VHL c.473T>A ;(p.L158Q)

Variant ID: 3-10191480-T-A

NM_000551.3(VHL):c.473T>A;(p.L158Q)

This variant was identified in 41 publications

View GRCh38 version.




Publications:


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: 473T>A; Leu158Gln; rs121913346
PubMed Link: 36815791
Variant Present in the following documents:
  • ccr-22-1936_supplementary_table_s2_suppts2.xlsx, sheet 1
View BVdb publication page



Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications
Boström, Martin M; Larsson, Erik E
Publication Date: 2022-11-17

Variant appearance in text: VHL: L158Q
PubMed Link: 36396655
Variant Present in the following documents:
  • 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



VHL-P138R and VHL-L163R Novel Variants: Mechanisms of VHL Pathogenicity Involving HIF-Dependent and HIF-Independent Actions.

Frontiers In Endocrinology
Mathó, Cecilia C; Fernández, María Celia MC; Bonanata, Jenner J; Liu, Xian-De XD; Martin, Ayelen A; Vieites, Ana A; Sansó, Gabriela G; Barontini, Marta M; Jonasch, Eric E; Coitiño, E Laura EL; Pennisi, Patricia Alejandra PA
Publication Date: 2022

Variant appearance in text: VHL: L158Q
PubMed Link: 35388293
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of Survival-Specific Genes in Clear Cell Renal Cell Carcinoma Using a Customized Next-Generation Sequencing Gene Panel.

Journal Of Personalized Medicine
Hwang, Jia J; Kim, Heeeun H; Han, Jinseon J; Lee, Jieun J; Hong, Sunghoo S; Kim, Saewoong S; Yoon, Sungjoo Kim SK; Choi, Keonwoo K; Yang, Jihoon J; Park, Unsang U; Kim, Kwangjoong K; Yim, Kwangil K; Kim, Yuil Y; Choi, Yeongjin Y
Publication Date: 2022-01-14

Variant appearance in text: VHL: 473T>A; Leu158Gln
PubMed Link: 35055428
Variant Present in the following documents:
  • Main text
  • jpm-12-00113.pdf
View BVdb publication page



Identification of Survival-Specific Genes in Clear Cell Renal Cell Carcinoma Using a Customized Next-Generation Sequencing Gene Panel.

Journal Of Personalized Medicine
Hwang, Jia J; Kim, Heeeun H; Han, Jinseon J; Lee, Jieun J; Hong, Sunghoo S; Kim, Saewoong S; Yoon, Sungjoo Kim SK; Choi, Keonwoo K; Yang, Jihoon J; Park, Unsang U; Kim, Kwangjoong K; Yim, Kwangil K; Kim, Yuil Y; Choi, Yeongjin Y
Publication Date: 2022-01-14

Variant appearance in text: VHL: 473T>A; Leu158Gln
PubMed Link: 35055428
Variant Present in the following documents:
  • Main text
  • jpm-12-00113.pdf
View BVdb publication page



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: L158Q
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Improvement of Neoantigen Identification Through Convolution Neural Network.

Frontiers In Immunology
Hao, Qing Q; Wei, Ping P; Shu, Yang Y; Zhang, Yi-Guan YG; Xu, Heng H; Zhao, Jun-Ning JN
Publication Date: 2021

Variant appearance in text: VHL: L158Q
PubMed Link: 34113354
Variant Present in the following documents:
  • Table_1.xlsx, sheet 12
View BVdb publication page



Detection of von Hippel-Lindau gene mutation in circulating cell-free DNA for clear cell renal cell carcinoma.

Cancer Science
Sumiyoshi, Takayuki T; Yamasaki, Toshinari T; Takeda, Masashi M; Mizuno, Kei K; Utsunomiya, Noriaki N; Sakamoto, Hiromasa H; Nakamura, Eijiro E; Ogawa, Osamu O; Akamatsu, Shusuke S
Publication Date: 2021-08

Variant appearance in text: VHL: L158Q
PubMed Link: 34009695
Variant Present in the following documents:
  • CAS-112-3363-s003.xlsx, sheet 1
View BVdb publication page



Spatially interacting phosphorylation sites and mutations in cancer.

