KIT c.1676T>C ;(p.V559A)

Variant ID: 4-55593610-T-C

NM_000222.2(KIT):c.1676T>C;(p.V559A)

This variant was identified in 148 publications

View GRCh38 version.




Publications:


Clinicopathological and mutational characteristics of primary double mutant gastrointestinal stromal tumor: a single center study with review of the literature.

Bmc Cancer
Yan, Jiaqi J; He, Xin X; Shen, Chaoyong C; Zou, Yan Y; Chen, Huijiao H; Tang, Yuan Y
Publication Date: 2023-03-08

Variant appearance in text: KIT: V559A
PubMed Link: 36890498
Variant Present in the following documents:
  • Main text
  • 12885_2023_Article_10684.pdf
  • 12885_2023_10684_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Chinese Pedigree with Hereditary Gastrointestinal Stromal Tumors: A Case Report and Literature Review.

International Journal Of Molecular Sciences
Ge, Qichao Q; Liu, Yang Y; Yang, Fan F; Sun, Guangwei G; Guo, Jintao J; Sun, Siyu S
Publication Date: 2023-01-03

Variant appearance in text: KIT: V559A
PubMed Link: 36614290
Variant Present in the following documents:
  • Main text
  • ijms-24-00830.pdf
View BVdb publication page



Plasma Sequencing for Patients with GIST-Limitations and Opportunities in an Academic Setting.

Cancers
Falkenhorst, Johanna J; Grunewald, Susanne S; Krzeciesa, Dawid D; Herold, Thomas T; Ketzer, Julia J; Christoff, Miriam M; Hamacher, Rainer R; Kostbade, Karina K; Treckmann, Jürgen J; Köster, Johannes J; Farzaliyev, Farhad F; Fletcher, Benjamin Samulon BS; Dieckmann, Nils N; Kaths, Moritz M; Mühlenberg, Thomas T; Schildhaus, Hans-Ulrich HU; Bauer, Sebastian S
Publication Date: 2022-11-09

Variant appearance in text: KIT: V559A
PubMed Link: 36428589
Variant Present in the following documents:
  • Main text
  • cancers-14-05496.pdf
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: KIT: V559A
PubMed Link: 36396655
Variant Present in the following documents:
  • Main text
  • 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1
  • 41467_2022_34746_MOESM20_ESM.xlsx, sheet 3
  • 41467_2022_Article_34746.pdf
View BVdb publication page



Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.

The Journal Of Pathology
Birkeälv, Sofia S; Harland, Mark M; Matsuyama, Larissa Satiko Alcantara Sekimoto LSAS; Rashid, Mamun M; Mehta, Ishan I; Laye, Jonathan P JP; Haase, Kerstin K; Mell, Tracey T; Iyer, Vivek V; Robles-Espinoza, Carla Daniela CD; McDermott, Ultan U; van Loo, Peter P; Kuijjer, Marieke L ML; Possik, Patricia A PA; Maria Engler, Silvya Stuchi SS; Bishop, D Timothy DT; Newton-Bishop, Julia J; Adams, David J DJ
Publication Date: 2022-10-11

Variant appearance in text: KIT: V559A
PubMed Link: 36219477
Variant Present in the following documents:
  • PATH-259-56-s004.xlsx, sheet 2
  • PATH-259-56-s006.xlsx, sheet 2
View BVdb publication page



Assessing the Activation of Tyrosine Kinase KIT through Free Energy Calculations.

Journal Of Chemical Theory And Computation
Sandoval-Pérez, Angélica A; Winger, Beth Apsel BA; Jacobson, Matthew P MP
Publication Date: 2022-10-11

Variant appearance in text: KIT: V559A
PubMed Link: 36166736
Variant Present in the following documents:
  • Main text
  • ct2c00526.pdf
View BVdb publication page



Clonal hematopoiesis is not significantly associated with COVID-19 disease severity.

