz, Rodrigo Ramella RR; Jardim, Denis Leonardo Fontes DLF; Katz, Artur A; Camargo, Anamaria Aranha AA; Fernandes, Gustavo Dos Santos GDS; Achatz, Maria Isabel MI

Publication Date: 2021-07

Variant appearance in text: VHL: P81S

PubMed Link: 34270331

Variant Present in the following documents:

• go-7-go.21.00097.pdf

View BVdb publication page

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Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer

Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA

Publication Date: 2021-05

Variant appearance in text: VHL: 241C>T; P81S

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

View BVdb publication page

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The VHL/HIF Axis in the Development and Treatment of Pheochromocytoma/Paraganglioma.

Frontiers In Endocrinology

Peng, Song S; Zhang, Jun J; Tan, Xintao X; Huang, Yiqiang Y; Xu, Jing J; Silk, Natalie N; Zhang, Dianzheng D; Liu, Qiuli Q; Jiang, Jun J

Publication Date: 2020

Variant appearance in text: VHL: P81S

PubMed Link: 33329393

Variant Present in the following documents:

• fendo-11-586857.pdf

View BVdb publication page

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Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine

Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS

Publication Date: 2021-01

Variant appearance in text: VHL: P81S

PubMed Link: 33314633

Variant Present in the following documents:

• CAM4-10-53-s002.xlsx, sheet 1

View BVdb publication page

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Targeted genomic analysis of cutaneous T cell lymphomas identifies a subset with aggressive clinicopathological features.

Blood Cancer Journal

Argyropoulos, Kimon V KV; Pulitzer, Melissa M; Maura, Francesco F; Mohanty, Abhinita A; Mondello, Patrizia P; Horwitz, Steven M SM; Myskowski, Patricia P; Moskowitz, Alison A; Dogan, Ahmet A; Querfeld, Christiane C; Rapaport, Franck F; Siakantaris, Marina M; Louis, Peter C PC; Galasso, Natasha N; van den Brink, Marcel R M MRM; Palomba, M Lia ML

Publication Date: 2020-11-09

Variant appearance in text: VHL: 241C>T; P81S

PubMed Link: 33168809

Variant Present in the following documents:

• 41408_2020_380_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Plasmacytoid dendritic cells proliferation associated with acute myeloid leukemia: phenotype profile and mutation landscape

Haematologica

Zalmaï, Loria L; Viailly, Pierre-Julien PJ; Biichle, Sabeha S; Cheok, Meyling M; Soret, Lou L; Angelot-Delettre, Fanny F; Petrella, Tony T; Collonge-Rame, Marie-Agnès MA; Seilles, Estelle E; Geffroy, Sandrine S; Deconinck, Eric E; Daguindau, Etienne E; Bouyer, Sabrina S; Dindinaud, Elodie E; Baunin, Victor V; Le Garff-Tavernier, Magali M; Roos-Weil, Damien D; Wagner-Ballon, Orianne O; Salaun, Véronique V; Feuillard, Jean J; Brun, Sophie S; Drenou, Bernard B; Mayeur-Rousse, Caroline C; Okamba, Patricia P; Dorvaux, Véronique V; Tichionni, Michel M; Rose, Johann J; Rubio, Marie Thérèse MT; Jacob, Marie Christine MC; Raggueneau, Victoria V; Preudhomme, Claude C; Saas, Philippe P; Ferrand, Christophe C; Adotevi, Olivier O; Roumier, Christophe C; Jardin, Fabrice F; Garnache-Ottou, Francine F; Renosi, Florian F

Publication Date: 2021-12-01

Variant appearance in text: VHL: PRO81SER

PubMed Link: 33054115

Variant Present in the following documents:

• 2020_253740_ZALMAI_SUPPL.pdf

View BVdb publication page

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Plasmacytoid dendritic cells proliferation associated with acute myeloid leukemia: phenotype profile and mutation landscape

