Publications:

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Altered cytoplasmic and nuclear ADP-ribosylation levels analyzed with an improved ADP-ribose binder are a prognostic factor in renal cell carcinoma.

The Journal Of Pathology. Clinical Research

Schraml, Peter P; Aimi, Fabio F; Zoche, Martin M; Aguilera-Garcia, Domingo D; Arnold, Fabian F; Moch, Holger H; Hottiger, Michael O MO

Publication Date: 2023-03-31

Variant appearance in text: VHL: Q164*

PubMed Link: 36999983

Variant Present in the following documents:

• CJP2-9-273-s001.xlsx, sheet 23

View BVdb publication page

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Recapitulating thyroid cancer histotypes through engineering embryonic stem cells.

Nature Communications

Veschi, Veronica V; Turdo, Alice A; Modica, Chiara C; Verona, Francesco F; Di Franco, Simone S; Gaggianesi, Miriam M; Tirrò, Elena E; Di Bella, Sebastiano S; Iacono, Melania Lo ML; Pantina, Vincenzo Davide VD; Porcelli, Gaetana G; Mangiapane, Laura Rosa LR; Bianca, Paola P; Rizzo, Aroldo A; Sciacca, Elisabetta E; Pillitteri, Irene I; Vella, Veronica V; Belfiore, Antonino A; Bongiorno, Maria Rita MR; Pistone, Giuseppe G; Memeo, Lorenzo L; Colarossi, Lorenzo L; Giuffrida, Dario D; Colarossi, Cristina C; Vigneri, Paolo P; Todaro, Matilde M; Stassi, Giorgio G

Publication Date: 2023-03-11

Variant appearance in text: VHL: 490C>T; Gln164Ter

PubMed Link: 36906579

Variant Present in the following documents:

• 41467_2023_36922_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: VHL: 490C>T; Gln164Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Application of Genomic Sequencing to Refine Patient Stratification for Adjuvant Therapy in Renal Cell Carcinoma.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Vasudev, Naveen S NS; Scelo, Ghislaine G; Glennon, Kate I KI; Wilson, Michelle M; Letourneau, Louis L; Eveleigh, Robert R; Nourbehesht, Nazanin N; Arseneault, Madeleine M; Paccard, Antoine A; Egevad, Lars L; Viksna, Juris J; Celms, Edgars E; Jackson, Sharon M SM; Abedi-Ardekani, Behnoush B; Warren, Anne Y AY; Selby, Peter J PJ; Trainor, Sebastian S; Kimuli, Michael M; Cartledge, Jon J; Soomro, Naeem N; Adeyoju, Adebanji A; Patel, Poulam M PM; Wozniak, Magdalena B MB; Holcatova, Ivana I; Brisuda, Antonin A; Janout, Vladimir V; Chanudet, Estelle E; Zaridze, David D; Moukeria, Anush A; Shangina, Oxana O; Foretova, Lenka L; Navratilova, Marie M; Mates, Dana D; Jinga, Viorel V; Bogdanovic, Ljiljana L; Kovacevic, Bozidar B; Cambon-Thomsen, Anne A; Bourque, Guillaume G; Brazma, Alvis A; Tost, Jörg J; Brennan, Paul P; Lathrop, Mark M; Riazalhosseini, Yasser Y; Banks, Rosamonde E RE

Publication Date: 2023-02-23

Variant appearance in text: VHL: 490C>T; Gln164*; rs5030819

PubMed Link: 36815791

Variant Present in the following documents:

• ccr-22-1936_supplementary_table_s2_suppts2.xlsx, sheet 1

View BVdb publication page

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Integrative single-cell analysis reveals transcriptional and epigenetic regulatory features of clear cell renal cell carcinoma.

