Publications:

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Clinical utility of liquid biopsy and integrative genomic profiling in early-stage and oligometastatic cancer patients treated with radiotherapy.

British Journal Of Cancer

Cifuentes, Guadalupe A GA; Santiago, Adrián A; Méndez Blanco, Lucía L; Fueyo, María M; López Martínez, Esther E; Soria, Raquel R; Martín López, Irene I; Cucarella Beltrán, Pepa P; Pardo-Coto, Pablo P; Rodriguez-Rubi, David D; Urquilla, Karla K; Durán, Noelia S NS; Álvarez, Rebeca R; Lago, Claudia G CG; Otero, Andrea A; Diñeiro, Marta M; Capín, Raquel R; Cadiñanos, Juan J; Cabanillas, Rubén R

Publication Date: 2022-12-22

Variant appearance in text: KIT: 2459A>T; Asp820Val

PubMed Link: 36550207

Variant Present in the following documents:

• Main text
• 41416_2022_2102_MOESM6_ESM.xlsx, sheet 1
• 41416_2022_2102_MOESM5_ESM.xlsx, sheet 1
• 41416_2022_Article_2102.pdf

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AACR Project GENIE: 100,000 Cases and Beyond.

Cancer Discovery

Pugh, Trevor J TJ; Bell, Jonathan L JL; Bruce, Jeff P JP; Doherty, Gary J GJ; Galvin, Matthew M; Green, Michelle F MF; Hunter-Zinck, Haley H; Kumari, Priti P; Lenoue-Newton, Michele L ML; Li, Marilyn M MM; Lindsay, James J; Mazor, Tali T; Ovalle, Andrea A; Sammut, Stephen-John SJ; Schultz, Nikolaus N; Yu, Thomas V TV; Sweeney, Shawn M SM; Bernard, Brady B; ,

Publication Date: 2022-09-02

Variant appearance in text: KIT: D820V

PubMed Link: 35819403

Variant Present in the following documents:

• cd-21-1547_supplementary_table_1_suppst1.xlsx, sheet 1

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Efficacy and safety of ripretinib in patients with KIT-altered metastatic melanoma.

Esmo Open

Janku, F F; Bauer, S S; Shoumariyeh, K K; Jones, R L RL; Spreafico, A A; Jennings, J J; Psoinos, C C; Meade, J J; Ruiz-Soto, R R; Chi, P P

Publication Date: 2022-08

Variant appearance in text: KIT: D820V

PubMed Link: 35753087

Variant Present in the following documents:

• Main text
• main.pdf

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Molecular Portrait of GISTs Associated With Clinicopathological Features: A Retrospective Study With Molecular Analysis by a Custom 9-Gene Targeted Next-Generation Sequencing Panel.

Frontiers In Genetics

Qian, Haoran H; Yan, Na N; Hu, Xiaotong X; Jiang, Junchang J; Cao, Zhengzheng Z; Shen, Dan D

Publication Date: 2022

Variant appearance in text: KIT: D820V

PubMed Link: 35547262

Variant Present in the following documents:

• Main text
• fgene-13-864499.pdf

View BVdb publication page

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Systematic review and meta-analysis of genomic alterations in acral melanoma.

Pigment Cell & Melanoma Research

Broit, Natasa N; Johansson, Peter A PA; Rodgers, Chloe B CB; Walpole, Sebastian T ST; Hayward, Nicholas K NK; Pritchard, Antonia L AL

Publication Date: 2022-05

Variant appearance in text: KIT: D820V

PubMed Link: 35229492

Variant Present in the following documents:

• PCMR-35-369-s002.pdf

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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: KIT: 2459A>T; D820V

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

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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: KIT: 2459A>T; D820V

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Frontiers In Immunology

Punta, Marco M; Jennings, Victoria A VA; Melcher, Alan A AA; Lise, Stefano S

Publication Date: 2020

Variant appearance in text: KIT: D820V

PubMed Link: 33133066

Variant Present in the following documents:

• Table_1.xlsx, sheet 8
• Table_2.xlsx, sheet 1
• Table_6.xlsx, sheet 9
• Table_1.xlsx, sheet 4
• Table_2.xlsx, sheet 7
• Table_6.xlsx, sheet 4
• Table_2.xlsx, sheet 2

View BVdb publication page

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Usefulness of a novel device to divide core needle biopsy specimens in a spatially matched fashion.

