KIT c.1621A>C ;(p.M541L)

Variant ID: 4-55593464-A-C

NM_000222.2(KIT):c.1621A>C;(p.M541L)

This variant was identified in 217 publications

View GRCh38 version.




Publications:


Genomic profiles of Indonesian colorectal cancer patients.

F1000Research
Abdullah, Murdani M; Meilany, Sofy S; Trimarsanto, Hidayat H; Malik, Safarina G SG; Sukartini, Ninik N; Idrus, Firhat F; Nursyirwan, Saskia A SA; Muzellina, Virly N VN; Pribadi, Rabbinu R RR; Utari, Amanda P AP; Maulahela, Hasan H; Syam, Ari F AF
Publication Date: 2022

Variant appearance in text: KIT: M541L
PubMed Link: 37125020
Variant Present in the following documents:
  • Main text
  • f1000research-11-144370.pdf
View BVdb publication page



Targeting FGFR Pathway Is Not an Effective Therapeutic Strategy in Patients with Unselected Metastatic Esophagogastric Cancer Resistant to Trastuzumab.

Journal Of Personalized Medicine
Zecchetto, Camilla C; Quinzii, Alberto A; Casalino, Simona S; Gaule, Marina M; Pesoni, Camilla C; Merz, Valeria V; Pietrobono, Silvia S; Mangiameli, Domenico D; Pasquato, Martina M; Milleri, Stefano S; Giacopuzzi, Simone S; Bencivenga, Maria M; Tomezzoli, Anna A; de Manzoni, Giovanni G; Melisi, Davide D
Publication Date: 2023-03-11

Variant appearance in text: KIT: 1621A>C; M541L
PubMed Link: 36983691
Variant Present in the following documents:
  • Main text
  • jpm-13-00508.pdf
View BVdb publication page



Characteristics and prognosis of rrDLBCL with TP53 mutations and a high-risk subgroup represented by the co-mutations of DDX3X-TP53.

Cancer Medicine
Gao, Fan F; Hu, Kai K; Zheng, Peihao P; Shi, Hui H; Ke, Xiaoyan X
Publication Date: 2023-03-27

Variant appearance in text: KIT: 1621A>C; M541L
PubMed Link: 36971051
Variant Present in the following documents:
  • CAM4-12-10267-s001.xlsx, sheet 1
View BVdb publication page



Whole-Exome Sequencing and cfDNA Analysis Uncover Genetic Determinants of Melanoma Therapy Response in a Real-World Setting.

International Journal Of Molecular Sciences
Vanni, Irene I; Pastorino, Lorenza L; Tanda, Enrica Teresa ET; Andreotti, Virginia V; Dalmasso, Bruna B; Solari, Nicola N; Mascherini, Matteo M; Cabiddu, Francesco F; Guadagno, Antonio A; Coco, Simona S; Allavena, Eleonora E; Bruno, William W; Pietra, Gabriella G; Croce, Michela M; Gangemi, Rosaria R; Piana, Michele M; Zoppoli, Gabriele G; Ferrando, Lorenzo L; Spagnolo, Francesco F; Queirolo, Paola P; Ghiorzo, Paola P
Publication Date: 2023-02-21

Variant appearance in text: KIT: 1621A>C; Met541Leu
PubMed Link: 36901733
Variant Present in the following documents:
  • ijms-24-04302.pdf
View BVdb publication page



Primary extra-gastrointestinal stromal tumor of retroperitoneum: Clinicopathologic characteristics and prognosis of six cases.

Frontiers In Oncology
Lin, Jiaxin J; Liao, Weilin W; Wang, Jiahao J; Li, Wenjuan W; Tang, Xin X; Li, Hongming H; Yi, Xiaojiang X; Lu, Xinquan X; Chen, Zhaoyu Z; Zhu, Bosen B; Feng, Xiaochuang X; Diao, Dechang D
Publication Date: 2023

Variant appearance in text: CD117: Met541Leu
PubMed Link: 36895492
Variant Present in the following documents:
  • Main text
  • fonc-13-1033598.pdf
View BVdb publication page



Unmanipulated haploidentical hematopoietic stem cell transplantation for pediatric de novo acute megakaryoblastic leukemia without Down syndrome in China: A single-center study.