Haematologica

Zalmaï, Loria L; Viailly, Pierre-Julien PJ; Biichle, Sabeha S; Cheok, Meyling M; Soret, Lou L; Angelot-Delettre, Fanny F; Petrella, Tony T; Collonge-Rame, Marie-Agnès MA; Seilles, Estelle E; Geffroy, Sandrine S; Deconinck, Eric E; Daguindau, Etienne E; Bouyer, Sabrina S; Dindinaud, Elodie E; Baunin, Victor V; Le Garff-Tavernier, Magali M; Roos-Weil, Damien D; Wagner-Ballon, Orianne O; Salaun, Véronique V; Feuillard, Jean J; Brun, Sophie S; Drenou, Bernard B; Mayeur-Rousse, Caroline C; Okamba, Patricia P; Dorvaux, Véronique V; Tichionni, Michel M; Rose, Johann J; Rubio, Marie Thérèse MT; Jacob, Marie Christine MC; Raggueneau, Victoria V; Preudhomme, Claude C; Saas, Philippe P; Ferrand, Christophe C; Adotevi, Olivier O; Roumier, Christophe C; Jardin, Fabrice F; Garnache-Ottou, Francine F; Renosi, Florian F

Publication Date: 2021-12-01

Variant appearance in text: VHL: PRO81SER

PubMed Link: 33054115

Variant Present in the following documents:

• 2020_253740_ZALMAI_SUPPL.pdf

View BVdb publication page

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Patient specific circulating tumor DNA fingerprints to monitor treatment response across multiple tumors.

Journal Of Translational Medicine

Li, Jiaping J; Jiang, Wei W; Wei, Jinwang J; Zhang, Jianwei J; Cai, Linbo L; Luo, Minjie M; Wang, Zhan Z; Sun, Wending W; Wang, Shengzhou S; Wang, Chen C; Dai, Chun C; Liu, Jun J; Wang, Guan G; Wang, Jiping J; Xu, Qiang Q; Deng, Yanhong Y

Publication Date: 2020-08-01

Variant appearance in text: VHL: 241C>T; P81S

PubMed Link: 32738923

Variant Present in the following documents:

• 12967_2020_2449_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: VHL: P81S

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

View BVdb publication page

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PRODIGY: personalized prioritization of driver genes.

Bioinformatics (Oxford, England)

Dinstag, Gal G; Shamir, Ron R

Publication Date: 2020-03-01

Variant appearance in text: VHL: P81S

PubMed Link: 31681944

Variant Present in the following documents:

• btz815.pdf

View BVdb publication page

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TAPES: A tool for assessment and prioritisation in exome studies.

Plos Computational Biology

Xavier, Alexandre A; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA

Publication Date: 2019-10

Variant appearance in text: VHL: P81S; rs104893829

PubMed Link: 31613886

Variant Present in the following documents:

• pcbi.1007453.s004.xlsx, sheet 7
• pcbi.1007453.s002.xlsx, sheet 1
• pcbi.1007453.s004.xlsx, sheet 2

View BVdb publication page

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Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications

Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H

Publication Date: 2019-09-12

Variant appearance in text: VHL: 241C>T; P81S

PubMed Link: 31515488

Variant Present in the following documents:

• 41467_2019_11959_MOESM11_ESM.xlsx, sheet 1

View BVdb publication page

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Clinical utility of custom-designed NGS panel testing in pediatric tumors.

Genome Medicine

Surrey, Lea F LF; MacFarland, Suzanne P SP; Chang, Fengqi F; Cao, Kajia K; Rathi, Komal S KS; Akgumus, Gozde T GT; Gallo, Daniel D; Lin, Fumin F; Gleason, Adam A; Raman, Pichai P; Aplenc, Richard R; Bagatell, Rochelle R; Minturn, Jane J; Mosse, Yael Y; Santi, Mariarita M; Tasian, Sarah K SK; Waanders, Angela J AJ; Sarmady, Mahdi M; Maris, John M JM; Hunger, Stephen P SP; Li, Marilyn M MM

Publication Date: 2019-05-28

Variant appearance in text: VHL: 241C>T; P81S

PubMed Link: 31133068

Variant Present in the following documents:

• 13073_2019_644_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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The incidence of consecutive manifestations in Von Hippel-Lindau disease.