Blood
Zhou, Yifan Y; Shalhoub, Ruba R; Rogers, Stephanie N SN; Yu, Shiqin S; Gu, Muxin M; Fabre, Margarete A MA; Quiros, Pedro M PM; Shin, Tae-Hoon TH; Diangson, Arch A; Deng, Wenhan W; Anand, Shubha S; Lu, Wenhua W; Cullen, Matthew M; Godfrey, Anna L AL; Preller, Jacobus J; Hadjadj, Jerome J; Jouanguy, Emmanuelle E; Cobat, Aurélie A; Abel, Laurent L; Rieux-Laucat, Frederic F; Terrier, Benjamin B; Fischer, Alain A; Novik, Lara L; Gordon, Ingelise J IJ; Strom, Larisa L; Gaudinski, Martin R MR; Lisco, Andrea A; Sereti, Irini I; Gniadek, Thomas J TJ; Biondi, Andrea A; Bonfanti, Paolo P; Imberti, Luisa L; Dalgard, Clifton L CL; Zhang, Yu Y; Dobbs, Kerry K; Su, Helen C HC; Notarangelo, Luigi D LD; Wu, Colin O CO; Openshaw, Peter J M PJM; Semple, Malcolm G MG; Mallat, Ziad Z; Baillie, Kenneth K; Dunbar, Cynthia E CE; Vassiliou, George S GS
Publication Date: 2022-10-06

Variant appearance in text: KIT: V559A
PubMed Link: 35839449
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Nature Genetics
Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS
Publication Date: 2022-08

Variant appearance in text: KIT: V559A
PubMed Link: 35835912
Variant Present in the following documents:
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 3
View BVdb publication page



Familial gastrointestinal stromal tumors with KIT germline mutation in a Chinese family: A case report.

World Journal Of Clinical Cases
Yuan, Wei W; Huang, Wen W; Ren, Lei L; Xu, Chen C; Luan, Li-Juan LJ; Huang, Jie J; Xue, An-Wei AW; Fang, Yong Y; Gao, Xiao-Dong XD; Shen, Kun-Tang KT; Lv, Jing-Huan JH; Hou, Ying-Yong YY
Publication Date: 2022-05-26

Variant appearance in text: KIT: Val559Ala
PubMed Link: 35801023
Variant Present in the following documents:
  • WJCC-10-4878.pdf
View BVdb publication page



The genetic heterogeneity and drug resistance mechanisms of relapsed refractory multiple myeloma.

Nature Communications
Vo, Josh N JN; Wu, Yi-Mi YM; Mishler, Jeanmarie J; Hall, Sarah S; Mannan, Rahul R; Wang, Lisha L; Ning, Yu Y; Zhou, Jin J; Hopkins, Alexander C AC; Estill, James C JC; Chan, Wallace K B WKB; Yesil, Jennifer J; Cao, Xuhong X; Rao, Arvind A; Tsodikov, Alexander A; Talpaz, Moshe M; Cole, Craig E CE; Ye, Jing C JC; , ; Bergsagel, P Leif PL; Auclair, Daniel D; Cho, Hearn Jay HJ; Robinson, Dan R DR; Chinnaiyan, Arul M AM
Publication Date: 2022-06-29

Variant appearance in text: KIT: 1676T>C; Val559Ala; rs121913517
PubMed Link: 35768438
Variant Present in the following documents:
  • 41467_2022_31430_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



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: V559A
PubMed Link: 35753087
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes.

Genome Medicine
Wang, Meng M; Banik, Ishani I; Shain, A Hunter AH; Yeh, Iwei I; Bastian, Boris C BC
Publication Date: 2022-06-16

Variant appearance in text: KIT: V559A
PubMed Link: 35706047
Variant Present in the following documents:
  • 13073_2022_1068_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



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: KIT: V559A
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Mutated KIT Tyrosine Kinase as a Novel Molecular Target in Acute Myeloid Leukemia.

