KIT c.1669_1674del ;(p.W557_K558del)

Variant ID: 4-55593600-CAGTGGA-C

NM_000222.2(KIT):c.1669_1674del;(p.W557_K558del)

This variant was identified in 54 publications

View GRCh38 version.




Publications:


Utilization of cytologic cell blocks for targeted sequencing of solid tumors.

Cancer Medicine
Vormittag-Nocito, Erica E; Kumar, Ravindra R; Narayan, Kunwar Digvijay KD; Chen, Zhengjia Z; David, Odile O; Behm, Frederick F; Mohapatra, Gayatry G
Publication Date: 2022-09-20

Variant appearance in text: KIT: W557_K558del
PubMed Link: 36125633
Variant Present in the following documents:
  • Main text
  • CAM4-12-4042.pdf
  • CAM4-12-4042-s001.xlsx, sheet 1
View BVdb publication page



Correlation of treatment outcome in sanger/RT‑qPCR KIT/PDGFRA wild‑type metastatic gastrointestinal stromal tumors with next‑generation sequencing results: A single‑center report.

Oncology Reports
Unk, Mojca M; Bombač, Alenka A; Jezeršek Novaković, Barbara B; Stegel, Vida V; Šetrajčič Dragoš, Vita V; Blatnik, Olga O; Klančar, Gašper G; Novaković, Srdjan S
Publication Date: 2022-09

Variant appearance in text: KIT: 1669_1674del
PubMed Link: 35904169
Variant Present in the following documents:
  • or-48-03-08382.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: W557_K558del
PubMed Link: 35547262
Variant Present in the following documents:
  • DataSheet1.xlsx, sheet 1
View BVdb publication page



Circulating Tumor DNA Mutations in Progressive Gastrointestinal Stromal Tumors Identify Biomarkers of Treatment Resistance and Uncover Potential Therapeutic Strategies.

Frontiers In Oncology
Ko, Tun Kiat TK; Lee, Elizabeth E; Ng, Cedric Chuan-Young CC; Yang, Valerie Shiwen VS; Farid, Mohamad M; Teh, Bin Tean BT; Chan, Jason Yongsheng JY; Somasundaram, Nagavalli N
Publication Date: 2022

Variant appearance in text: KIT: 1669_1674del
PubMed Link: 35273917
Variant Present in the following documents:
  • Main text
  • fonc-12-840843.pdf
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: 1667_1672del
PubMed Link: 34805171
Variant Present in the following documents:
  • Main text
  • fcell-09-764275.pdf
View BVdb publication page



Not all KIT 557/558 codons mutations have the same prognostic influence on recurrence-free survival: breaking the exon 11 mutations in gastrointestinal stromal tumors (GISTs).

Therapeutic Advances In Medical Oncology
Incorvaia, Lorena L; Badalamenti, Giuseppe G; Fanale, Daniele D; Vincenzi, Bruno B; Luca, Ida De I; Algeri, Laura L; Barraco, Nadia N; Brando, Chiara C; Bonasera, Annalisa A; Bono, Marco M; Castiglia, Marta M; Cancelliere, Daniela D; Cani, Massimiliano M; Rita Corsini, Lidia L; Fiorino, Alessia A; Galvano, Antonio A; Pedone, Erika E; Perez, Alessandro A; Pivetti, Alessia A; Graceffa, Giuseppa G; Pantuso, Gianni G; Cabibi, Daniela D; Russo, Antonio A; Bazan, Viviana V
Publication Date: 2021

Variant appearance in text: KIT: W557_K558del
PubMed Link: 34616493
Variant Present in the following documents:
  • Main text
  • 10.1177_17588359211049779.pdf
View BVdb publication page



Not all KIT 557/558 codons mutations have the same prognostic influence on recurrence-free survival: breaking the exon 11 mutations in gastrointestinal stromal tumors (GISTs).

Therapeutic Advances In Medical Oncology
Incorvaia, Lorena L; Badalamenti, Giuseppe G; Fanale, Daniele D; Vincenzi, Bruno B; Luca, Ida De I; Algeri, Laura L; Barraco, Nadia N; Brando, Chiara C; Bonasera, Annalisa A; Bono, Marco M; Castiglia, Marta M; Cancelliere, Daniela D; Cani, Massimiliano M; Corsini, Lidia Rita LR; Fiorino, Alessia A; Galvano, Antonio A; Pedone, Erika E; Perez, Alessandro A; Pivetti, Alessia A; Graceffa, Giuseppa G; Pantuso, Gianni G; Cabibi, Daniela D; Russo, Antonio A; Bazan, Viviana V
Publication Date: 2021

Variant appearance in text: KIT: W557_K558del
PubMed Link: 34616493
Variant Present in the following documents:
  • Main text
  • 10.1177_17588359211049779.pdf
View BVdb publication page



Somatic mutations in lymphocytes in patients with immune-mediated aplastic anemia.