Familial Cancer

van der Horst-Schrivers, Anouk N A ANA; Sluiter, Wim J WJ; Kruizinga, Roeliene C RC; van Leeuwaarde, Rachel S RS; Giles, Rachel R; Olderode-Berends, Maran J W MJW; Links, Thera P TP

Publication Date: 2019-07

Variant appearance in text: VHL: 241C>T

PubMed Link: 31087189

Variant Present in the following documents:

• Main text
• 10689_2019_Article_131.pdf

View BVdb publication page

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Genotype-phenotype relations of the von Hippel-Lindau tumor suppressor inferred from a large-scale analysis of disease mutations and interactors.

Plos Computational Biology

Minervini, Giovanni G; Quaglia, Federica F; Tabaro, Francesco F; Tosatto, Silvio C E SCE

Publication Date: 2019-04

Variant appearance in text: VHL: Pro81Ser

PubMed Link: 30943211

Variant Present in the following documents:

• Main text
• pcbi.1006478.s009.xlsx, sheet 1

View BVdb publication page

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Long-Term Combinatorial Exposure to Trichloroethylene and Inorganic Arsenic in Genetically Heterogeneous Mice Results in Renal Tubular Damage and Cancer-Associated Molecular Changes.

G3 (Bethesda, Md.)

Perry, Amie A; Lynch, Rachel M RM; Rusyn, Ivan I; Threadgill, David W DW

Publication Date: 2019-05-07

Variant appearance in text: VHL: P81S

PubMed Link: 30898898

Variant Present in the following documents:

• 1729.pdf

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: VHL: 241C>T; Pro81Ser

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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Distinct age-associated molecular profiles in acute myeloid leukemia defined by comprehensive clinical genomic profiling.

Oncotarget

Tarlock, Katherine K; Zhong, Shan S; He, Yuting Y; Ries, Rhonda R; Severson, Eric E; Bailey, Mark M; Morley, Samantha S; Balasubramanian, Sohail S; Erlich, Rachel R; Lipson, Doron D; Otto, Geoff A GA; Vergillo, Jo-Anne JA; Kolb, E Anders EA; Ross, Jeffrey S JS; Mughal, Tariq T; Stephens, Philip J PJ; Miller, Vincent V; Meshinchi, Soheil S; He, Jie J

Publication Date: 2018-05-29

Variant appearance in text: VHL: 241C>T; P81S

PubMed Link: 29899868

Variant Present in the following documents:

• oncotarget-09-26417-s005.xlsx, sheet 1

View BVdb publication page

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Novel genotype-phenotype correlations in five Chinese families with Von Hippel-Lindau disease.

Endocrine Connections

Liu, Qiuli Q; Yuan, Gang G; Tong, Dali D; Liu, Gaolei G; Yi, Yuting Y; Zhang, Jun J; Zhang, Yao Y; Wang, Lin-Ang LA; Wang, Luofu L; Zhang, Dianzheng D; Chen, Rongrong R; Guan, Yanfang Y; Yi, Xin X; Lan, Weihua W; Jiang, Jun J

Publication Date: 2018-07

Variant appearance in text: VHL: P81S

PubMed Link: 29871882

Variant Present in the following documents:

• Main text
• ec-7-870.pdf

View BVdb publication page

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A computational approach to distinguish somatic vs. germline origin of genomic alterations from deep sequencing of cancer specimens without a matched normal.

Plos Computational Biology

Sun, James X JX; He, Yuting Y; Sanford, Eric E; Montesion, Meagan M; Frampton, Garrett M GM; Vignot, Stéphane S; Soria, Jean-Charles JC; Ross, Jeffrey S JS; Miller, Vincent A VA; Stephens, Phil J PJ; Lipson, Doron D; Yelensky, Roman R

Publication Date: 2018-02

Variant appearance in text: rs104893829

PubMed Link: 29415044

Variant Present in the following documents:

• pcbi.1005965.s007.pdf

View BVdb publication page

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Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project.