Scientific Reports

Shiraishi, Takumi T; Inui, Shogo S; Inoue, Yuta Y; Saito, Yumiko Y; Taga, Hideto H; Kaneko, Masatomo M; Tsuji, Keisuke K; Ueda, Saya S; Ueda, Takashi T; Matsugasumi, Toru T; Taniguchi, Hidefumi H; Ueno, Akihisa A; Yamada, Takeshi T; Yamada, Yasuhiro Y; Iwata, Tsuyoshi T; Fujihara, Atsuko A; Hongo, Fumiya F; Ukimura, Osamu O

Publication Date: 2020-10-13

Variant appearance in text: rs121913682

PubMed Link: 33051506

Variant Present in the following documents:

• 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: KIT: D820V

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

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Research Autopsy Demonstrates Polyclonal Acquired Resistance in a Patient With Metastatic GI Stromal Tumor.

Jco Precision Oncology

Paruchuri, Anoosha A; Chen, Hui-Zi HZ; Bonneville, Russell R; Reeser, Julie W JW; Wing, Michele R MR; Krook, Melanie A MA; Samorodnitsky, Eric E; Miya, Jharna J; Dao, Thuy T; Smith, Amy A; Freud, Aharon G AG; Allenby, Patricia P; Roychowdhury, Sameek S

Publication Date: 2020

Variant appearance in text: KIT: D820V

PubMed Link: 32923900

Variant Present in the following documents:

• Main text

View BVdb publication page

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Phase and context shape the function of composite oncogenic mutations.

Nature

Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS

Publication Date: 2020-06

Variant appearance in text: KIT: D820V

PubMed Link: 32461694

Variant Present in the following documents:

• NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2

View BVdb publication page

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Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Frontiers In Oncology

Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N

Publication Date: 2020

Variant appearance in text: KIT: 2459A>T; D820V

PubMed Link: 32373528

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Genomic landscape of platinum resistant and sensitive testicular cancers.

Nature Communications

Loveday, Chey C; Litchfield, Kevin K; Proszek, Paula Z PZ; Cornish, Alex J AJ; Santo, Flavia F; Levy, Max M; Macintyre, Geoff G; Holryod, Amy A; Broderick, Peter P; Dudakia, Darshna D; Benton, Barbara B; Bakir, Maise Al MA; Hiley, Crispin C; Grist, Emily E; Swanton, Charles C; Huddart, Robert R; Powles, Tom T; Chowdhury, Simon S; Shipley, Janet J; O'Connor, Simon S; Brenton, James D JD; Reid, Alison A; de Castro, David Gonzalez DG; Houlston, Richard S RS; Turnbull, Clare C

Publication Date: 2020-05-04

Variant appearance in text: KIT: D820V

PubMed Link: 32366847

Variant Present in the following documents:

• 41467_2020_15768_MOESM7_ESM.xlsx, sheet 2

View BVdb publication page

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Secondary Resistant Mutations to Small Molecule Inhibitors in Cancer Cells.

Cancers

Hamid, Abdulaziz B AB; Petreaca, Ruben C RC

Publication Date: 2020-04-09

Variant appearance in text: KIT: D820V

PubMed Link: 32283832

Variant Present in the following documents:

• cancers-12-00927-s001.pdf

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Loss of PI3 kinase association improves the sensitivity of secondary mutation of KIT to Imatinib.

Cell & Bioscience

Zhu, Guangrong G; Shi, Jun J; Zhang, Shaoting S; Guo, Yue Y; Huang, Ling L; Zhao, Hui H; Jiang, Yideng Y; Sun, Jianmin J

Publication Date: 2020

Variant appearance in text: KIT: D820V

PubMed Link: 32082541

Variant Present in the following documents:

• Main text
• 13578_2020_Article_377.pdf

View BVdb publication page

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TAS-116 inhibits oncogenic KIT signalling on the Golgi in both imatinib-naïve and imatinib-resistant gastrointestinal stromal tumours.

British Journal Of Cancer

Saito, Yurina Y; Takahashi, Tsuyoshi T; Obata, Yuuki Y; Nishida, Toshirou T; Ohkubo, Shuichi S; Nakagawa, Fumio F; Serada, Satoshi S; Fujimoto, Minoru M; Ohkawara, Tomoharu T; Nishigaki, Takahiko T; Sugase, Takahito T; Koh, Masahiro M; Ishida, Tomo T; Tanaka, Koji K; Miyazaki, Yasuhiro Y; Makino, Tomoki T; Kurokawa, Yukinori Y; Nakajima, Kiyokazu K; Yamasaki, Makoto M; Hirota, Seiichi S; Naka, Tetsuji T; Mori, Masaki M; Doki, Yuichiro Y

Publication Date: 2020-03

Variant appearance in text: KIT: D820V

PubMed Link: 31857719

Variant Present in the following documents:

• Main text
• 41416_2019_Article_688.pdf

View BVdb publication page

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: KIT: D820V

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Targeted mutation detection in breast cancer using MammaSeq™.