Cancer Research

Yu, Zhenyuan Z; Lv, Yufang Y; Su, Cheng C; Lu, Wenhao W; Zhang, RuiRui R; Li, Jiaping J; Guo, Bingqian B; Yan, Haibiao H; Liu, Deyun D; Yang, Zhanbin Z; Mi, Hua H; Mo, Linjian L; Guo, Yi Y; Feng, Wenyu W; Xu, Haotian H; Peng, Wenyi W; Cheng, Jiwen J; Nan, Aruo A; Mo, Zengnan Z

Publication Date: 2023-01-06

Variant appearance in text: VHL: Q164X; rs5030819

PubMed Link: 36607615

Variant Present in the following documents:

• can-22-2224_table_s8_suppst8.xlsx, sheet 7

View BVdb publication page

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Identification of a VHL gene mutation in atypical Von Hippel-Lindau syndrome: genotype-phenotype correlation and gene therapy perspective.

Cancer Cell International

Tong, Dali D; Zhang, Yao Y; Jiang, Jun J; Bi, Gang G

Publication Date: 2021-12-19

Variant appearance in text: VHL: 490C>T

PubMed Link: 34923986

Variant Present in the following documents:

• 12935_2021_Article_2386.pdf

View BVdb publication page

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Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology

Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y

Publication Date: 2021-04-01

Variant appearance in text: VHL: Q164X; rs5030819

PubMed Link: 33795819

Variant Present in the following documents:

• 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1

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: 490C>T; Q164*

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: VHL: 490C>T; Q164*

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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Molecular correlates and therapeutic targets in T cell-inflamed versus non-T cell-inflamed tumors across cancer types.

Genome Medicine

Bao, Riyue R; Stapor, Daniel D; Luke, Jason J JJ

Publication Date: 2020-10-27

Variant appearance in text: VHL: Q164*

PubMed Link: 33106165

Variant Present in the following documents:

• 13073_2020_787_MOESM1_ESM.xlsx, sheet 9

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: 490C>T; Q164*

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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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: VHL: Q164*

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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

Communications Biology

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

Publication Date: 2020-01-07

Variant appearance in text: VHL: 490C>T; Q164*

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature

Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E

Publication Date: 2019-11

Variant appearance in text: VHL: Gln164*

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Deterministic Evolutionary Trajectories Influence Primary Tumor Growth: TRACERx Renal.

Cell

Turajlic, Samra S; Xu, Hang H; Litchfield, Kevin K; Rowan, Andrew A; Horswell, Stuart S; Chambers, Tim T; O'Brien, Tim T; Lopez, Jose I JI; Watkins, Thomas B K TBK; Nicol, David D; Stares, Mark M; Challacombe, Ben B; Hazell, Steve S; Chandra, Ashish A; Mitchell, Thomas J TJ; Au, Lewis L; Eichler-Jonsson, Claudia C; Jabbar, Faiz F; Soultati, Aspasia A; Chowdhury, Simon S; Rudman, Sarah S; Lynch, Joanna J; Fernando, Archana A; Stamp, Gordon G; Nye, Emma E; Stewart, Aengus A; Xing, Wei W; Smith, Jonathan C JC; Escudero, Mickael M; Huffman, Adam A; Matthews, Nik N; Elgar, Greg G; Phillimore, Ben B; Costa, Marta M; Begum, Sharmin S; Ward, Sophia S; Salm, Max M; Boeing, Stefan S; Fisher, Rosalie R; Spain, Lavinia L; Navas, Carolina C; Grönroos, Eva E; Hobor, Sebastijan S; Sharma, Sarkhara S; Aurangzeb, Ismaeel I; Lall, Sharanpreet S; Polson, Alexander A; Varia, Mary M; Horsfield, Catherine C; Fotiadis, Nicos N; Pickering, Lisa L; Schwarz, Roland F RF; Silva, Bruno B; Herrero, Javier J; Luscombe, Nick M NM; Jamal-Hanjani, Mariam M; Rosenthal, Rachel R; Birkbak, Nicolai J NJ; Wilson, Gareth A GA; Pipek, Orsolya O; Ribli, Dezso D; Krzystanek, Marcin M; Csabai, Istvan I; Szallasi, Zoltan Z; Gore, Martin M; McGranahan, Nicholas N; Van Loo, Peter P; Campbell, Peter P; Larkin, James J; Swanton, Charles C; ,

Publication Date: 2018-04-19

Variant appearance in text: VHL: Q164X

PubMed Link: 29656894

Variant Present in the following documents:

• mmc2.xlsx, sheet 3

View BVdb publication page

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The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma.