Frontiers In Oncology
Huang, Junbin J; Hu, Guanhua G; Suo, Pan P; Bai, Lu L; Cheng, Yifei Y; Wang, Yu Y; Zhang, XiaoHui X; Liu, KaiYan K; Sun, YuQian Y; Xu, LanPing L; Kong, Jun J; Yan, ChenHua C; Huang, Xiaojun X
Publication Date: 2023

Variant appearance in text: KIT: M541L
PubMed Link: 36874138
Variant Present in the following documents:
  • Main text
  • fonc-13-1116205.pdf
View BVdb publication page



c-Kit M541L variant is related to ineffective hemopoiesis predisposing to clonal evolution in 3D in vitro biomimetic co-culture model of bone marrow niche.

Heliyon
Manzo, Paola P; Scala, Pasqualina P; Giudice, Valentina V; Gorrese, Marisa M; Bertolini, Angela A; Morini, Denise D; D'Alto, Francesca F; Pepe, Rita R; Pedicini, Antonio A; Izzo, Barbara B; Verdesca, Francesco F; Langella, Maddalena M; Serio, Bianca B; Della Porta, Giovanna G; Selleri, Carmine C
Publication Date: 2022-12

Variant appearance in text: CD117: Met541Leu
PubMed Link: 36478848
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Prevalence of Molecular Alterations in a Swiss Cohort of 512 Colorectal Carcinoma Patients by Targeted Next-Generation Sequencing Analysis in Routine Diagnostics.

Pathobiology : Journal Of Immunopathology, Molecular And Cellular Biology
Haefliger, Simon S; Marston, Katharina K; Alborelli, Ilaria I; Stauffer, Edouard-Jean EJ; Gugger, Mathias M; Jermann, Philip M PM; Hoeller, Sylvia S; Tornillo, Luigi L; Terracciano, Luigi M LM; Bihl, Michel M; Matter, Matthias S MS
Publication Date: 2022-10-06

Variant appearance in text: KIT: M541L
PubMed Link: 36202073
Variant Present in the following documents:
  • pat-0090-0166-s01.pdf
View BVdb publication page



Inhibition of the Phosphatidylinositol-3 Kinase Pathway Using Bimiralisib in Loss-of-Function NOTCH1-Mutant Head and Neck Cancer.

The Oncologist
Johnson, Faye M FM; Janku, Filip F; Gouda, Mohamed A MA; Tran, Hai T HT; Kawedia, Jitesh D JD; Schmitz, Debora D; Streefkerk, Hendrik H; Lee, J Jack JJ; Andersen, Clark R CR; Deng, Defeng D; Rawal, Seema S; Shah, Pooja A PA; El-Naggar, Adel K AK; Johnson, Jason M JM; Frederick, Mitchell J MJ
Publication Date: 2022-09-16

Variant appearance in text: KIT: M541L
PubMed Link: 36124629
Variant Present in the following documents:
  • Main text
  • oyac185.pdf
View BVdb publication page



Genomic Landscape Alterations in Primary Tumor and Matched Lymph Node Metastasis in Hormone-Naïve Prostate Cancer Patients.

Cancers
Russo, Giorgio Ivan GI; Bonacci, Paolo P; Bivona, Dalida D; Privitera, Grete Francesca GF; Broggi, Giuseppe G; Caltabiano, Rosario R; Vella, Jessica J; Lo Giudice, Arturo A; Asmundo, Maria Giovanna MG; Cimino, Sebastiano S; Morgia, Giuseppe G; Stefani, Stefania S; Musso, Nicolò N
Publication Date: 2022-08-30

Variant appearance in text: rs3822214
PubMed Link: 36077746
Variant Present in the following documents:
  • cancers-14-04212.pdf
View BVdb publication page



A Genomically and Clinically Annotated Patient-Derived Xenograft Resource for Preclinical Research in Non-Small Cell Lung Cancer.