Nature Communications
Huang, Kuan-Lin KL; Scott, Adam D AD; Zhou, Daniel Cui DC; Wang, Liang-Bo LB; Weerasinghe, Amila A; Elmas, Abdulkadir A; Liu, Ruiyang R; Wu, Yige Y; Wendl, Michael C MC; Wyczalkowski, Matthew A MA; Baral, Jessika J; Sengupta, Sohini S; Lai, Chin-Wen CW; Ruggles, Kelly K; Payne, Samuel H SH; Raphael, Benjamin B; Fenyö, David D; Chen, Ken K; Mills, Gordon G; Ding, Li L
Publication Date: 2021-04-19

Variant appearance in text: VHL: L158Q
PubMed Link: 33875650
Variant Present in the following documents:
  • 41467_2021_22481_MOESM4_ESM.xlsx, sheet 6
  • 41467_2021_22481_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



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: 473T>A; L158Q
PubMed Link: 33704917
Variant Present in the following documents:
  • TCA-12-1271-s003.xls, sheet 1
View BVdb publication page



Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.

Nature Communications
Bakouny, Ziad Z; Braun, David A DA; Shukla, Sachet A SA; Pan, Wenting W; Gao, Xin X; Hou, Yue Y; Flaifel, Abdallah A; Tang, Stephen S; Bosma-Moody, Alice A; He, Meng Xiao MX; Vokes, Natalie N; Nyman, Jackson J; Xie, Wanling W; Nassar, Amin H AH; Abou Alaiwi, Sarah S; Flippot, Ronan R; Bouchard, Gabrielle G; Steinharter, John A JA; Nuzzo, Pier Vitale PV; Ficial, Miriam M; Sant'Angelo, Miriam M; Forman, Juliet J; Berchuck, Jacob E JE; Dudani, Shaan S; Bi, Kevin K; Park, Jihye J; Camp, Sabrina S; Sticco-Ivins, Maura M; Hirsch, Laure L; Baca, Sylvan C SC; Wind-Rotolo, Megan M; Ross-Macdonald, Petra P; Sun, Maxine M; Lee, Gwo-Shu Mary GM; Chang, Steven L SL; Wei, Xiao X XX; McGregor, Bradley A BA; Harshman, Lauren C LC; Genovese, Giannicola G; Ellis, Leigh L; Pomerantz, Mark M; Hirsch, Michelle S MS; Freedman, Matthew L ML; Atkins, Michael B MB; Wu, Catherine J CJ; Ho, Thai H TH; Linehan, W Marston WM; McDermott, David F DF; Heng, Daniel Y C DYC; Viswanathan, Srinivas R SR; Signoretti, Sabina S; Van Allen, Eliezer M EM; Choueiri, Toni K TK
Publication Date: 2021-02-05

Variant appearance in text: VHL: 473T>A; L158Q
PubMed Link: 33547292
Variant Present in the following documents:
  • 41467_2021_21068_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.

Plos One
Fields, Francisco R FR; Suresh, Niraja N; Hiller, Morgan M; Freed, Stefan D SD; Haldar, Kasturi K; Lee, Shaun W SW
Publication Date: 2020

Variant appearance in text: VHL: L158Q
PubMed Link: 33151962
Variant Present in the following documents:
  • Main text
  • pone.0234100.pdf
View BVdb publication page



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: L158Q
PubMed Link: 33106165
Variant Present in the following documents:
  • 13073_2020_787_MOESM1_ESM.xlsx, sheet 9
View BVdb publication page



Genomic Analysis Reveals Novel Specific Metastatic Mutations in Chinese Clear Cell Renal Cell Carcinoma.

Biomed Research International
Meng, Hui H; Jiang, Xuewen X; Cui, Jianfeng J; Yin, Gang G; Shi, Benkang B; Liu, Qi Q; Xuan, He H; Wang, Yu Y
Publication Date: 2020

Variant appearance in text: VHL: 473T>A; Leu158Gln
PubMed Link: 33062672
Variant Present in the following documents:
  • 2495157.f1.xlsx, sheet 5
View BVdb publication page



Transcriptomic characterization and innovative molecular classification of clear cell renal cell carcinoma in the Chinese population.