International Journal Of Molecular Sciences
Katagiri, Seiichiro S; Chi, SungGi S; Minami, Yosuke Y; Fukushima, Kentaro K; Shibayama, Hirohiko H; Hosono, Naoko N; Yamauchi, Takahiro T; Morishita, Takanobu T; Kondo, Takeshi T; Yanada, Masamitsu M; Yamamoto, Kazuhito K; Kuroda, Junya J; Usuki, Kensuke K; Akahane, Daigo D; Gotoh, Akihiko A
Publication Date: 2022-04-23

Variant appearance in text: CD117: V559A
PubMed Link: 35563085
Variant Present in the following documents:
  • ijms-23-04694.pdf
View BVdb publication page



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: V559A
PubMed Link: 35547262
Variant Present in the following documents:
  • DataSheet1.xlsx, sheet 1
View BVdb publication page



Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.

Bmc Medical Genomics
Sobahy, Turki M TM; Tashkandi, Ghassan G; Bahussain, Donya D; Al-Harbi, Raneem R
Publication Date: 2022-04-25

Variant appearance in text: KIT: 1676T>C
PubMed Link: 35468810
Variant Present in the following documents:
  • 12920_2022_1235_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Impact of the KIT/PDGFRA genotype on prognosis in imatinib-naïve Japanese patients with gastrointestinal stromal tumor.

Annals Of Gastroenterological Surgery
Cho, Haruhiko H; Nishida, Toshirou T; Takahashi, Tsuyoshi T; Masuzawa, Toru T; Hirota, Seiichi S
Publication Date: 2022-03

Variant appearance in text: KIT: V559A
PubMed Link: 35261949
Variant Present in the following documents:
  • Main text
  • AGS3-6-241.pdf
View BVdb publication page



The impact of whole genome and transcriptome analysis (WGTA) on predictive biomarker discovery and diagnostic accuracy of advanced malignancies.

The Journal Of Pathology. Clinical Research
Tessier-Cloutier, Basile B; Grewal, Jasleen K JK; Jones, Martin R MR; Pleasance, Erin E; Shen, Yaoqing Y; Cai, Ellen E; Dunham, Chris C; Hoang, Lynn L; Horst, Basil B; Huntsman, David G DG; Ionescu, Diana D; Karnezis, Anthony N AN; Lee, Anna F AF; Lee, Cheng Han CH; Lee, Tae Hoon TH; Twa, David Dw DD; Mungall, Andrew J AJ; Mungall, Karen K; Naso, Julia R JR; Ng, Tony T; Schaeffer, David F DF; Sheffield, Brandon S BS; Skinnider, Brian B; Smith, Tyler T; Williamson, Laura L; Zhong, Ellia E; Regier, Dean A DA; Laskin, Janessa J; Marra, Marco A MA; Gilks, C Blake CB; Jones, Steven Jm SJ; Yip, Stephen S
Publication Date: 2022-07

Variant appearance in text: KIT: 1676T>C; Val559Ala; rs121913517
PubMed Link: 35257510
Variant Present in the following documents:
  • CJP2-8-395-s002.xlsx, sheet 1
View BVdb publication page



Nintedanib overcomes drug resistance from upregulation of FGFR signalling and imatinib-induced KIT mutations in gastrointestinal stromal tumours.

Molecular Oncology
Liu, Juan J; Gao, Jingjing J; Wang, Aoli A; Jiang, Zongru Z; Qi, Shuang S; Qi, Ziping Z; Liu, Feiyang F; Yu, Kailin K; Cao, Jiangyan J; Chen, Cheng C; Hu, Chen C; Wu, Hong H; Wang, Li L; Wang, Wenchao W; Liu, Qingsong Q; Liu, Jing J
Publication Date: 2022-04

Variant appearance in text: KIT: V559A
PubMed Link: 35194937
Variant Present in the following documents:
  • Main text
  • MOL2-16-1761.pdf
View BVdb publication page



Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid Leukemia.