Cancer Research
Woo, Xing Yi XY; Srivastava, Anuj A; Mack, Philip C PC; Graber, Joel H JH; Sanderson, Brian J BJ; Lloyd, Michael W MW; Chen, Mandy M; Domanskyi, Sergii S; Gandour-Edwards, Regina R; Tsai, Rebekah A RA; Keck, James J; Cheng, Mingshan M; Bundy, Margaret M; Jocoy, Emily L EL; Riess, Jonathan W JW; Holland, William W; Grubb, Stephen C SC; Peterson, James G JG; Stafford, Grace A GA; Paisie, Carolyn C; Neuhauser, Steven B SB; Karuturi, R Krishna Murthy RKM; George, Joshy J; Simons, Allen K AK; Chavaree, Margaret M; Tepper, Clifford G CG; Goodwin, Neal N; Airhart, Susan D SD; Lara, Primo N PN; Openshaw, Thomas H TH; Liu, Edison T ET; Gandara, David R DR; Bult, Carol J CJ
Publication Date: 2022-11-15

Variant appearance in text: N/A
PubMed Link: 36069866
Variant Present in the following documents:
View BVdb publication page



Genetic landscapes and curative effect of CAR T-cell immunotherapy in relapse and refractory DLBCL patients.

Blood Advances
Shi, Hui H; Zheng, Peihao P; Liu, Rui R; Xu, Teng T; Yang, Fan F; Feng, Shaomei S; Guo, Yuelu Y; Ma, Lixia L; Liu, Haidi H; Lei, Yang Y; Li, Ruiting R; Deng, Biping B; Hou, Shuling S; Li, Yang Y; Zheng, Qinlong Q; Hu, Kai K; Ke, Xiaoyan X
Publication Date: 2022-07-28

Variant appearance in text: KIT: 1621A>C; M541L
PubMed Link: 35901280
Variant Present in the following documents:
  • Main text
  • BLOODA_ADV-2021-006845-mmc1.xlsx, sheet 2
  • main.pdf
View BVdb publication page



Targeted Next-Generation Sequencing of Thymic Epithelial Tumours Revealed Pathogenic Variants in KIT, ERBB2, KRAS, and TP53 in 30% of Thymic Carcinomas.

Cancers
Szpechcinski, Adam A; Szolkowska, Malgorzata M; Winiarski, Sebastian S; Lechowicz, Urszula U; Wisniewski, Piotr P; Knetki-Wroblewska, Magdalena M
Publication Date: 2022-07-12

Variant appearance in text: KIT: 1621A>C; rs3822214
PubMed Link: 35884448
Variant Present in the following documents:
  • Main text
  • cancers-14-03388.pdf
View BVdb publication page



Molecular Profiling of Kenyan Acute Myeloid Leukemia Patients.

Frontiers In Genetics
Gatua, Mercy M; Navari, Mohsen M; Ong'ondi, Matilda M; Onyango, Noel N; Kaggia, Serah S; Rogena, Emily E; Visani, Giuseppe G; Abinya, Nicholas A NA; Piccaluga, Pier Paolo PP
Publication Date: 2022

Variant appearance in text: KIT: 1621A>C; M541L
PubMed Link: 35836575
Variant Present in the following documents:
  • DataSheet1.xlsx, sheet 2
View BVdb publication page



Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A
Publication Date: 2022-08-15

Variant appearance in text: N/A
PubMed Link: 35653148
Variant Present in the following documents:
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: 1621A>C; Met541Leu
PubMed Link: 35547262
Variant Present in the following documents:
  • DataSheet1.xlsx, sheet 2
View BVdb publication page



Establishment of patient-derived organoids and a characterization-based drug discovery platform for treatment of pancreatic cancer.

Bmc Cancer
Watanabe, Sadanori S; Yogo, Akitada A; Otsubo, Tsuguteru T; Umehara, Hiroki H; Oishi, Jun J; Kodo, Toru T; Masui, Toshihiko T; Takaishi, Shigeo S; Seno, Hiroshi H; Uemoto, Shinji S; Hatano, Etsuro E
Publication Date: 2022-05-03

Variant appearance in text: KIT: 1621A>C; Met541Leu; rs3822214
PubMed Link: 35505283
Variant Present in the following documents:
  • 12885_2022_9619_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Integrated genomic analyses identify high-risk factors and actionable targets in T-cell acute lymphoblastic leukemia.