Cell Reports

Ricketts, Christopher J CJ; De Cubas, Aguirre A AA; Fan, Huihui H; Smith, Christof C CC; Lang, Martin M; Reznik, Ed E; Bowlby, Reanne R; Gibb, Ewan A EA; Akbani, Rehan R; Beroukhim, Rameen R; Bottaro, Donald P DP; Choueiri, Toni K TK; Gibbs, Richard A RA; Godwin, Andrew K AK; Haake, Scott S; Hakimi, A Ari AA; Henske, Elizabeth P EP; Hsieh, James J JJ; Ho, Thai H TH; Kanchi, Rupa S RS; Krishnan, Bhavani B; Kwiatkowski, David J DJ; Lui, Wembin W; Merino, Maria J MJ; Mills, Gordon B GB; Myers, Jerome J; Nickerson, Michael L ML; Reuter, Victor E VE; Schmidt, Laura S LS; Shelley, C Simon CS; Shen, Hui H; Shuch, Brian B; Signoretti, Sabina S; Srinivasan, Ramaprasad R; Tamboli, Pheroze P; Thomas, George G; Vincent, Benjamin G BG; Vocke, Cathy D CD; Wheeler, David A DA; Yang, Lixing L; Kim, William Y WY; Robertson, A Gordon AG; , ; Spellman, Paul T PT; Rathmell, W Kimryn WK; Linehan, W Marston WM

Publication Date: 2018-04-03

Variant appearance in text: VHL: 490C>T; Q164*

PubMed Link: 29617669

Variant Present in the following documents:

• NIHMS958988-supplement-3.xlsx, sheet 1

View BVdb publication page

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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: 490C>T; Q164*; rs5030819

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Spatio-temporal mutation profiles of case-matched colorectal carcinomas and their metastases reveal unique de novo mutations in metachronous lung metastases by targeted next generation sequencing.

Molecular Cancer

Kovaleva, Valentina V; Geissler, Anna-Lena AL; Lutz, Lisa L; Fritsch, Ralph R; Makowiec, Frank F; Wiesemann, Sebastian S; Hopt, Ulrich T UT; Passlick, Bernward B; Werner, Martin M; Lassmann, Silke S

Publication Date: 2016-10-18

Variant appearance in text: VHL: 490C>T; Gln164Ter

PubMed Link: 27756406

Variant Present in the following documents:

• 12943_2016_549_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: VHL: 490C>T; Q164*

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Difference in CXCR4 expression between sporadic and VHL-related hemangioblastoma.

Familial Cancer

Kruizinga, Roeliene C RC; van Marion, Denise M S DM; den Dunnen, Wilfred F A WF; de Groot, Jan C JC; Hoving, Eelco W EW; Oosting, Sjoukje F SF; Timmer-Bosscha, Hetty H; Derks, Rosalie P H RP; Cornelissen, Chantal C; van der Luijt, Rob B RB; Links, Thera P TP; de Vries, Elisabeth G E EG; Walenkamp, Annemiek M E AM

Publication Date: 2016-10

Variant appearance in text: VHL: 490C>T; Gln164*

PubMed Link: 26920352

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutational analysis of pulmonary tumours with neuroendocrine features using targeted massive parallel sequencing: a comparison of a neglected tumour group.

British Journal Of Cancer

Vollbrecht, Claudia C; Werner, Robert R; Walter, Robert Fred Henry RF; Christoph, Daniel Christian DC; Heukamp, Lukas Carl LC; Peifer, Martin M; Hirsch, Burkhard B; Burbat, Lina L; Mairinger, Thomas T; Schmid, Kurt Werner KW; Wohlschlaeger, Jeremias J; Mairinger, Fabian Dominik FD

Publication Date: 2015-12-22

Variant appearance in text: VHL1: Q164*

PubMed Link: 26645239

Variant Present in the following documents:

• Main text
• bjc2015397a.pdf

View BVdb publication page

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: VHL: 490C>T; Q164*; rs5030819

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

View BVdb publication page

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