KIT c.1674G>C ;(p.K558N)

Variant ID: 4-55593608-G-C

NM_000222.2(KIT):c.1674G>C;(p.K558N)

This variant was identified in 19 publications

View GRCh38 version.




Publications:


A case of midbrain germinoma: A literature review for radiographic and clinical features.

Neuro-Oncology Advances
Miyake, Yohei Y; Tateishi, Kensuke K; Oshima, Akito A; Hongo, Takeshi T; Satomi, Kaishi K; Ichimura, Koichi K; Kato, Ayumi A; Iwashita, Hiromichi H; Utsunomiya, Daisuke D; Yamamoto, Tetsuya T
Publication Date: 2023

Variant appearance in text: KIT: 1674G>C; K558N
PubMed Link: 37215953
Variant Present in the following documents:
  • Main text
  • vdad043_suppl_supplementary_tables.xlsx, sheet 1
  • vdad043.pdf
View BVdb publication page



Molecular Tailored Therapeutic Options for Advanced Gastrointestinal Stromal Tumors (GISTs): Current Practice and Future Perspectives.

Cancers
Catalano, Fabio F; Cremante, Malvina M; Dalmasso, Bruna B; Pirrone, Chiara C; Lagodin D'Amato, Agostina A; Grassi, Massimiliano M; Comandini, Danila D
Publication Date: 2023-03-30

Variant appearance in text: KIT: K558N
PubMed Link: 37046734
Variant Present in the following documents:
  • cancers-15-02074.pdf
View BVdb publication page



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: K558N
PubMed Link: 36890498
Variant Present in the following documents:
  • Main text
  • 12885_2023_Article_10684.pdf
View BVdb publication page



Patient-Derived Organoid Facilitating Personalized Medicine in Gastrointestinal Stromal Tumor With Liver Metastasis: A Case Report.

Frontiers In Oncology
Cao, Ying Y; Zhang, Xi X; Chen, Qianyun Q; Rao, Xi X; Qiu, Enming E; Wu, Gang G; Lin, Yu Y; Zeng, Ziqi Z; Zheng, Bin B; Li, Zhou Z; Cai, Zhai Z; Wang, Huaiming H; Han, Shuai S
Publication Date: 2022

Variant appearance in text: KIT: K558N
PubMed Link: 35982969
Variant Present in the following documents:
  • fonc-12-920762.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: 1674G>C; Lys558Asn; rs200375589
PubMed Link: 35257510
Variant Present in the following documents:
  • CJP2-8-395-s002.xlsx, sheet 1
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: K558N
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
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: rs200375589
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: N/A
PubMed Link: 32958805
Variant Present in the following documents:
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: KIT: K558N
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 11
View BVdb publication page



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

Cell & Bioscience
Zhu, Guangrong G; Shi, Jun J; Zhang, Shaoting S; Guo, Yue Y; Huang, Ling L; Zhao, Hui H; Jiang, Yideng Y; Sun, Jianmin J
Publication Date: 2020

Variant appearance in text: KIT: K558N
PubMed Link: 32082541
Variant Present in the following documents:
  • Main text
  • 13578_2020_Article_377.pdf
View BVdb publication page



Computational analysis reveals histotype-dependent molecular profile and actionable mutation effects across cancers.

Genome Medicine
Heim, Daniel D; Montavon, Grégoire G; Hufnagl, Peter P; Müller, Klaus-Robert KR; Klauschen, Frederick F
Publication Date: 2018-11-15

Variant appearance in text: KIT: K558N
PubMed Link: 30442178
Variant Present in the following documents:
  • 13073_2018_591_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



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

Nature Communications
Shin, Hyun-Tae HT; Choi, Yoon-La YL; Yun, Jae Won JW; Kim, Nayoung K D NKD; Kim, Sook-Young SY; Jeon, Hyo Jeong HJ; Nam, Jae-Yong JY; Lee, Chung C; Ryu, Daeun D; Kim, Sang Cheol SC; Park, Kyunghee K; Lee, Eunjin E; Bae, Joon Seol JS; Son, Dae Soon DS; Joung, Je-Gun JG; Lee, Jeeyun J; Kim, Seung Tae ST; Ahn, Myung-Ju MJ; Lee, Se-Hoon SH; Ahn, Jin Seok JS; Lee, Woo Yong WY; Oh, Bo Young BY; Park, Yeon Hee YH; Lee, Jeong Eon JE; Lee, Kwang Hyuk KH; Kim, Hee Cheol HC; Kim, Kyoung-Mee KM; Im, Young-Hyuck YH; Park, Keunchil K; Park, Peter J PJ; Park, Woong-Yang WY
Publication Date: 2017-11-09