Blood Science (Baltimore, Md.)
Zhu, Haichuan H; Dong, Bingjie B; Zhang, Yingchi Y; Wang, Mei M; Rao, Jianan J; Cui, Bowen B; Liu, Yu Y; Jiang, Qian Q; Wang, Weitao W; Yang, Lu L; Yu, Anqi A; Li, Zongru Z; Liu, Chao C; Zhang, Leping L; Huang, Xiaojun X; Zhu, Xiaofan X; Wu, Hong H
Publication Date: 2022-01

Variant appearance in text: N/A
PubMed Link: 35399540
Variant Present in the following documents:
View BVdb publication page



Next-Generation Sequencing in Lung Cancer Patients: A Comparative Approach in NSCLC and SCLC Mutational Landscapes.

Journal Of Personalized Medicine
Pop-Bica, Cecilia C; Ciocan, Cristina Alexandra CA; Braicu, Cornelia C; Haranguș, Antonia A; Simon, Marioara M; Nutu, Andreea A; Pop, Laura Ancuta LA; Slaby, Ondrej O; Atanasov, Atanas G AG; Pirlog, Radu R; Al Hajjar, Nadim N; Berindan-Neagoe, Ioana I
Publication Date: 2022-03-13

Variant appearance in text: KIT: 1621A>C; Met541Leu; rs3822214
PubMed Link: 35330454
Variant Present in the following documents:
  • Main text
  • jpm-12-00453.pdf
View BVdb publication page



Bacillus Calmette-Guérin Treatment Changes the Tumor Microenvironment of Non-Muscle-Invasive Bladder Cancer.

Frontiers In Oncology
Su, Fei F; Liu, Ming M; Zhang, Wei W; Tang, Min M; Zhang, Jinsong J; Li, Hexin H; Zou, Lihui L; Zhang, Rui R; Liu, Yudong Y; Li, Lin L; Ma, Jie J; Zhang, Yaqun Y; Chen, Meng M; Xiao, Fei F
Publication Date: 2022

Variant appearance in text: KIT: M541L
PubMed Link: 35311085
Variant Present in the following documents:
  • Table_1.xlsx, sheet 4
View BVdb publication page



Detection of genetic mutations in patients with breast cancer from Saudi Arabia using Ion AmpliSeq™ Cancer Hotspot Panel v.2.0.

Biomedical Reports
Messaoudi, Safia A SA; Al Sharhan, Nourah A NA; Alharthi, Bandar B; Babu, Saranya R SR; Alsaleh, Abrar B AB; Alasiri, Alanoud M AM; Assidi, Mourad M; Buhmeida, Abdelbaset A; Almawi, Wassim Y WY
Publication Date: 2022-04

Variant appearance in text: KIT: 1621A>C; Met541Leu
PubMed Link: 35251613
Variant Present in the following documents:
  • br-16-04-01509.pdf
View BVdb publication page



Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology
Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S
Publication Date: 2022-03-05

Variant appearance in text: KIT: 1621A>C; Met541Leu; rs3822214
PubMed Link: 35246724
Variant Present in the following documents:
  • 432_2022_3944_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Role of IGF2 in the Study of Development and Evolution of Prostate Cancer.

Frontiers In Genetics
Porras-Quesada, P P; González-Cabezuelo, J M JM; Sánchez-Conde, V V; Puche-Sanz, I I; Arenas-Rodríguez, V V; García-López, C C; Flores-Martín, J F JF; Molina-Hernández, J M JM; Álvarez-Cubero, M J MJ; Martínez-González, L J LJ; Vázquez-Alonso, F F
Publication Date: 2021

Variant appearance in text: KIT: 1621A>C; rs3822214
PubMed Link: 35095996
Variant Present in the following documents:
  • Main text
  • fgene-12-740641.pdf
View BVdb publication page



Broad spectrum of regorafenib activity on mutant KIT and absence of clonal selection in gastrointestinal stromal tumor (GIST): correlative analysis from the GRID trial.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Jeffers, Michael M; Kappeler, Christian C; Kuss, Iris I; Beckmann, Georg G; Mehnert, Daniel H DH; Fredebohm, Johannes J; Teufel, Michael M
Publication Date: 2022-05

Variant appearance in text: KIT: 1621A>C; M541L; rs3822214
PubMed Link: 35050442
Variant Present in the following documents:
  • Main text
  • 10120_2021_Article_1274.pdf
View BVdb publication page



Genetic Landscape of Relapsed and Refractory Diffuse Large B-Cell Lymphoma: A Systemic Review and Association Analysis With Next-Generation Sequencing.