Blood Cancer Discovery
Umeda, Masayuki M; Ma, Jing J; Huang, Benjamin J BJ; Hagiwara, Kohei K; Westover, Tamara T; Abdelhamed, Sherif S; Barajas, Juan M JM; Thomas, Melvin E ME; Walsh, Michael P MP; Song, Guangchun G; Tian, Liqing L; Liu, Yanling Y; Chen, Xiaolong X; Kolekar, Pandurang P; Tran, Quang Q; Foy, Scott G SG; Maciaszek, Jamie L JL; Kleist, Andrew B AB; Leonti, Amanda R AR; Ju, Bengsheng B; Easton, John J; Wu, Huiyun H; Valentine, Virginia V; Valentine, Marcus B MB; Liu, Yen-Chun YC; Ries, Rhonda E RE; Smith, Jenny L JL; Parganas, Evan E; Iacobucci, Ilaria I; Hiltenbrand, Ryan R; Miller, Jonathan J; Myers, Jason R JR; Rampersaud, Evadnie E; Rahbarinia, Delaram D; Rusch, Michael M; Wu, Gang G; Inaba, Hiroto H; Wang, Yi-Cheng YC; Alonzo, Todd A TA; Downing, James R JR; Mullighan, Charles G CG; Pounds, Stanley S; Babu, M Madan MM; Zhang, Jinghui J; Rubnitz, Jeffrey E JE; Meshinchi, Soheil S; Ma, Xiaotu X; Klco, Jeffery M JM
Publication Date: 2022-05-05

Variant appearance in text: KIT: V559A
PubMed Link: 35176137
Variant Present in the following documents:
  • bcd-21-0160_supplemental_tables_supp1-32.xlsx, sheet 18
View BVdb publication page



Phase II Study of Ponatinib in Advanced Gastrointestinal Stromal Tumors: Efficacy, Safety, and Impact of Liquid Biopsy and Other Biomarkers.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
George, Suzanne S; von Mehren, Margaret M; Fletcher, Jonathan A JA; Sun, Jichao J; Zhang, Sen S; Pritchard, Justin R JR; Hodgson, John Graeme JG; Kerstein, David D; Rivera, Victor M VM; Haluska, Frank G FG; Heinrich, Michael C MC
Publication Date: 2022-04-01

Variant appearance in text: KIT: V559A
PubMed Link: 35091442
Variant Present in the following documents:
  • ccr-21-2037_supplementary_data_supp0.pdf
View BVdb publication page



The clinical significance of adenomatous polyposis coli (APC) and catenin Beta 1 (CTNNB1) genetic aberrations in patients with melanoma.

Bmc Cancer
Karachaliou, Georgia Sofia GS; Alkallas, Rached R; Carroll, Sarah B SB; Caressi, Chongshan C; Zakria, Danny D; Patel, Nirali M NM; Trembath, Dimitri G DG; Ezzell, Jennifer A JA; Pegna, Guillaume J GJ; Googe, Paul B PB; Galeotti, Jonathan P JP; Ayvali, Fatih F; Collichio, Frances A FA; Lee, Carrie B CB; Ollila, David W DW; Gulley, Margaret L ML; Johnson, Douglas B DB; Kim, Kevin B KB; Watson, Ian R IR; Moschos, Stergios J SJ
Publication Date: 2022-01-05

Variant appearance in text: KIT: V559A
PubMed Link: 34986841
Variant Present in the following documents:
  • 12885_2021_8908_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The clinical significance of adenomatous polyposis coli (APC) and catenin Beta 1 (CTNNB1) genetic aberrations in patients with melanoma.

Bmc Cancer
Karachaliou, Georgia Sofia GS; Alkallas, Rached R; Carroll, Sarah B SB; Caressi, Chongshan C; Zakria, Danny D; Patel, Nirali M NM; Trembath, Dimitri G DG; Ezzell, Jennifer A JA; Pegna, Guillaume J GJ; Googe, Paul B PB; Galeotti, Jonathan P JP; Ayvali, Fatih F; Collichio, Frances A FA; Lee, Carrie B CB; Ollila, David W DW; Gulley, Margaret L ML; Johnson, Douglas B DB; Kim, Kevin B KB; Watson, Ian R IR; Moschos, Stergios J SJ
Publication Date: 2022-01-05

Variant appearance in text: KIT: V559A
PubMed Link: 34986841
Variant Present in the following documents:
  • 12885_2021_8908_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.

