KIT c.1670_1678del ;(p.W557_V560delinsF)

Variant ID: 4-55593604-TGGAAGGTTG-T

NM_000222.2(KIT):c.1670_1678del;(p.W557_V560delinsF)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Validation and clinical application of a targeted next-generation sequencing gene panel for solid and hematologic malignancies.

Peerj
Prieto-Potin, Iván I; Carvajal, Nerea N; Plaza-Sánchez, Jenifer J; Manso, Rebeca R; Aúz-Alexandre, Carmen Laura CL; Chamizo, Cristina C; Zazo, Sandra S; López-Sánchez, Almudena A; Rodríguez-Pinilla, Socorro María SM; Camacho, Laura L; Longarón, Raquel R; Bellosillo, Beatriz B; Somoza, Rosa R; Hernández-Losa, Javier J; Fernández-Soria, Víctor Manuel VM; Ramos-Ruiz, Ricardo R; Cristóbal, Ion I; García-Foncillas, Jesús J; Rojo, Federico F
Publication Date: 2020

Variant appearance in text: KIT: 1670_1678delGGAAGGTTG; Trp557_Val560delinsPhe
PubMed Link: 33083132
Variant Present in the following documents:
  • peerj-08-10069-s013.xlsx, sheet 1
  • peerj-08-10069-s012.xlsx, sheet 1
  • peerj-08-10069-s010.xlsx, sheet 1
  • peerj-08-10069-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: W557_V560delinsF
PubMed Link: 31238586
Variant Present in the following documents:
  • Main text
  • cancers-11-00882.pdf
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: 1670_1678delGGAAGGTTG
PubMed Link: 28975118
Variant Present in the following documents:
  • SAJC-6-113.pdf
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: 1670_1678del; W557_V559del
PubMed Link: 28179366
Variant Present in the following documents:
  • supp_gr.213546.116_Supplemental_Table_S7.xlsx, sheet 1
View BVdb publication page



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: 1670_1678del
PubMed Link: 25080996
Variant Present in the following documents:
  • srep05907-s1.pdf
View BVdb publication page