Frontiers In Genetics
Gao, Fan F; Tian, Lei L; Shi, Hui H; Zheng, Peihao P; Wang, Jing J; Dong, Fei F; Hu, Kai K; Ke, Xiaoyan X
Publication Date: 2021

Variant appearance in text: KIT: 1621A>C; M541L
PubMed Link: 34925435
Variant Present in the following documents:
  • DataSheet2.xlsx, sheet 1
View BVdb publication page



Proteogenomics of non-small cell lung cancer reveals molecular subtypes associated with specific therapeutic targets and immune evasion mechanisms.

Nature Cancer
Lehtiö, Janne J; Arslan, Taner T; Siavelis, Ioannis I; Pan, Yanbo Y; Socciarelli, Fabio F; Berkovska, Olena O; Umer, Husen M HM; Mermelekas, Georgios G; Pirmoradian, Mohammad M; Jönsson, Mats M; Brunnström, Hans H; Brustugun, Odd Terje OT; Purohit, Krishna Pinganksha KP; Cunningham, Richard R; Foroughi Asl, Hassan H; Isaksson, Sofi S; Arbajian, Elsa E; Aine, Mattias M; Karlsson, Anna A; Kotevska, Marija M; Gram Hansen, Carsten C; Drageset Haakensen, Vilde V; Helland, Åslaug Å; Tamborero, David D; Johansson, Henrik J HJ; Branca, Rui M RM; Planck, Maria M; Staaf, Johan J; Orre, Lukas M LM
Publication Date: 2021-11

Variant appearance in text: KIT: 1621A>C; Met541Leu
PubMed Link: 34870237
Variant Present in the following documents:
  • EMS133264-supplement-Supplementary_Tables.xlsx, sheet 9
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: M541L
PubMed Link: 34805171
Variant Present in the following documents:
  • Main text
  • fcell-09-764275.pdf
View BVdb publication page



Combined multimodal ctDNA analysis and radiological imaging for tumor surveillance in Non-small cell lung cancer.

Translational Oncology
Metzenmacher, Martin M; Hegedüs, Balazs B; Forster, Jan J; Schramm, Alexander A; Horn, Peter A PA; Klein, Christoph A CA; Bielefeld, Nicola N; Ploenes, Till T; Aigner, Clemens C; Theegarten, Dirk D; Schildhaus, Hans-Ulrich HU; Siveke, Jens T JT; Schuler, Martin M; Lueong, Smiths S SS
Publication Date: 2022-01

Variant appearance in text: KIT: 1621A>C; Met541Leu; rs3822214
PubMed Link: 34800919
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Combined multimodal ctDNA analysis and radiological imaging for tumor surveillance in Non-small cell lung cancer.

Translational Oncology
Metzenmacher, Martin M; Hegedüs, Balazs B; Forster, Jan J; Schramm, Alexander A; Horn, Peter A PA; Klein, Christoph A CA; Bielefeld, Nicola N; Ploenes, Till T; Aigner, Clemens C; Theegarten, Dirk D; Schildhaus, Hans-Ulrich HU; Siveke, Jens T JT; Schuler, Martin M; Lueong, Smiths S SS
Publication Date: 2021-11-17

Variant appearance in text: KIT: 1621A>C; Met541Leu; rs3822214
PubMed Link: 34800919
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Pancreatic Cancer-Related Mutational Burden Is Not Increased in a Patient Cohort With Clinically Severe Chronic Pancreatitis.

Clinical And Translational Gastroenterology
Cowan, Robert W RW; Pratt, Erica D ED; Kang, Jin Muk JM; Zhao, Jun J; Wilhelm, Joshua J JJ; Abdulla, Muhamad M; Qiao, Edmund M EM; Brennan, Luke P LP; Ulintz, Peter J PJ; Bellin, Melena D MD; Rhim, Andrew D AD
Publication Date: 2021-11-18

Variant appearance in text: KIT: 1621A>C; M541L; rs3822214
PubMed Link: 34797250
Variant Present in the following documents:
  • ct9-12-e00431-s005.xlsx, sheet 1
  • ct9-12-e00431-s006.xlsx, sheet 1
View BVdb publication page



Integrative Genomic Analysis of Pediatric Myeloid-Related Acute Leukemias Identifies Novel Subtypes and Prognostic Indicators.