Frontiers In Cell And Developmental Biology
Feng, Yuyang Y; Yao, Surui S; Pu, Zhening Z; Cheng, Han H; Fei, Bojian B; Zou, Jian J; Huang, Zhaohui Z
Publication Date: 2021

Variant appearance in text: KIT: V559A
PubMed Link: 34805171
Variant Present in the following documents:
  • Main text
  • fcell-09-764275.pdf
View BVdb publication page



Sorafenib treatment of metastatic melanoma with c-Kit aberration reduces tumor growth and promotes survival.

Oncology Letters
Takeda, Tomoya T; Tsubaki, Masanobu M; Kato, Natsuki N; Genno, Shuji S; Ichimura, Eri E; Enomoto, Aya A; Imano, Motohiro M; Satou, Takao T; Nishida, Shozo S
Publication Date: 2021-12

Variant appearance in text: KIT: V559A
PubMed Link: 34691254
Variant Present in the following documents:
  • Main text
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: KIT: V559A
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Mucosal Melanoma: Pathological Evolution, Pathway Dependency and Targeted Therapy.

Frontiers In Oncology
Ma, Yanni Y; Xia, Ronghui R; Ma, Xuhui X; Judson-Torres, Robert L RL; Zeng, Hanlin H
Publication Date: 2021

Variant appearance in text: KIT: V559A
PubMed Link: 34350118
Variant Present in the following documents:
  • Main text
  • fonc-11-702287.pdf
View BVdb publication page



Differential Expression of CADM1 in Gastrointestinal Stromal Tumors of Different Sites and with Different Gene Abnormalities.

Pathology Oncology Research : Por
Yuan, Jiayin J; Kihara, Takako T; Kimura, Neinei N; Hashikura, Yuka Y; Ohkouchi, Mizuka M; Isozaki, Koji K; Takahashi, Tsuyoshi T; Nishida, Toshirou T; Ito, Akihiko A; Hirota, Seiichi S
Publication Date: 2021

Variant appearance in text: KIT: Val559Ala
PubMed Link: 34257559
Variant Present in the following documents:
  • Main text
  • pore-27-602008.pdf
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: KIT: V559A
PubMed Link: 34113354
Variant Present in the following documents:
  • Table_1.xlsx, sheet 26
View BVdb publication page



RTK Inhibitors in Melanoma: From Bench to Bedside.

Cancers
Sabbah, Malak M; Najem, Ahmad A; Krayem, Mohammad M; Awada, Ahmad A; Journe, Fabrice F; Ghanem, Ghanem E GE
Publication Date: 2021-04-02

Variant appearance in text: KIT: V559A
PubMed Link: 33918490
Variant Present in the following documents:
  • Main text
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: KIT: 1676T>C; V559A
PubMed Link: 33704917
Variant Present in the following documents:
  • TCA-12-1271-s003.xls, sheet 1
View BVdb publication page



Mutational characteristics of gastrointestinal stromal tumors: A single-center analysis of 302 patients.

Oncology Letters
Liang, Li L; Li, Xin X; Li, Dong D; Liu, Ping P; Nong, Lin L; Dong, Ying Y; Liu, Jumei J; Huang, Sixia S; Li, Ting T
Publication Date: 2021-02

Variant appearance in text: KIT: V559A
PubMed Link: 33552291
Variant Present in the following documents:
  • Main text
  • ol-21-02-12435.pdf
View BVdb publication page



Update on Molecular Genetics of Gastrointestinal Stromal Tumors.

Diagnostics (Basel, Switzerland)
Brčić, Iva I; Argyropoulos, Alexandra A; Liegl-Atzwanger, Bernadette B
Publication Date: 2021-01-28

Variant appearance in text: KIT: V559A
PubMed Link: 33525726
Variant Present in the following documents:
  • Main text
  • diagnostics-11-00194.pdf
View BVdb publication page



The Prognostic Impact of Circulating Tumour DNA in Melanoma Patients Treated with Systemic Therapies-Beyond BRAF Mutant Detection.