Leukemia
Lundgren, Sofie S; Keränen, Mikko A I MAI; Kankainen, Matti M; Huuhtanen, Jani J; Walldin, Gunilla G; Kerr, Cassandra M CM; Clemente, Michael M; Ebeling, Freja F; Rajala, Hanna H; Brück, Oscar O; Lähdesmäki, Harri H; Hannula, Sari S; Hannunen, Tiina T; Ellonen, Pekka P; Young, Neal S NS; Ogawa, Seishi S; Maciejewski, Jaroslaw P JP; Hellström-Lindberg, Eva E; Mustjoki, Satu S
Publication Date: 2021-05

Variant appearance in text: KIT: W557_K558del
PubMed Link: 33785863
Variant Present in the following documents:
  • 41375_2021_1231_MOESM3_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: KIT: 1669_1674delTGGAAG; W557_K558del
PubMed Link: 33704917
Variant Present in the following documents:
  • TCA-12-1271-s003.xls, sheet 1
View BVdb publication page



Type and Gene Location of KIT Mutations Predict Progression-Free Survival to First-Line Imatinib in Gastrointestinal Stromal Tumors: A Look into the Exon.

Cancers
Incorvaia, Lorena L; Fanale, Daniele D; Vincenzi, Bruno B; De Luca, Ida I; Bartolotta, Tommaso Vincenzo TV; Cannella, Roberto R; Pantuso, Gianni G; Cabibi, Daniela D; Russo, Antonio A; Bazan, Viviana V; Badalamenti, Giuseppe G
Publication Date: 2021-02-27

Variant appearance in text: KIT: W557_K558del
PubMed Link: 33673554
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gastrointestinal stromal tumor with multisegmental spinal metastases as first presentation: A case report and review of the literature.

World Journal Of Clinical Cases
Kong, Yan Y; Ma, Xiao-Wei XW; Zhang, Qian-Qian QQ; Zhao, Yi Y; Feng, He-Lin HL
Publication Date: 2021-02-26

Variant appearance in text: CD117: W557_K558del
PubMed Link: 33644220
Variant Present in the following documents:
  • Main text
  • WJCC-9-1490.pdf
View BVdb publication page



Targeted Deep Sequencing Reveals Unrecognized KIT Mutation Coexistent with NF1 Deficiency in GISTs.

Cancer Management And Research
Wu, Jinchun J; Zhou, Haiyan H; Yi, Xiaoping X; He, Qiongzhi Q; Lei, Tianxiang T; Tan, Fengbo F; Liu, Heli H; Li, Bin B
Publication Date: 2021

Variant appearance in text: KIT: 1669_1674delTGGAAG
PubMed Link: 33469372
Variant Present in the following documents:
  • Main text
  • cmar-13-297.pdf
View BVdb publication page



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: 1669_1674delTGGAAG; W557_K558del
PubMed Link: 32738923
Variant Present in the following documents:
  • 12967_2020_2449_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Exon 11 homozygous mutations and intron 10/exon 11 junction deletions in the KIT gene are associated with poor prognosis of patients with gastrointestinal stromal tumors.

Cancer Medicine
Shen, Yan-Ying YY; Ma, Xin-Li XL; Wang, Ming M; Zhuang, Chun C; Ni, Bo B; Tu, Lin L; Liu, Qiang Q; Zhao, Wen-Yi WY; Cao, Hui H
Publication Date: 2020-09

Variant appearance in text: KIT: W557_K558del
PubMed Link: 32697050
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prognostic Indicators for Gastrointestinal Stromal Tumors: A Review.

Translational Oncology
Zhang, Haixin H; Liu, Qi Q
Publication Date: 2020-10

Variant appearance in text: KIT: W557_K558del
PubMed Link: 32619820
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: W557_K558del
PubMed Link: 32408889
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 1669_1674delTGGAAG; W557_K558del
PubMed Link: 32373528
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



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: 1669_1674delTGGAAG
PubMed Link: 32328381
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive routine diagnostic screening to identify predictive mutations, gene amplifications, and microsatellite instability in FFPE tumor material.

