KIT c.1674_1676del ;(p.K558_V559delinsN)

Variant ID: 4-55593608-AGGT-A

NM_000222.2(KIT):c.1674_1676del;(p.K558_V559delinsN)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


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: K558_V559delinsN
PubMed Link: 35547262
Variant Present in the following documents:
  • DataSheet1.xlsx, sheet 1
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: K558_V559delinsN
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; 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: K558_V559delinsN
PubMed Link: 34616493
Variant Present in the following documents:
  • Main text
  • 10.1177_17588359211049779.pdf
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: K558_V559delinsN
PubMed Link: 33673554
Variant Present in the following documents:
  • Main text
  • cancers-13-00993.pdf
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: 1674_1676delGGT; K558_V559delinsN
PubMed Link: 32373528
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
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: 1674_1676del; Lys558del
PubMed Link: 32236636
Variant Present in the following documents:
  • Supplementary_Data.pdf
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: K558_V559delinsN
PubMed Link: 31238586
Variant Present in the following documents:
  • Main text
  • cancers-11-00882.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: 1674_1676delGGT
PubMed Link: 28179366
Variant Present in the following documents:
  • supp_gr.213546.116_Supplemental_Table_S7.xlsx, sheet 1
View BVdb publication page