Variant appearance in text: KIT: K558N
PubMed Link: 29123093
Variant Present in the following documents:
  • 41467_2017_1470_MOESM11_ESM.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: 1674G>C
PubMed Link: 28975118
Variant Present in the following documents:
  • SAJC-6-113.pdf
View BVdb publication page



Molecular profiling of signet ring cell colorectal cancer provides a strong rationale for genomic targeted and immune checkpoint inhibitor therapies.

British Journal Of Cancer
Alvi, Muhammad A MA; Loughrey, Maurice B MB; Dunne, Philip P; McQuaid, Stephen S; Turkington, Richard R; Fuchs, Marc-Aurel MA; McGready, Claire C; Bingham, Victoria V; Pang, Brendan B; Moore, Wendy W; Maxwell, Perry P; Lawler, Mark M; James, Jacqueline A JA; Murray, Graeme I GI; Wilson, Richard H RH; Salto-Tellez, Manuel M
Publication Date: 2017-07-11

Variant appearance in text: rs200375589
PubMed Link: 28595259
Variant Present in the following documents:
  • bjc2017168x11.xlsx, sheet 1
View BVdb publication page



Fresh surgical specimens yield breast stem/progenitor cells and reveal their oncogenic abnormalities.

Annals Of Surgical Oncology
Pommier, Suellen J SJ; Hernandez, Ariel A; Han, Esther E; Massimino, Kristen K; Muller, Patrick P; Diggs, Brian B; Chamberlain, Erin E; Murphy, Jennifer J; Hansen, Juliana J; Naik, Arpana A; Vetto, John J; Pommier, Rodney F RF
Publication Date: 2012-02

Variant appearance in text: KIT: K558N
PubMed Link: 21748247
Variant Present in the following documents:
  • 10434_2011_1892_MOESM2_ESM.pdf
View BVdb publication page



Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01

Variant appearance in text: KIT: K558N
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page



Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors.

Nature Genetics
Goriely, Anne A; Hansen, Ruth M S RM; Taylor, Indira B IB; Olesen, Inge A IA; Jacobsen, Grete Krag GK; McGowan, Simon J SJ; Pfeifer, Susanne P SP; McVean, Gilean A T GA; Rajpert-De Meyts, Ewa E; Wilkie, Andrew O M AO
Publication Date: 2009-11

Variant appearance in text: KIT: K558N
PubMed Link: 19855393
Variant Present in the following documents:
  • NIHMS27834-supplement-2.xls, sheet 1
View BVdb publication page



Is autophagy rather than apoptosis the regression driver in imatinib-treated gastrointestinal stromal tumors?

Translational Oncology
Miselli, Francesca F; Negri, Tiziana T; Gronchi, Alessandro A; Losa, Marco M; Conca, Elena E; Brich, Silvia S; Fumagalli, Elena E; Fiore, Marco M; Casali, Paolo G PG; Pierotti, Marco A MA; Tamborini, Elena E; Pilotti, Silvana S
Publication Date: 2008-12

Variant appearance in text: KIT: K558N
PubMed Link: 19043528
Variant Present in the following documents:
  • Main text
View BVdb publication page



The complexity of KIT gene mutations and chromosome rearrangements and their clinical correlation in gastrointestinal stromal (pacemaker cell) tumors.

The American Journal Of Pathology
Andersson, Johanna J; Sjögren, Helene H; Meis-Kindblom, Jeanne M JM; Stenman, Göran G; Aman, Pierre P; Kindblom, Lars-Gunnar LG
Publication Date: 2002-01

Variant appearance in text: KIT: K558N
PubMed Link: 11786393
Variant Present in the following documents:
  • Main text
View BVdb publication page