Breast Cancer Research : Bcr

Smith, Nicholas G NG; Gyanchandani, Rekha R; Shah, Osama S OS; Gurda, Grzegorz T GT; Lucas, Peter C PC; Hartmaier, Ryan J RJ; Brufsky, Adam M AM; Puhalla, Shannon S; Bahreini, Amir A; Kota, Karthik K; Wald, Abigail I AI; Nikiforov, Yuri E YE; Nikiforova, Marina N MN; Oesterreich, Steffi S; Lee, Adrian V AV

Publication Date: 2019-02-08

Variant appearance in text: KIT: D820V

PubMed Link: 30736836

Variant Present in the following documents:

• 13058_2019_1102_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Immune checkpoint inhibitors in the treatment of advanced mucosal melanoma.

Melanoma Management

Kuo, James C JC

Publication Date: 2017-09

Variant appearance in text: KIT: Asp820Val

PubMed Link: 30190921

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular characterization and pathogenesis of gastrointestinal stromal tumor.

Translational Gastroenterology And Hepatology

Niinuma, Takeshi T; Suzuki, Hiromu H; Sugai, Tamotsu T

Publication Date: 2018

Variant appearance in text: KIT: D820V

PubMed Link: 29441367

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prevalence and detection of low-allele-fraction variants in clinical cancer samples.

Nature Communications

Shin, Hyun-Tae HT; Choi, Yoon-La YL; Yun, Jae Won JW; Kim, Nayoung K D NKD; Kim, Sook-Young SY; Jeon, Hyo Jeong HJ; Nam, Jae-Yong JY; Lee, Chung C; Ryu, Daeun D; Kim, Sang Cheol SC; Park, Kyunghee K; Lee, Eunjin E; Bae, Joon Seol JS; Son, Dae Soon DS; Joung, Je-Gun JG; Lee, Jeeyun J; Kim, Seung Tae ST; Ahn, Myung-Ju MJ; Lee, Se-Hoon SH; Ahn, Jin Seok JS; Lee, Woo Yong WY; Oh, Bo Young BY; Park, Yeon Hee YH; Lee, Jeong Eon JE; Lee, Kwang Hyuk KH; Kim, Hee Cheol HC; Kim, Kyoung-Mee KM; Im, Young-Hyuck YH; Park, Keunchil K; Park, Peter J PJ; Park, Woong-Yang WY

Publication Date: 2017-11-09

Variant appearance in text: KIT: D820V

PubMed Link: 29123093

Variant Present in the following documents:

• 41467_2017_1470_MOESM11_ESM.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: KIT: 2459A>T; D820V

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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A phase 2 trial of dasatinib in patients with locally advanced or stage IV mucosal, acral, or vulvovaginal melanoma: A trial of the ECOG-ACRIN Cancer Research Group (E2607).

Cancer

Kalinsky, Kevin K; Lee, Sandra S; Rubin, Krista M KM; Lawrence, Donald P DP; Iafrarte, Anthony J AJ; Borger, Darell R DR; Margolin, Kim A KA; Leitao, Mario M MM; Tarhini, Ahmad A AA; Koon, Henry B HB; Pecora, Andrew L AL; Jaslowski, Anthony J AJ; Cohen, Gary I GI; Kuzel, Timothy M TM; Lao, Christopher D CD; Kirkwood, John M JM

Publication Date: 2017-07-15

Variant appearance in text: KIT: D820V

PubMed Link: 28334439

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide chemical mutagenesis screens allow unbiased saturation of the cancer genome and identification of drug resistance mutations.

Genome Research

Brammeld, Jonathan S JS; Petljak, Mia M; Martincorena, Inigo I; Williams, Steven P SP; Alonso, Luz Garcia LG; Dalmases, Alba A; Bellosillo, Beatriz B; Robles-Espinoza, Carla Daniela CD; Price, Stacey S; Barthorpe, Syd S; Tarpey, Patrick P; Alifrangis, Constantine C; Bignell, Graham G; Vidal, Joana J; Young, Jamie J; Stebbings, Lucy L; Beal, Kathryn K; Stratton, Michael R MR; Saez-Rodriguez, Julio J; Garnett, Mathew M; Montagut, Clara C; Iorio, Francesco F; McDermott, Ultan U

Publication Date: 2017-04

Variant appearance in text: KIT: 2459A>T; D820V

PubMed Link: 28179366

Variant Present in the following documents:

• supp_gr.213546.116_Supplemental_Table_S7.xlsx, sheet 1

View BVdb publication page

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Genomic and transcriptomic analysis of imatinib resistance in gastrointestinal stromal tumors.