Bmc Cancer
Steeghs, Elisabeth M P EMP; Kroeze, Leonie I LI; Tops, Bastiaan B J BBJ; van Kempen, Leon C LC; Ter Elst, Arja A; Kastner-van Raaij, Annemiek W M AWM; Hendriks-Cornelissen, Sandra J B SJB; Hermsen, Mandy J W MJW; Jansen, Erik A M EAM; Nederlof, Petra M PM; Schuuring, Ed E; Ligtenberg, Marjolijn J L MJL; Eijkelenboom, Astrid A
Publication Date: 2020-04-07

Variant appearance in text: KIT: 1669_1674del
PubMed Link: 32264863
Variant Present in the following documents:
  • 12885_2020_6785_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Mutational spectrum and classification of novel mutations in patients with metastatic gastrointestinal stromal tumours.

International Journal Of Oncology
Bombac, Alenka A; Zakotnik, Branko B; Bucic, Marina M; Setrajcic Dragos, Vita V; Gazic, Barbara B; Stegel, Vida V; Klancar, Gasper G; Novakovic, Srdjan S
Publication Date: 2020-06

Variant appearance in text: KIT: 1667_1672del
PubMed Link: 32236636
Variant Present in the following documents:
  • Supplementary_Data.pdf
View BVdb publication page



KIT and PDGFRa mutational patterns in Sardinian patients with gastrointestinal stromal tumors.

European Journal Of Cancer Prevention : The Official Journal Of The European Cancer Prevention Organisation (Ecp)
Palomba, Grazia G; Paliogiannis, Panagiotis P; Sini, Maria C MC; Colombino, Maria M; Casula, Milena M; Manca, Antonella A; Pisano, Marina M; Sotgiu, Giovanni G; Doneddu, Valentina V; Palmieri, Giuseppe G; Cossu, Antonio A
Publication Date: 2021-01

Variant appearance in text: KIT: 1669_1674delTGGAAG; Trp557_Lys558del
PubMed Link: 32091431
Variant Present in the following documents:
  • ejcp-30-53-s001.pdf
View BVdb publication page



Clinico-Pathological Characteristics and Mutational Analysis of Gastrointestinal Stromal Tumors from India: A Single Institution Experience.

Asian Pacific Journal Of Cancer Prevention : Apjcp
Minhas, Sachin S; Bhalla, Sunita S; Jauhri, Mayank M; Ganvir, Madhusudan M; Aggarwal, Shyam S
Publication Date: 2019-10-01

Variant appearance in text: KIT: Trp557_Lys558del
PubMed Link: 31653154
Variant Present in the following documents:
  • Main text
  • APJCP-20-3051.pdf
View BVdb publication page



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

Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
Publication Date: 2019-11

Variant appearance in text: KIT: Trp557_Lys558del
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM14_ESM.xlsx, sheet 1
  • 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Driver gene alterations and activated signaling pathways toward malignant progression of gastrointestinal stromal tumors.

Cancer Science
Ohshima, Keiichi K; Fujiya, Keiichi K; Nagashima, Takeshi T; Ohnami, Sumiko S; Hatakeyama, Keiichi K; Urakami, Kenichi K; Naruoka, Akane A; Watanabe, Yuko Y; Moromizato, Sachi S; Shimoda, Yuji Y; Ohnami, Shumpei S; Serizawa, Masakuni M; Akiyama, Yasuto Y; Kusuhara, Masatoshi M; Mochizuki, Tohru T; Sugino, Takashi T; Shiomi, Akio A; Tsubosa, Yasuhiro Y; Uesaka, Katsuhiko K; Terashima, Masanori M; Yamaguchi, Ken K
Publication Date: 2019-12

Variant appearance in text: KIT: 1669_1674delTGGAAG; W557_K558del
PubMed Link: 31553483
Variant Present in the following documents:
  • CAS-110-3821-s008.xlsx, sheet 1
  • CAS-110-3821-s012.xlsx, sheet 1
  • CAS-110-3821-s012.xlsx, sheet 2
  • CAS-110-3821-s009.xlsx, sheet 1
View BVdb publication page



Molecular Comparison of Imatinib-Naïve and Resistant Gastrointestinal Stromal Tumors: Differentially Expressed microRNAs and mRNAs.