Cancer Cell International
Zhao, Qiang Q; Xue, Jia J; Hong, Baoan B; Qian, Wubin W; Liu, Tiezhu T; Fan, Bin B; Cai, Jie J; Ji, Yongpeng Y; Liu, Jia J; Yang, Yong Y; Li, Qixiang Q; Guo, Sheng S; Zhang, Ning N
Publication Date: 2020

Variant appearance in text: N/A
PubMed Link: 32982583
Variant Present in the following documents:
View BVdb publication page



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: L158Q
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



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: L158Q
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



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: 473T>A; L158Q
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Identification of 12 cancer types through genome deep learning.

Scientific Reports
Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W
Publication Date: 2019-11-21

Variant appearance in text: VHL: L158Q
PubMed Link: 31754222
Variant Present in the following documents:
  • 41598_2019_53989_MOESM4_ESM.xlsx, sheet 5
View BVdb publication page



Extracting Complementary Insights from Molecular Phenotypes for Prioritization of Disease-Associated Mutations.

Current Opinion In Systems Biology
Wierbowski, Shayne D SD; Fragoza, Robert R; Liang, Siqi S; Yu, Haiyuan H
Publication Date: 2018-10

Variant appearance in text: VHL: L158Q
PubMed Link: 31086831
Variant Present in the following documents:
  • Main text
View BVdb publication page



Fibroblast growth factor receptor 3 (FGFR3) aberrations in muscle-invasive urothelial carcinoma.

Bmc Urology
Kim, Young Saing YS; Kim, Kyung K; Kwon, Ghee-Young GY; Lee, Su Jin SJ; Park, Se Hoon SH
Publication Date: 2018-07-31

Variant appearance in text: VHL: 473T>A; L158Q
PubMed Link: 30064409
Variant Present in the following documents:
  • 12894_2018_380_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Feasibility study of cancer genome alterations identified by next generation sequencing: ABC study.

Japanese Journal Of Clinical Oncology
Naito, Yoichi Y; Takahashi, Hideaki H; Shitara, Kohei K; Okamoto, Wataru W; Bando, Hideaki H; Kuwata, Takeshi T; Kuboki, Yasutoshi Y; Matsumoto, Shingo S; Miki, Izumi I; Yamanaka, Takeharu T; Watanabe, Atsushi A; Kojima, Motohiro M
Publication Date: 2018-06-01

Variant appearance in text: VHL: 473T>A; L158Q
PubMed Link: 29659903
Variant Present in the following documents:
  • hyy052supplementaltable1ionver1.xls, sheet 1
View BVdb publication page



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: 473T>A; Leu158Gln
PubMed Link: 29617669
Variant Present in the following documents:
  • NIHMS958988-supplement-3.xlsx, sheet 1
View BVdb publication page



Molecular Characterization of Urothelial Carcinoma of the Bladder and Upper Urinary Tract.

Translational Oncology
Lee, Ji Yun JY; Kim, Kyung K; Sung, Hyun Hwan HH; Jeon, Hwang Gyun HG; Jeong, Byong Chang BC; Seo, Seong Il SI; Jeon, Seong Soo SS; Lee, Hyun Moo HM; Choi, Han-Yong HY; Kwon, Ghee-Young GY; Kim, Kyoung-Mee KM; Lee, Jeeyun J; Lim, Ho Yeong HY; Park, Se Hoon SH
Publication Date: 2018-02

Variant appearance in text: VHL: 473T>A; L158Q
PubMed Link: 29161613
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



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: 473T>A; L158Q
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Molecular Characterization of a Novel Germline VHL Mutation by Extensive In Silico Analysis in an Indian Family with Von Hippel-Lindau Disease.

Genetics Research International
Arunachal, Gautham G; Pachat, Divya D; Doss, C George Priya CG; Danda, Sumita S; Pai, Rekha R; Ebenazer, Andrew A
Publication Date: 2016

Variant appearance in text: VHL: 473T>A; L158Q
PubMed Link: 27069690
Variant Present in the following documents:
  • Main text
  • GRI2016-9872594.pdf
View BVdb publication page



Mutational profiling of brain metastasis from breast cancer: matched pair analysis of targeted sequencing between brain metastasis and primary breast cancer.