Cancers
Marsavela, Gabriela G; Johansson, Peter A PA; Pereira, Michelle R MR; McEvoy, Ashleigh C AC; Reid, Anna L AL; Robinson, Cleo C; Warburton, Lydia L; Khattak, Muhammad A MA; Meniawy, Tarek M TM; Amanuel, Benhur B; Millward, Michael M; Hayward, Nicholas K NK; Ziman, Melanie R MR; Gray, Elin S ES; Calapre, Leslie L
Publication Date: 2020-12-16

Variant appearance in text: KIT: V559A
PubMed Link: 33339135
Variant Present in the following documents:
  • cancers-12-03793-s001.pdf
View BVdb publication page



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: 1676T>C; V559A
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



A Novel Kindred with Familial Gastrointestinal Stromal Tumors Caused by a Rare KIT Germline Mutation (N655K): Clinico-Pathological Presentation and TKI Sensitivity.

Journal Of Personalized Medicine
Fornasarig, Mara M; Gasparotto, Daniela D; Foltran, Luisa L; Campigotto, Michele M; Lombardi, Sara S; Del Savio, Elisa E; Buonadonna, Angela A; Puglisi, Fabio F; Sulfaro, Sandro S; Canzonieri, Vincenzo V; Cannizzaro, Renato R; Maestro, Roberta R
Publication Date: 2020-11-17

Variant appearance in text: KIT: V559A
PubMed Link: 33212994
Variant Present in the following documents:
  • Main text
  • jpm-10-00234.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: KIT: V559A
PubMed Link: 33106165
Variant Present in the following documents:
  • 13073_2020_787_MOESM1_ESM.xlsx, sheet 9
View BVdb publication page



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: rs121913517
PubMed Link: 33051506
Variant Present in the following documents:
  • 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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: V559A
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances
Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X
Publication Date: 2020-07

Variant appearance in text: KIT: 1676T>C; Val559Ala
PubMed Link: 32832622
Variant Present in the following documents:
  • aba1773_Data_file_S1.xlsx, sheet 2
  • aba1773_Data_file_S1.xlsx, sheet 3
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Multiple gastrointestinal stromal tumors with exon 11 mutation of the c-KIT gene in a young male without family history.

International Journal Of Clinical And Experimental Pathology
Zhou, Huihui H; Sun, Di D; Liu, Ying Y; Chen, Weiyi W; Liu, Mengyao M; Xie, Chao C; Wang, Juan J
Publication Date: 2020

Variant appearance in text: KIT: 1676T>C
PubMed Link: 32782703
Variant Present in the following documents:
  • Main text
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Personalized Treatment Selection and Disease Monitoring Using Circulating Tumor DNA Profiling in Real-World Cancer Patient Management.

Diagnostics (Basel, Switzerland)
Wehrle, Julius J; Philipp, Ulrike U; Jolic, Martina M; Follo, Marie M; Hussung, Saskia S; Waldeck, Silvia S; Deuter, Max M; Rassner, Michael M; Braune, Jan J; Rawluk, Justyna J; Greil, Christine C; Waller, Cornelius F CF; Becker, Heiko H; Duque-Afonso, Jesús J; Illert, Anna-L AL; Fritsch, Ralph M RM; Meiss, Frank F; Duyster, Justus J; von Bubnoff, Nikolas N; Scherer, Florian F
Publication Date: 2020-08-02

Variant appearance in text: KIT: V559A
PubMed Link: 32748806
Variant Present in the following documents:
  • Main text
  • diagnostics-10-00550.pdf
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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: KIT: 1676T>C; V559A
PubMed Link: 32738923
Variant Present in the following documents:
  • 12967_2020_2449_MOESM1_ESM.xlsx, sheet 1
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A risk-associated Active transcriptome phenotype expressed by histologically normal human breast tissue and linked to a pro-tumorigenic adipocyte population.