Blood Cancer Discovery
Fornerod, Maarten M; Ma, Jing J; Noort, Sanne S; Liu, Yu Y; Walsh, Michael P MP; Shi, Lei L; Nance, Stephanie S; Liu, Yanling Y; Wang, Yuanyuan Y; Song, Guangchun G; Lamprecht, Tamara T; Easton, John J; Mulder, Heather L HL; Yergeau, Donald D; Myers, Jacquelyn J; Kamens, Jennifer L JL; Obeng, Esther A EA; Pigazzi, Martina M; Jarosova, Marie M; Kelaidi, Charikleia C; Polychronopoulou, Sophia S; Lamba, Jatinder K JK; Baker, Sharyn D SD; Rubnitz, Jeffrey E JE; Reinhardt, Dirk D; van den Heuvel-Eibrink, Marry M MM; Locatelli, Franco F; Hasle, Henrik H; Klco, Jeffery M JM; Downing, James R JR; Zhang, Jinghui J; Pounds, Stanley S; Zwaan, C Michel CM; Gruber, Tanja A TA; , ; , ; , ; , ; , ; ,
Publication Date: 2021-11

Variant appearance in text: N/A
PubMed Link: 34778799
Variant Present in the following documents:
View BVdb publication page



Blast cells surviving acute myeloid leukemia induction therapy are in cycle with a signature of FOXM1 activity.

Bmc Cancer
Williams, Mark S MS; Basma, Naseer J NJ; Amaral, Fabio M R FMR; Wiseman, Daniel H DH; Somervaille, Tim C P TCP
Publication Date: 2021-10-28

Variant appearance in text: N/A
PubMed Link: 34711181
Variant Present in the following documents:
View BVdb publication page



Calibration-free NGS quantitation of mutations below 0.01% VAF.

Nature Communications
Dai, Peng P; Wu, Lucia Ruojia LR; Chen, Sherry Xi SX; Wang, Michael Xiangjiang MX; Cheng, Lauren Yuxuan LY; Zhang, Jinny Xuemeng JX; Hao, Pengying P; Yao, Weijie W; Zarka, Jabra J; Issa, Ghayas C GC; Kwong, Lawrence L; Zhang, David Yu DY
Publication Date: 2021-10-21

Variant appearance in text: KIT: 1621A>C; M541L
PubMed Link: 34675197
Variant Present in the following documents:
  • 41467_2021_26308_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Combined CTLA-4 and PD-L1 blockade in patients with chemotherapy-naïve metastatic castration-resistant prostate cancer is associated with increased myeloid and neutrophil immune subsets in the bone microenvironment.

Journal For Immunotherapy Of Cancer
Subudhi, Sumit K SK; Siddiqui, Bilal A BA; Aparicio, Ana M AM; Yadav, Shalini S SS; Basu, Sreyashi S; Chen, Hong H; Jindal, Sonali S; Tidwell, Rebecca S S RSS; Varma, Ashwin A; Logothetis, Christopher J CJ; Allison, James P JP; Corn, Paul G PG; Sharma, Padmanee P
Publication Date: 2021-10

Variant appearance in text: KIT: M541L
PubMed Link: 34663638
Variant Present in the following documents:
  • jitc-2021-002919supp002.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: KIT: M541L
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Circulating TP53 mutations are associated with early tumor progression and poor survival in pancreatic cancer patients treated with FOLFIRINOX.