Cancers
Amirnasr, Azadeh A; Gits, Caroline M M CMM; van Kuijk, Patricia F PF; Smid, Marcel M; Vriends, Anne L M ALM; Rutkowski, Piotr P; Sciot, Raf R; Schöffski, Patrick P; Debiec-Rychter, Maria M; Sleijfer, Stefan S; Wiemer, Erik A C EAC
Publication Date: 2019-06-24

Variant appearance in text: KIT: 1669_1674del; W557_K558del
PubMed Link: 31238586
Variant Present in the following documents:
  • Main text
View BVdb publication page



The assessment of minimal residual disease versus that of somatic mutations for predicting the outcome of acute myeloid leukemia patients.

Cancer Cell International
Salehzadeh, Serena S; Guerrini, Francesca F; Pizzano, Umberto U; Grassi, Susanna S; Ciabatti, Elena E; Iovino, Lorenzo L; Buda, Gabriele G; Caracciolo, Francesco F; Benedetti, Edoardo E; Orciuolo, Enrico E; Pelosini, Matteo M; Consani, Giovanni G; Carulli, Giovanni G; Metelli, Maria Rita MR; Martini, Francesca F; Mazziotta, Francesco F; Mazzantini, Elisa E; Rossi, Pietro P; Tavarozzi, Rita R; Ricci, Federica F; Petrini, Mario M; Galimberti, Sara S
Publication Date: 2019

Variant appearance in text: KIT: 1667_1672delAGTGGA; W557_K558del
PubMed Link: 30992690
Variant Present in the following documents:
  • Main text
  • 12935_2019_Article_807.pdf
View BVdb publication page



Preferential MGMT methylation could predispose a subset of KIT/PDGFRA-WT GISTs, including SDH-deficient ones, to respond to alkylating agents.

Clinical Epigenetics
Ricci, Riccardo R; Martini, Maurizio M; Ravegnini, Gloria G; Cenci, Tonia T; Milione, Massimo M; Lanza, Paola P; Pierconti, Francesco F; Santini, Donatella D; Angelini, Sabrina S; Biondi, Alberto A; Rosa, Fausto F; Alfieri, Sergio S; Clemente, Gennaro G; Persiani, Roberto R; Cassano, Alessandra A; Pantaleo, Maria A MA; Larocca, Luigi M LM
Publication Date: 2019-01-07

Variant appearance in text: KIT: 1669_1674delTGGAAG
PubMed Link: 30616628
Variant Present in the following documents:
  • Main text
  • 13148_2018_Article_594.pdf
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: KIT: 1669_1674delTGGAAG; W557_K558del
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: KIT: 1669_1674delTGGAAG; W557_K558del
PubMed Link: 29659903
Variant Present in the following documents:
  • hyy052supplementaltable1ionver1.xls, sheet 1
View BVdb publication page



Comprehensive molecular screening by next generation sequencing reveals a distinctive mutational profile of KIT/PDGFRA genes and novel genomic alterations: results from a 20-year cohort of patients with GIST from north-western Greece.

Esmo Open
Mavroeidis, Leonidas L; Metaxa-Mariatou, Vassiliki V; Papoudou-Bai, Alexandra A; Lampraki, Angeliki Maria AM; Kostadima, Lida L; Tsinokou, Ilias I; Zarkavelis, George G; Papadaki, Alexandra A; Petrakis, Dimitrios D; Gκoura, Stefania S; Kampletsas, Eleftherios E; Nasioulas, George G; Batistatou, Anna A; Pentheroudakis, George G
Publication Date: 2018

Variant appearance in text: KIT: 1669_1674delTGGAAG
PubMed Link: 29636989
Variant Present in the following documents:
  • Main text
  • esmoopen-2018-000335.pdf
View BVdb publication page



A single digital droplet PCR assay to detect multiple KIT exon 11 mutations in tumor and plasma from patients with gastrointestinal stromal tumors.

Oncotarget
Boonstra, Pieter A PA; Ter Elst, Arja A; Tibbesma, Marco M; Bosman, Lisette J LJ; Mathijssen, Ron R; Atrafi, Florence F; van Coevorden, Frits F; Steeghs, Neeltje N; Farag, Sheima S; Gelderblom, Hans H; van der Graaf, Winette T A WTA; Desar, Ingrid M E IME; Maier, Jacqueline J; Overbosch, Jelle J; Suurmeijer, Albert J H AJH; Gietema, Jourik J; Schuuring, Ed E; Reyners, Anna K L AKL
Publication Date: 2018-03-02

Variant appearance in text: KIT: 1669_1674delTGGAAG
PubMed Link: 29568401
Variant Present in the following documents:
  • Main text
  • oncotarget-09-13870.pdf
View BVdb publication page



Characterization of malignant gastrointestinal stromal tumors-a single center experience.