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

Robbe, Pauline P; Popitsch, Niko N; Knight, Samantha J L SJL; Antoniou, Pavlos P; Becq, Jennifer J; He, Miao M; Kanapin, Alexander A; Samsonova, Anastasia A; Vavoulis, Dimitrios V DV; Ross, Mark T MT; Kingsbury, Zoya Z; Cabes, Maite M; Ramos, Sara D C SDC; Page, Suzanne S; Dreau, Helene H; Ridout, Kate K; Jones, Louise J LJ; Tuff-Lacey, Alice A; Henderson, Shirley S; Mason, Joanne J; Buffa, Francesca M FM; Verrill, Clare C; Maldonado-Perez, David D; Roxanis, Ioannis I; Collantes, Elena E; Browning, Lisa L; Dhar, Sunanda S; Damato, Stephen S; Davies, Susan S; Caulfield, Mark M; Bentley, David R DR; Taylor, Jenny C JC; Turnbull, Clare C; Schuh, Anna A; ,

Publication Date: 2018-10

Variant appearance in text: VHL: 241C>T

PubMed Link: 29388947

Variant Present in the following documents:

• EMS82826-supplement-3.xlsx, sheet 11

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Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications

Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ

Publication Date: 2017-08-04

Variant appearance in text: VHL: 241C>T; P81S

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.xlsx, sheet 1

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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: VHL: 241C>T; Pro81Ser

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Human mutations in integrator complex subunits link transcriptome integrity to brain development.

Plos Genetics

Oegema, Renske R; Baillat, David D; Schot, Rachel R; van Unen, Leontine M LM; Brooks, Alice A; Kia, Sima Kheradmand SK; Hoogeboom, A Jeannette M AJM; Xia, Zheng Z; Li, Wei W; Cesaroni, Matteo M; Lequin, Maarten H MH; van Slegtenhorst, Marjon M; Dobyns, William B WB; de Coo, Irenaeus F M IFM; Verheijen, Frans W FW; Kremer, Andreas A; van der Spek, Peter J PJ; Heijsman, Daphne D; Wagner, Eric J EJ; Fornerod, Maarten M; Mancini, Grazia M S GMS

Publication Date: 2017-05

Variant appearance in text: VHL: P81S

PubMed Link: 28542170

Variant Present in the following documents:

• pgen.1006809.s013.xlsx, sheet 1

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Management of Gene Variants of Unknown Significance: Analysis Method and Risk Assessment of the VHL Mutation p.P81S (c.241C>T).

Current Genomics

Alosi, Daniela D; Bisgaard, Marie Luise ML; Hemmingsen, Sophie Nowak SN; Krogh, Lotte Nylandsted LN; Mikkelsen, Hanne Birte HB; Binderup, Marie Louise Mølgaard MLM

Publication Date: 2017-02

Variant appearance in text: VHL: 241C>T; P81S

PubMed Link: 28503092

Variant Present in the following documents:

• Main text
• CG-18-93_SD1.pdf
• CG-18-93.pdf

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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: VHL: P81S; rs104893829

PubMed Link: 27930734

Variant Present in the following documents:

• pone.0167847.s002.xls, sheet 1

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Characterization of VHL missense mutations in sporadic clear cell renal cell carcinoma: hotspots, affected binding domains, functional impact on pVHL and therapeutic relevance.

Bmc Cancer

Razafinjatovo, Caroline C; Bihr, Svenja S; Mischo, Axel A; Vogl, Ursula U; Schmidinger, Manuela M; Moch, Holger H; Schraml, Peter P

Publication Date: 2016-08-17

Variant appearance in text: VHL: P81S

PubMed Link: 27530247

Variant Present in the following documents:

• 12885_2016_Article_2688.pdf

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Recurrent lobular capillary hemangiomas in a patient with neurofibromatosis type 1 (NF1) and von Hippel-Lindau syndrome (VHL).