Therapeutic Advances In Medical Oncology
van der Sijde, Fleur F; Azmani, Zakia Z; Besselink, Marc G MG; Bonsing, Bert A BA; de Groot, Jan Willem B JWB; Groot Koerkamp, Bas B; Haberkorn, Brigitte C M BCM; Homs, Marjolein Y V MYV; van IJcken, Wilfred F J WFJ; Janssen, Quisette P QP; Lolkema, Martijn P MP; Luelmo, Saskia A C SAC; Mekenkamp, Leonie J M LJM; Mustafa, Dana A M DAM; van Schaik, Ron H N RHN; Wilmink, Johanna W JW; Vietsch, Eveline E EE; van Eijck, Casper H J CHJ
Publication Date: 2021

Variant appearance in text: N/A
PubMed Link: 34422118
Variant Present in the following documents:
View BVdb publication page



Molecular Pathology and Targeted Therapies for Personalized Management of Central Nervous System Germinoma.

Journal Of Personalized Medicine
Ilcus, Cristina C; Silaghi, Horatiu H; Georgescu, Carmen Emanuela CE; Georgiu, Carmen C; Ciurea, Anca Ileana AI; Nicoara, Simona Delia SD; Silaghi, Cristina Alina CA
Publication Date: 2021-07-14

Variant appearance in text: KIT: 1621A>C; M541L
PubMed Link: 34357128
Variant Present in the following documents:
  • Main text
  • jpm-11-00661.pdf
View BVdb publication page



Assessing Genetic Variants in Matched Biocompartments From Patients With Serous Ovarian Cancer.

Technology In Cancer Research & Treatment
Sanders, Brooke E BE; Ku, Lisa L; Walker, Paul P; Bitler, Benjamin G BG
Publication Date: 2021

Variant appearance in text: KIT: M541L
PubMed Link: 34169762
Variant Present in the following documents:
  • Main text
View BVdb publication page



DNA-PK inhibitor peposertib enhances p53-dependent cytotoxicity of DNA double-strand break inducing therapy in acute leukemia.

Scientific Reports
Haines, Eric E; Nishida, Yuki Y; Carr, Michael I MI; Montoya, Rafael Heinz RH; Ostermann, Lauren B LB; Zhang, Weiguo W; Zenke, Frank T FT; Blaukat, Andree A; Andreeff, Michael M; Vassilev, Lyubomir T LT
Publication Date: 2021-06-09

Variant appearance in text: KIT: M541L
PubMed Link: 34108527
Variant Present in the following documents:
  • 41598_2021_90500_MOESM1_ESM.pdf
View BVdb publication page



Sensitivity, specificity, and accuracy of a liquid biopsy approach utilizing molecular amplification pools.

Scientific Reports
Garcia, Jessica J; Kamps-Hughes, Nick N; Geiguer, Florence F; Couraud, Sébastien S; Sarver, Brice B; Payen, Léa L; Ionescu-Zanetti, Cristian C
Publication Date: 2021-05-24

Variant appearance in text: KIT: 1621A>C; M541L
PubMed Link: 34031447
Variant Present in the following documents:
  • 41598_2021_89592_MOESM1_ESM.xlsx, sheet 3
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A Phase I Trial of the MET/ALK/ROS1 Inhibitor Crizotinib Combined with the VEGF Inhibitor Pazopanib in Patients with Advanced Solid Malignancies.

Oncotargets And Therapy
Piha-Paul, Sarina A SA; Dumbrava, Ecaterina E EE; Nair, Binoj C BC; Xiong, Wendy W; Xu, Li L; Mostorino, Rosa R; Subbiah, Vivek V; Tannir, Nizar N; Fu, Siqing S; Naing, Aung A; Janku, Filip F; Karp, Daniel D DD; Patel, Shreyaskumar S; Daw, Najat C NC; Hong, David D; Meric-Bernstam, Funda F; Zinner, Ralph R
Publication Date: 2021

Variant appearance in text: KIT: M541L
PubMed Link: 33994796
Variant Present in the following documents:
  • Main text
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The shifting landscape of genetic alterations separating endometriosis and ovarian endometrioid carcinoma.

American Journal Of Cancer Research
Gaia-Oltean, Adriana I AI; Pop, Laura A LA; Cojocneanu, Roxana M RM; Buse, Mihail M; Zimta, Andreea A AA; Kubelac, Paul P; Irimie, Alexandru A; Coza, Ovidiu F OF; Roman, Horace H; Berindan-Neagoe, Ioana I
Publication Date: 2021

Variant appearance in text: KIT: 1621A>C; rs3822214
PubMed Link: 33948387
Variant Present in the following documents:
  • Main text
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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: N/A
PubMed Link: 33795819
Variant Present in the following documents:
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Triple-Negative Essential Thrombocythemia: Clinical-Pathological and Molecular Features. A Single-Center Cohort Study.