Oncotarget
Lee, Ji Yun JY; Park, Kyunghee K; Lim, Sung Hee SH; Kim, Hae Su HS; Yoo, Kwai Han KH; Jung, Ki Sun KS; Song, Haa-Na HN; Hong, Mineui M; Do, In-Gu IG; Ahn, TaeJin T; Lee, Se Kyung SK; Bae, Soo Youn SY; Kim, Seok Won SW; Lee, Jeong Eon JE; Nam, Seok Jin SJ; Kim, Duk-Hwan DH; Jung, Hae Hyun HH; Kim, Ji-Yeon JY; Ahn, Jin Seok JS; Im, Young-Hyuck YH; Park, Yeon Hee YH
Publication Date: 2015-12-22

Variant appearance in text: VHL: 473T>A; L158Q
PubMed Link: 26527317
Variant Present in the following documents:
  • oncotarget-06-43731-s002.xlsx, sheet 1
View BVdb publication page



E2-EPF UCP regulates stability and functions of missense mutant pVHL via ubiquitin mediated proteolysis.

Bmc Cancer
Park, Kyeong-Su KS; Kim, Ju Hee JH; Shin, Hee Won HW; Chung, Kyung-Sook KS; Im, Dong-Soo DS; Lim, Jung Hwa JH; Jung, Cho-Rok CR
Publication Date: 2015-10-26

Variant appearance in text: VHL: L158Q
PubMed Link: 26503325
Variant Present in the following documents:
  • Main text
  • 12885_2015_Article_1786.pdf
View BVdb publication page



Patient-derived cell models as preclinical tools for genome-directed targeted therapy.

Oncotarget
Lee, Ji Yun JY; Kim, Sun Young SY; Park, Charny C; Kim, Nayoung K D NK; Jang, Jiryeon J; Park, Kyunghee K; Yi, Jun Ho JH; Hong, Mineui M; Ahn, Taejin T; Rath, Oliver O; Schueler, Julia J; Kim, Seung Tae ST; Do, In-Gu IG; Lee, Sujin S; Park, Se Hoon SH; Ji, Yong Ick YI; Kim, Dukwhan D; Park, Joon Oh JO; Park, Young Suk YS; Kang, Won Ki WK; Kim, Kyoung-Mee KM; Park, Woong-Yang WY; Lim, Ho Yeong HY; Lee, Jeeyun J
Publication Date: 2015-09-22

Variant appearance in text: VHL: 473T>A; L158Q
PubMed Link: 26296973
Variant Present in the following documents:
  • oncotarget-06-25619-s003.xls, sheet 1
View BVdb publication page



Molecular characterization of patients with pathologic complete response or early failure after neoadjuvant chemotherapy for locally advanced breast cancer using next generation sequencing and nCounter assay.

Oncotarget
Park, Kyunghee K; Choi, Moon Ki MK; Jung, Hae Hyun HH; Do, In-Gu IG; Lee, Kwang Hee KH; Ahn, TaeJin T; Kil, Won Ho WH; Kim, Seok Won SW; Lee, Jeong Eon JE; Nam, Seok Jin SJ; Kim, Duk-Hwan DH; Ahn, Jin Seok JS; Im, Young-Hyuck YH; Park, Yeon Hee YH
Publication Date: 2015-09-15

Variant appearance in text: VHL: 473T>A; L158Q
PubMed Link: 26009992
Variant Present in the following documents:
  • oncotarget-06-24499-s002.xlsx, sheet 1
View BVdb publication page



Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications
Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP
Publication Date: 2014-12-24

Variant appearance in text: VHL: L158Q
PubMed Link: 25589003
Variant Present in the following documents:
  • 40478_2014_167_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Intratumoral heterogeneity in a minority of ovarian low-grade serous carcinomas.

Bmc Cancer
Tone, Alicia A AA; McConechy, Melissa K MK; Yang, Winnie W; Ding, Jiarui J; Yip, Stephen S; Kong, Esther E; Wong, Kwong-Kwok KK; Gershenson, David M DM; Mackay, Helen H; Shah, Sohrab S; Gilks, Blake B; Tinker, Anna V AV; Clarke, Blaise B; McAlpine, Jessica N JN; Huntsman, David D
Publication Date: 2014-12-18

Variant appearance in text: VHL: L158Q
PubMed Link: 25523272
Variant Present in the following documents:
  • 12885_2014_5198_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



High-throughput sequencing and copy number variation detection using formalin fixed embedded tissue in metastatic gastric cancer.