Jaad Case Reports

Haitz, Karyn K; Mikailov, Anar A; Foreman, Ruth R; Zimarowski, Mary Jane MJ; Seo, Su-Jean SJ

Publication Date: 2015-11

Variant appearance in text: VHL: P81S

PubMed Link: 27051783

Variant Present in the following documents:

• Main text
• main.pdf

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Targeted Next Generation Sequencing as a Reliable Diagnostic Assay for the Detection of Somatic Mutations in Tumours Using Minimal DNA Amounts from Formalin Fixed Paraffin Embedded Material.

Plos One

de Leng, Wendy W J WW; Gadellaa-van Hooijdonk, Christa G CG; Barendregt-Smouter, Françoise A S FA; Koudijs, Marco J MJ; Nijman, Ies I; Hinrichs, John W J JW; Cuppen, Edwin E; van Lieshout, Stef S; Loberg, Robert D RD; de Jonge, Maja M; Voest, Emile E EE; de Weger, Roel A RA; Steeghs, Neeltje N; Langenberg, Marlies H G MH; Sleijfer, Stefan S; Willems, Stefan M SM; Lolkema, Martijn P MP

Publication Date: 2016

Variant appearance in text: VHL: P81S

PubMed Link: 26919633

Variant Present in the following documents:

• pone.0149405.s010.xlsx, sheet 1

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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: VHL: P81S

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: VHL: P81S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM2_ESM.xls, sheet 1
• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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Profiling of somatic mutations in phaeochromocytoma and paraganglioma by targeted next generation sequencing analysis.

International Journal Of Endocrinology

Luchetti, Andrea A; Walsh, Diana D; Rodger, Fay F; Clark, Graeme G; Martin, Tom T; Irving, Richard R; Sanna, Mario M; Yao, Masahiro M; Robledo, Mercedes M; Neumann, Hartmut P H HP; Woodward, Emma R ER; Latif, Farida F; Abbs, Stephen S; Martin, Howard H; Maher, Eamonn R ER

Publication Date: 2015

Variant appearance in text: VHL: 241C>T

PubMed Link: 25883647

Variant Present in the following documents:

• Main text
• IJE2015-138573.pdf

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Comparative analysis of the relationship between trichloroethylene metabolism and tissue-specific toxicity among inbred mouse strains: kidney effects.

Journal Of Toxicology And Environmental Health. Part A

Yoo, Hong Sik HS; Bradford, Blair U BU; Kosyk, Oksana O; Uehara, Takeki T; Shymonyak, Svitlana S; Collins, Leonard B LB; Bodnar, Wanda M WM; Ball, Louise M LM; Gold, Avram A; Rusyn, Ivan I

Publication Date: 2015

Variant appearance in text: VHL: P81S

PubMed Link: 25424545

Variant Present in the following documents:

• Main text

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A probabilistic model to predict clinical phenotypic traits from genome sequencing.

Plos Computational Biology

Chen, Yun-Ching YC; Douville, Christopher C; Wang, Cheng C; Niknafs, Noushin N; Yeo, Grace G; Beleva-Guthrie, Violeta V; Carter, Hannah H; Stenson, Peter D PD; Cooper, David N DN; Li, Biao B; Mooney, Sean S; Karchin, Rachel R

Publication Date: 2014-09

Variant appearance in text: VHL: P81S

PubMed Link: 25188385

Variant Present in the following documents:

• pcbi.1003825.s014.xlsx, sheet 1

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Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