Journal Of Gastrointestinal Oncology
Mandrioli, Matteo M; Mastrangelo, Laura L; Masetti, Michele M; Zanini, Nicola N; Lega, Stefania S; Nannini, Margherita M; Gruppioni, Elisa E; Altimari, Annalisa A; Dei Tos, Angelo Paolo AP; Fabbri, Carlo C; Jovine, Elio E
Publication Date: 2017-12

Variant appearance in text: KIT: 1669_1674del
PubMed Link: 29299364
Variant Present in the following documents:
  • Main text
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: KIT: 1669_1674delTGGAAG; W557_K558del
PubMed Link: 29161613
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Unraveling the spectrum of KIT mutations in gastrointestinal stromal tumors: An Indian Tertiary Cancer Center Experience.

South Asian Journal Of Cancer
Pai, Trupti T; Bal, Munita M; Shetty, Omshree O; Gurav, Mamta M; Ostwal, Vikas V; Ramaswamy, Anant A; Ramadwar, Mukta M; Desai, Sangeeta S
Publication Date: 2017

Variant appearance in text: KIT: 1669_1674delTGGAAG
PubMed Link: 28975118
Variant Present in the following documents:
  • Main text
  • SAJC-6-113.pdf
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: KIT: 1669_1674delTGGAAG; W557_K558del
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Succinate dehydrogenase deficiency in a PDGFRA mutated GIST.

Bmc Cancer
Belinsky, Martin G MG; Cai, Kathy Q KQ; Zhou, Yan Y; Luo, Biao B; Pei, Jianming J; Rink, Lori L; von Mehren, Margaret M
Publication Date: 2017-08-02

Variant appearance in text: KIT: W557_K558del
PubMed Link: 28768491
Variant Present in the following documents:
  • Main text
  • 12885_2017_Article_3499.pdf
View BVdb publication page



Effect of KIT and PDGFRA Mutations on Survival in Patients With Gastrointestinal Stromal Tumors Treated With Adjuvant Imatinib: An Exploratory Analysis of a Randomized Clinical Trial.

Jama Oncology
Joensuu, Heikki H; Wardelmann, Eva E; Sihto, Harri H; Eriksson, Mikael M; Sundby Hall, Kirsten K; Reichardt, Annette A; Hartmann, Jörg T JT; Pink, Daniel D; Cameron, Silke S; Hohenberger, Peter P; Al-Batran, Salah-Eddin SE; Schlemmer, Marcus M; Bauer, Sebastian S; Nilsson, Bengt B; Kallio, Raija R; Junnila, Jouni J; Vehtari, Aki A; Reichardt, Peter P
Publication Date: 2017-05-01

Variant appearance in text: KIT: Trp557_Lys558del
PubMed Link: 28334365
Variant Present in the following documents:
  • Main text
View BVdb publication page



GIST Manifesting as a Retroperitoneal Tumor: Clinicopathologic Immunohistochemical, and Molecular Genetic Study of 112 Cases.

The American Journal Of Surgical Pathology
Miettinen, Markku M; Felisiak-Golabek, Anna A; Wang, Zengfeng Z; Inaguma, Shingo S; Lasota, Jerzy J
Publication Date: 2017-05

Variant appearance in text: KIT: Trp557_Lys558del
PubMed Link: 28288036
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 1669_1674delTGGAAG; W557_K558del
PubMed Link: 28179366
Variant Present in the following documents:
  • supp_gr.213546.116_Supplemental_Table_S7.xlsx, sheet 1
View BVdb publication page



Diagnostic value of H3F3A mutations in giant cell tumour of bone compared to osteoclast-rich mimics.

The Journal Of Pathology. Clinical Research
Presneau, Nadège N; Baumhoer, Daniel D; Behjati, Sam S; Pillay, Nischalan N; Tarpey, Patrick P; Campbell, Peter J PJ; Jundt, Gernot G; Hamoudi, Rifat R; Wedge, David C DC; Loo, Peter Van PV; Hassan, A Bassim AB; Khatri, Bhavisha B; Ye, Hongtao H; Tirabosco, Roberto R; Amary, M Fernanda MF; Flanagan, Adrienne M AM
Publication Date: 2015-04

Variant appearance in text: KIT: W557_K558del
PubMed Link: 27499898
Variant Present in the following documents:
  • CJP2-1-113-s004.xlsx, sheet 1
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Transanal minimally invasive surgery (TAMIS) approach for large juxta-anal gastrointestinal stromal tumour.