Plos One
Kim, Seokhwi S; Lee, Jeeyun J; Hong, Min Eui ME; Do, In-Gu IG; Kang, So Young SY; Ha, Sang Yun SY; Kim, Seung Tae ST; Park, Se Hoon SH; Kang, Won Ki WK; Choi, Min-Gew MG; Lee, Jun Ho JH; Sohn, Tae Sung TS; Bae, Jae Moon JM; Kim, Sung S; Kim, Duk-Hwan DH; Kim, Kyoung-Mee KM
Publication Date: 2014

Variant appearance in text: VHL: 473T>A; L158Q
PubMed Link: 25372287
Variant Present in the following documents:
  • pone.0111693.s003.xls, sheet 1
View BVdb publication page



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: L158Q
PubMed Link: 25157968
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: L158Q
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 1
View BVdb publication page



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: L158Q
PubMed Link: 23639312
Variant Present in the following documents:
  • Main text
View BVdb publication page



Determination of the consequences of VHL mutations on VHL transcripts in renal cell carcinoma.

International Journal Of Oncology
Taylor, Claire C; Craven, Rachel A RA; Harnden, Patricia P; Selby, Peter J PJ; Banks, Rosamonde E RE
Publication Date: 2012-10

Variant appearance in text: VHL: 473T>A; L158Q
PubMed Link: 22825683
Variant Present in the following documents:
  • Main text
  • ijo-41-04-1229.pdf
View BVdb publication page



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: 473T>A; L158Q
PubMed Link: 22460905
Variant Present in the following documents:
  • NIHMS361223-supplement-4.xlsx, sheet 3
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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: L158Q
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
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Analysis of VHL Gene Alterations and their Relationship to Clinical Parameters in Sporadic Conventional Renal Cell Carcinoma.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Young, Alison C AC; Craven, Rachel A RA; Cohen, Dena D; Taylor, Claire C; Booth, Christopher C; Harnden, Patricia P; Cairns, David A DA; Astuti, Dewi D; Gregory, Walter W; Maher, Eamonn R ER; Knowles, Margaret A MA; Joyce, Adrian A; Selby, Peter J PJ; Banks, Rosamonde E RE
Publication Date: 2009-12-15

Variant appearance in text: VHL: L158Q
PubMed Link: 19996202
Variant Present in the following documents:
  • Main text
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Profiling critical cancer gene mutations in clinical tumor samples.

Plos One
MacConaill, Laura E LE; Campbell, Catarina D CD; Kehoe, Sarah M SM; Bass, Adam J AJ; Hatton, Charles C; Niu, Lili L; Davis, Matt M; Yao, Keluo K; Hanna, Megan M; Mondal, Chandrani C; Luongo, Lauren L; Emery, Caroline M CM; Baker, Alissa C AC; Philips, Juliet J; Goff, Deborah J DJ; Fiorentino, Michelangelo M; Rubin, Mark A MA; Polyak, Kornelia K; Chan, Jennifer J; Wang, Yuexiang Y; Fletcher, Jonathan A JA; Santagata, Sandro S; Corso, Gianni G; Roviello, Franco F; Shivdasani, Ramesh R; Kieran, Mark W MW; Ligon, Keith L KL; Stiles, Charles D CD; Hahn, William C WC; Meyerson, Matthew L ML; Garraway, Levi A LA
Publication Date: 2009-11-18

Variant appearance in text: VHL: L158Q
PubMed Link: 19924296
Variant Present in the following documents:
  • pone.0007887.s002.xls, sheet 1
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Synergistic growth inhibition by Iressa and Rapamycin is modulated by VHL mutations in renal cell carcinoma.

British Journal Of Cancer
Gemmill, R M RM; Zhou, M M; Costa, L L; Korch, C C; Bukowski, R M RM; Drabkin, H A HA
Publication Date: 2005-06-20

Variant appearance in text: VHL: L158Q
PubMed Link: 15956968
Variant Present in the following documents:
  • Main text
  • 92-6602646a.pdf
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