The Journal Of Molecular Diagnostics : Jmd

MacConaill, Laura E LE; Garcia, Elizabeth E; Shivdasani, Priyanka P; Ducar, Matthew M; Adusumilli, Ravali R; Breneiser, Marc M; Byrne, Mark M; Chung, Lawrence L; Conneely, Jodie J; Crosby, Lauren L; Garraway, Levi A LA; Gong, Xin X; Hahn, William C WC; Hatton, Charlie C; Kantoff, Philip W PW; Kluk, Michael M; Kuo, Frank F; Jia, Yonghui Y; Joshi, Ruchi R; Longtine, Janina J; Manning, Allison A; Palescandolo, Emanuele E; Sharaf, Nematullah N; Sholl, Lynette L; van Hummelen, Paul P; Wade, Jacqueline J; Wollinson, Bruce M BM; Zepf, Dimity D; Rollins, Barrett J BJ; Lindeman, Neal I NI

Publication Date: 2014-11

Variant appearance in text: VHL: P81S

PubMed Link: 25157968

Variant Present in the following documents:

• Main text

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Targeted ultra-deep sequencing reveals recurrent and mutually exclusive mutations of cancer genes in blastic plasmacytoid dendritic cell neoplasm.

Oncotarget

Stenzinger, Albrecht A; Endris, Volker V; Pfarr, Nicole N; Andrulis, Mindaugas M; Jöhrens, Korinna K; Klauschen, Frederick F; Siebolts, Udo U; Wolf, Thomas T; Koch, Philipp-Sebastian PS; Schulz, Miriam M; Hartschuh, Wolfgang W; Goerdt, Sergij S; Lennerz, Jochen K JK; Wickenhauser, Claudia C; Klapper, Wolfram W; Anagnostopoulos, Ioannis I; Weichert, Wilko W

Publication Date: 2014-08-15

Variant appearance in text: VHL: Pro81Ser

PubMed Link: 25115387

Variant Present in the following documents:

• oncotarget-05-6404-s001.xlsx, sheet 1

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An integrated computational approach can classify VHL missense mutations according to risk of clear cell renal carcinoma.

Human Molecular Genetics

Gossage, Lucy L; Pires, Douglas E V DE; Olivera-Nappa, Álvaro Á; Asenjo, Juan J; Bycroft, Mark M; Blundell, Tom L TL; Eisen, Tim T

Publication Date: 2014-11-15

Variant appearance in text: VHL: P81S

PubMed Link: 24969085

Variant Present in the following documents:

• Main text
• supp_ddu321_ddu321supp_table.xlsx, sheet 2
• ddu321.pdf

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Pleiotropic effects of the trichloroethylene-associated P81S VHL mutation on metabolism, apoptosis, and ATM-mediated DNA damage response.

Journal Of The National Cancer Institute

Desimone, Michelle C MC; Rathmell, W Kimryn WK; Threadgill, David W DW

Publication Date: 2013-09-18

Variant appearance in text: VHL: P81S

PubMed Link: 23990666

Variant Present in the following documents:

• Main text
• djt226.pdf

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New insights into von Hippel-Lindau function highlighted by investigation of the trichloroethylene-induced p.P81S hotspot mutation.

Journal Of The National Cancer Institute

Neckers, Len L; Ricketts, Christopher J CJ; Marston Linehan, W W

Publication Date: 2013-09-18

Variant appearance in text: VHL: P81S

PubMed Link: 23990664

Variant Present in the following documents:

• Main text

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: VHL: P81S

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 1

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Tumor suppressors status in cancer cell line Encyclopedia.

Molecular Oncology

Sonkin, Dmitriy D; Hassan, Mehedi M; Murphy, Denis J DJ; Tatarinova, Tatiana V TV

Publication Date: 2013-08

Variant appearance in text: VHL: P81S

PubMed Link: 23639312

Variant Present in the following documents:

• Main text

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The genetic landscape of high-risk neuroblastoma.

Nature Genetics

Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM

Publication Date: 2013-03

Variant appearance in text: VHL: 241C>T; P81S; rs104893829

PubMed Link: 23334666

Variant Present in the following documents:

• NIHMS474900-supplement-8.xlsx, sheet 1

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The Cancer Cell Line Encyclopedia enables predictive modelling of anticancer drug sensitivity.