Journal Of Minimal Access Surgery
Wachter, Nicolas N; Wörns, Marcus-Alexander MA; Dos Santos, Daniel Pinto DP; Lang, Hauke H; Huber, Tobias T; Kneist, Werner W
Publication Date: 2016

Variant appearance in text: KIT: 1669_1674del; W557_K558del
PubMed Link: 27279406
Variant Present in the following documents:
  • Main text
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Integrated digital error suppression for improved detection of circulating tumor DNA.

Nature Biotechnology
Newman, Aaron M AM; Lovejoy, Alexander F AF; Klass, Daniel M DM; Kurtz, David M DM; Chabon, Jacob J JJ; Scherer, Florian F; Stehr, Henning H; Liu, Chih Long CL; Bratman, Scott V SV; Say, Carmen C; Zhou, Li L; Carter, Justin N JN; West, Robert B RB; Sledge, George W GW; Shrager, Joseph B JB; Loo, Billy W BW; Neal, Joel W JW; Wakelee, Heather A HA; Diehn, Maximilian M; Alizadeh, Ash A AA
Publication Date: 2016-05

Variant appearance in text: KIT: 1669_1674delTGGAAG; W557_K558del
PubMed Link: 27018799
Variant Present in the following documents:
  • NIHMS764326-supplement-6.xlsx, sheet 1
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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: KIT: 1669_1674delTGGAAG; W557_K558del
PubMed Link: 26527317
Variant Present in the following documents:
  • oncotarget-06-43731-s002.xlsx, sheet 1
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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: KIT: W557_K558del
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 1
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Pharmacogenomics in the clinic.

Nature
Relling, Mary V MV; Evans, William E WE
Publication Date: 2015-10-15

Variant appearance in text: KIT: Trp557_Lys558del
PubMed Link: 26469045
Variant Present in the following documents:
  • Main text
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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: KIT: 1669_1674delTGGAAG; W557_K558del
PubMed Link: 26296973
Variant Present in the following documents:
  • oncotarget-06-25619-s003.xls, sheet 1
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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: KIT: 1669_1674delTGGAAG; W557_K558del
PubMed Link: 26009992
Variant Present in the following documents:
  • oncotarget-06-24499-s002.xlsx, sheet 1
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Massively parallel sequencing fails to detect minor resistant subclones in tissue samples prior to tyrosine kinase inhibitor therapy.

Bmc Cancer
Heydt, Carina C; Kumm, Niklas N; Fassunke, Jana J; Künstlinger, Helen H; Ihle, Michaela Angelika MA; Scheel, Andreas A; Schildhaus, Hans-Ulrich HU; Haller, Florian F; Büttner, Reinhard R; Odenthal, Margarete M; Wardelmann, Eva E; Merkelbach-Bruse, Sabine S
Publication Date: 2015-04-15

Variant appearance in text: KIT: W557_K558del
PubMed Link: 25886408
Variant Present in the following documents:
  • Main text
  • 12885_2015_Article_1311.pdf
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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: KIT: W557_K558del
PubMed Link: 25523272
Variant Present in the following documents:
  • 12885_2014_5198_MOESM14_ESM.xlsx, sheet 1
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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: KIT: 1669_1674delTGGAAG; W557_K558del
PubMed Link: 25372287
Variant Present in the following documents:
  • pone.0111693.s003.xls, sheet 1
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Frequent KIT mutations in human gastrointestinal stromal tumors.

Scientific Reports
Xu, Zhi Z; Huo, Xinying X; Tang, Chuanning C; Ye, Hua H; Nandakumar, Vijayalakshmi V; Lou, Feng F; Zhang, Dandan D; Jiang, Shouwen S; Sun, Hong H; Dong, Haichao H; Zhang, Guangchun G; Liu, Zhiyuan Z; Dong, Zhishou Z; Guo, Baishuai B; Yan, He H; Yan, Chaowei C; Wang, Lu L; Su, Ziyi Z; Li, Yangyang Y; Gu, Dongying D; Zhang, Xiaojing X; Wu, Xiaomin X; Wei, Xiaowei X; Hong, Lingzhi L; Zhang, Yangmei Y; Yang, Jinsong J; Gong, Yonglin Y; Tang, Cuiju C; Jones, Lindsey L; Huang, Xue F XF; Chen, Si-Yi SY; Chen, Jinfei J
Publication Date: 2014-08-01

Variant appearance in text: KIT: 1669_1674del
PubMed Link: 25080996
Variant Present in the following documents:
  • Main text
View BVdb publication page