Frontiers In Oncology
Cattaneo, Daniele D; Croci, Giorgio Alberto GA; Bucelli, Cristina C; Tabano, Silvia S; Cannone, Marta Giulia MG; Gaudioso, Gabriella G; Barbanti, Maria Chiara MC; Barbullushi, Kordelia K; Bianchi, Paola P; Fermo, Elisa E; Fabris, Sonia S; Baldini, Luca L; Gianelli, Umberto U; Iurlo, Alessandra A
Publication Date: 2021

Variant appearance in text: KIT: 1621A>C; M541L
PubMed Link: 33791220
Variant Present in the following documents:
  • Main text
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The Clinical and Pathological Characteristics of Malignant Struma Ovarii: An Analysis of 144 Published Patients.

Frontiers In Oncology
Cui, Yuying Y; Yao, Jinming J; Wang, Shengnan S; Zhao, Junyu J; Dong, Jianjun J; Liao, Lin L
Publication Date: 2021

Variant appearance in text: KIT: 1621A>C; M541L
PubMed Link: 33763376
Variant Present in the following documents:
  • Main text
  • fonc-11-645156.pdf
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Safety and activity of vandetanib in combination with everolimus in patients with advanced solid tumors: a phase I study.

Esmo Open
Cascone, T T; Sacks, R L RL; Subbiah, I M IM; Drobnitzky, N N; Piha-Paul, S A SA; Hong, D S DS; Hess, K R KR; Amini, B B; Bhatt, T T; Fu, S S; Naing, A A; Janku, F F; Karp, D D; Falchook, G S GS; Conley, A P AP; Sherman, S I SI; Meric-Bernstam, F F; Ryan, A J AJ; Heymach, J V JV; Subbiah, V V
Publication Date: 2021-04

Variant appearance in text: KIT: M541L
PubMed Link: 33721621
Variant Present in the following documents:
  • Main text
  • main.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: 1621A>C; M541L
PubMed Link: 33704917
Variant Present in the following documents:
  • TCA-12-1271-s003.xls, sheet 1
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The emerging clinical relevance of genomic profiling in neuroendocrine tumours.

Bmc Cancer
Burak, Guney Isa GI; Ozge, Sonmezler S; Cem, Mujde M; Gulgun, Buyukdereli B; Zeynep, Dogruca Yapar DY; Atil, Bisgin B
Publication Date: 2021-03-06

Variant appearance in text: KIT: M541L
PubMed Link: 33676450
Variant Present in the following documents:
  • Main text
  • 12885_2021_Article_7961.pdf
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Comparison of Open-access Databases for Clinical Variant Interpretation in Cancer: A Case Study of MDS/AML.

Cancer Genomics & Proteomics
Banck, Henrik H; Dugas, Martin M; MÜller-Tidow, Carsten C; Sandmann, Sarah S
Publication Date: 2021

Variant appearance in text: N/A
PubMed Link: 33608312
Variant Present in the following documents:
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Role of next generation sequencing-based liquid biopsy in advanced non-small cell lung cancer patients treated with immune checkpoint inhibitors: impact of STK11, KRAS and TP53 mutations and co-mutations on outcome.

Translational Lung Cancer Research
Pavan, Alberto A; Bragadin, Andrea Boscolo AB; Calvetti, Lorenzo L; Ferro, Alessandra A; Zulato, Elisabetta E; Attili, Ilaria I; Nardo, Giorgia G; Dal Maso, Alessandro A; Frega, Stefano S; Menin, Andrea Giovanni AG; Fassan, Matteo M; Calabrese, Fiorella F; Pasello, Giulia G; Guarneri, Valentina V; Aprile, Giuseppe G; Conte, PierFranco P; Rosell, Rafael R; Indraccolo, Stefano S; Bonanno, Laura L
Publication Date: 2021-01

Variant appearance in text: N/A
PubMed Link: 33569305
Variant Present in the following documents:
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