Nature

Barretina, Jordi J; Caponigro, Giordano G; Stransky, Nicolas N; Venkatesan, Kavitha K; Margolin, Adam A AA; Kim, Sungjoon S; Wilson, Christopher J CJ; Lehár, Joseph J; Kryukov, Gregory V GV; Sonkin, Dmitriy D; Reddy, Anupama A; Liu, Manway M; Murray, Lauren L; Berger, Michael F MF; Monahan, John E JE; Morais, Paula P; Meltzer, Jodi J; Korejwa, Adam A; Jané-Valbuena, Judit J; Mapa, Felipa A FA; Thibault, Joseph J; Bric-Furlong, Eva E; Raman, Pichai P; Shipway, Aaron A; Engels, Ingo H IH; Cheng, Jill J; Yu, Guoying K GK; Yu, Jianjun J; Aspesi, Peter P; de Silva, Melanie M; Jagtap, Kalpana K; Jones, Michael D MD; Wang, Li L; Hatton, Charles C; Palescandolo, Emanuele E; Gupta, Supriya S; Mahan, Scott S; Sougnez, Carrie C; Onofrio, Robert C RC; Liefeld, Ted T; MacConaill, Laura L; Winckler, Wendy W; Reich, Michael M; Li, Nanxin N; Mesirov, Jill P JP; Gabriel, Stacey B SB; Getz, Gad G; Ardlie, Kristin K; Chan, Vivien V; Myer, Vic E VE; Weber, Barbara L BL; Porter, Jeff J; Warmuth, Markus M; Finan, Peter P; Harris, Jennifer L JL; Meyerson, Matthew M; Golub, Todd R TR; Morrissey, Michael P MP; Sellers, William R WR; Schlegel, Robert R; Garraway, Levi A LA

Publication Date: 2012-03-28

Variant appearance in text: VHL: 241C>T; P81S

PubMed Link: 22460905

Variant Present in the following documents:

• NIHMS361223-supplement-4.xlsx, sheet 3

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The interaction of the von Hippel-Lindau tumor suppressor and heterochromatin protein 1.

Archives Of Biochemistry And Biophysics

Lai, Yanlai Y; Song, Meihua M; Hakala, Kevin K; Weintraub, Susan T ST; Shiio, Yuzuru Y

Publication Date: 2012-02-15

Variant appearance in text: VHL: P81S

PubMed Link: 22234250

Variant Present in the following documents:

• Main text

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RAS mutations are associated with the development of cutaneous squamous cell tumors in patients treated with RAF inhibitors.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Oberholzer, Patrick A PA; Kee, Damien D; Dziunycz, Piotr P; Sucker, Antje A; Kamsukom, Nyam N; Jones, Robert R; Roden, Christine C; Chalk, Clinton J CJ; Ardlie, Kristin K; Palescandolo, Emanuele E; Piris, Adriano A; MacConaill, Laura E LE; Robert, Caroline C; Hofbauer, Günther F L GF; McArthur, Grant A GA; Schadendorf, Dirk D; Garraway, Levi A LA

Publication Date: 2012-01-20

Variant appearance in text: VHL: P81S

PubMed Link: 22067401

Variant Present in the following documents:

• Main text

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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: VHL: P81S

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

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Determination of angptl4 mRNA as a diagnostic marker of primary and metastatic clear cell renal-cell carcinoma.

Plos One

Verine, Jérôme J; Lehmann-Che, Jacqueline J; Soliman, Hany H; Feugeas, Jean-Paul JP; Vidal, Jean-Sébastien JS; Mongiat-Artus, Pierre P; Belhadj, Stéphanie S; Philippe, Josette J; Lesage, Matthieu M; Wittmer, Evelyne E; Chanel, Stéphane S; Couvelard, Anne A; Ferlicot, Sophie S; Rioux-Leclercq, Nathalie N; Vignaud, Jean-Michel JM; Janin, Anne A; Germain, Stéphane S

Publication Date: 2010-04-29

Variant appearance in text: VHL: 241C>T; Pro81Ser

PubMed Link: 20454689

Variant Present in the following documents:

• Main text

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