Genes, Chromosomes & Cancer

Takahashi, Tsuyoshi T; Elzawahry, Asmaa A; Mimaki, Sachiyo S; Furukawa, Eisaku E; Nakatsuka, Rie R; Nakamura, Hiromi H; Nishigaki, Takahiko T; Serada, Satoshi S; Naka, Tetsuji T; Hirota, Seiichi S; Shibata, Tatsuhiro T; Tsuchihara, Katsuya K; Nishida, Toshirou T; Kato, Mamoru M

Publication Date: 2017-04

Variant appearance in text: KIT: D820V

PubMed Link: 27997714

Variant Present in the following documents:

• Main text
• GCC-56-303.pdf

View BVdb publication page

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FGFR1 and NTRK3 actionable alterations in "Wild-Type" gastrointestinal stromal tumors.

Journal Of Translational Medicine

Shi, Eileen E; Chmielecki, Juliann J; Tang, Chih-Min CM; Wang, Kai K; Heinrich, Michael C MC; Kang, Guhyun G; Corless, Christopher L CL; Hong, David D; Fero, Katherine E KE; Murphy, James D JD; Fanta, Paul T PT; Ali, Siraj M SM; De Siena, Martina M; Burgoyne, Adam M AM; Movva, Sujana S; Madlensky, Lisa L; Heestand, Gregory M GM; Trent, Jonathan C JC; Kurzrock, Razelle R; Morosini, Deborah D; Ross, Jeffrey S JS; Harismendy, Olivier O; Sicklick, Jason K JK

Publication Date: 2016-12-14

Variant appearance in text: KIT: D820V

PubMed Link: 27974047

Variant Present in the following documents:

• 12967_2016_1075_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Hedgehog pathway dysregulation contributes to the pathogenesis of human gastrointestinal stromal tumors via GLI-mediated activation of KIT expression.

Oncotarget

Tang, Chih-Min CM; Lee, Tracy E TE; Syed, Sabriya A SA; Burgoyne, Adam M AM; Leonard, Stephanie Y SY; Gao, Fei F; Chan, Jonathan C JC; Shi, Eileen E; Chmielecki, Juliann J; Morosini, Deborah D; Wang, Kai K; Ross, Jeffrey S JS; Kendrick, Michael L ML; Bardsley, Michael R MR; Siena, Martina De M; Mao, Junhao J; Harismendy, Olivier O; Ordog, Tamas T; Sicklick, Jason K JK

Publication Date: 2016-11-29

Variant appearance in text: KIT: D820V

PubMed Link: 27793025

Variant Present in the following documents:

• Main text

View BVdb publication page

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Expression and mutation of c-Kit in intracranial germ cell tumors: A single-centre retrospective study of 30 cases in China.

Oncology Letters

Gao, Yu-Ping YP; Jiang, Ji-Yao JY; Liu, Qiang Q

Publication Date: 2016-05

Variant appearance in text: KIT: D820V

PubMed Link: 27123048

Variant Present in the following documents:

• Main text
• ol-11-05-2971.pdf

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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: KIT: D820V

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 1

View BVdb publication page

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Imatinib potentiates antitumor T cell responses in gastrointestinal stromal tumor through the inhibition of Ido.

Nature Medicine

Balachandran, Vinod P VP; Cavnar, Michael J MJ; Zeng, Shan S; Bamboat, Zubin M ZM; Ocuin, Lee M LM; Obaid, Hebroon H; Sorenson, Eric C EC; Popow, Rachel R; Ariyan, Charlotte C; Rossi, Ferdinand F; Besmer, Peter P; Guo, Tianhua T; Antonescu, Cristina R CR; Taguchi, Takahiro T; Yuan, Jianda J; Wolchok, Jedd D JD; Allison, James P JP; DeMatteo, Ronald P RP

Publication Date: 2011-08-28

Variant appearance in text: KIT: D820V

PubMed Link: 21873989

Variant Present in the following documents:

• NIHMS310134-supplement-1.pdf

View BVdb publication page

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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: KIT: D820V

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

View BVdb publication page

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KIT mutations are common in testicular seminomas.

The American Journal Of Pathology

Kemmer, Kathleen K; Corless, Christopher L CL; Fletcher, Jonathan A JA; McGreevey, Laura L; Haley, Andrea A; Griffith, Diana D; Cummings, Oscar W OW; Wait, Cecily C; Town, Ajia A; Heinrich, Michael C MC

Publication Date: 2004-01

Variant appearance in text: KIT: D820V

PubMed Link: 14695343

Variant Present in the following documents:

• Main text

View BVdb publication page

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