Breast Cancer Research : Bcr
Kang, Taekyu T; Yau, Christina C; Wong, Christopher K CK; Sanborn, John Z JZ; Newton, Yulia Y; Vaske, Charlie C; Benz, Stephen C SC; Krings, Gregor G; Camarda, Roman R; Henry, Jill E JE; Stuart, Josh J; Powell, Mark M; Benz, Christopher C CC
Publication Date: 2020-07-31

Variant appearance in text: KIT: 1676T>C; V559A
PubMed Link: 32736587
Variant Present in the following documents:
  • 13058_2020_1322_MOESM3_ESM.xlsx, sheet 1
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Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging
Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D
Publication Date: 2020-07-07

Variant appearance in text: KIT: 1676T>C
PubMed Link: 32639949
Variant Present in the following documents:
  • aging-12-103115-s013..xlsx, sheet 1
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KIT and Melanoma: Biological Insights and Clinical Implications.

Yonsei Medical Journal
Pham, Duc Daniel M DDM; Guhan, Samantha S; Tsao, Hensin H
Publication Date: 2020-07

Variant appearance in text: KIT: V559A
PubMed Link: 32608199
Variant Present in the following documents:
  • Main text
  • ymj-61-562.pdf
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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: V559A
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
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Clinicopathologic characteristics, diagnostic clues, and prognoses of patients with multiple sporadic gastrointestinal stromal tumors: a case series and review of the literature.

Diagnostic Pathology
Shen, Yan-Ying YY; Ma, Xin-Li XL; Yang, Lin-Xi LX; Zhao, Wen-Yi WY; Tu, Lin L; Zhuang, Chun C; Ni, Bo B; Liu, Qiang Q; Wang, Ming M; Cao, Hui H
Publication Date: 2020-05-14

Variant appearance in text: KIT: V559A
PubMed Link: 32408889
Variant Present in the following documents:
  • Main text
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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: 1676T>C; V559A
PubMed Link: 32373528
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
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Analysis of C-Kit Exon 9, Exon 11 and BRAFV600E Mutations Using Sangers Sequencing in Gastrointestinal Stromal Tumours.

Cureus
Madhala, Divya D; Sundaram, Sandhya S; Chinambedudandapani, MohanaPriya M; Balasubramanian, Archana A
Publication Date: 2020-03-22

Variant appearance in text: KIT: Val559Ala
PubMed Link: 32328381
Variant Present in the following documents:
  • Main text
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Genetic Characterization of Molecular Targets in Korean Patients with Gastrointestinal Stromal Tumors.

Journal Of Gastric Cancer
Park, Joonhong J; Yoo, Han Mo HM; Sul, Hae Jung HJ; Shin, Soyoung S; Lee, Seung Woo SW; Kim, Jeong Goo JG
Publication Date: 2020-03

Variant appearance in text: KIT: 1676T>C
PubMed Link: 32269842
Variant Present in the following documents:
  • Main text
  • jgc-20-29.pdf
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Pre-analytical factors affecting the establishment of a single tube assay for multiparameter liquid biopsy detection in melanoma patients.

Molecular Oncology
Schneegans, Svenja S; Lück, Lelia L; Besler, Katharina K; Bluhm, Leonie L; Stadler, Julia-Christina JC; Staub, Janina J; Greinert, Rüdiger R; Volkmer, Beate B; Kubista, Mikael M; Gebhardt, Christoffer C; Sartori, Alexander A; Irwin, Darryl D; Serkkola, Elina E; Af Hällström, Taija T; Lianidou, Evi E; Sprenger-Haussels, Markus M; Hussong, Melanie M; Mohr, Peter P; Schneider, Stefan W SW; Shaffer, Jonathan J; Pantel, Klaus K; Wikman, Harriet H
Publication Date: 2020-05

Variant appearance in text: KIT: 1676T>C; V559A
PubMed Link: 32246814
Variant Present in the following documents:
  • Main text
  • MOL2-14-1001-s004.xlsx, sheet 1
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