KIT c.1654_1659del ;(p.M552_Y553del)

Variant ID: 4-55593588-CATGTAT-C

NM_000222.2(KIT):c.1654_1659del;(p.M552_Y553del)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


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: 1654_1659del
PubMed Link: 35273917
Variant Present in the following documents:
  • Main text
  • fonc-12-840843.pdf
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: 1654_1659delATGTAT; M552_Y553del
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: M552_Y553del
PubMed Link: 33673554
Variant Present in the following documents:
  • Main text
  • cancers-13-00993.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: 1654_1659delATGTAT; Met552_Tyr553del
PubMed Link: 32091431
Variant Present in the following documents:
  • ejcp-30-53-s001.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: 1654_1659delATGTAT; M552_Y553del
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Circulating tumour DNA sequence analysis as an alternative to multiple myeloma bone marrow aspirates.

Nature Communications
Kis, Olena O; Kaedbey, Rayan R; Chow, Signy S; Danesh, Arnavaz A; Dowar, Mark M; Li, Tiantian T; Li, Zhihua Z; Liu, Jessica J; Mansour, Mark M; Masih-Khan, Esther E; Zhang, Tong T; Bratman, Scott V SV; Oza, Amit M AM; Kamel-Reid, Suzanne S; Trudel, Suzanne S; Pugh, Trevor J TJ
Publication Date: 2017-05-11

Variant appearance in text: KIT: M552_Y553del
PubMed Link: 28492226
Variant Present in the following documents:
  • ncomms15086-s1.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: 1654_1659delATGTAT; M552_Y553del
PubMed Link: 28179366
Variant Present in the following documents:
  • supp_gr.213546.116_Supplemental_Table_S7.xlsx, sheet 1
View BVdb publication page



Overexpression of insulin-like growth factor 1 receptor and frequent mutational inactivation of SDHA in wild-type SDHB-negative gastrointestinal stromal tumors.

Genes, Chromosomes & Cancer
Belinsky, Martin G MG; Rink, Lori L; Flieder, Douglas B DB; Jahromi, Mona S MS; Schiffman, Joshua D JD; Godwin, Andrew K AK; von Mehren, Margaret M
Publication Date: 2013-02

Variant appearance in text: KIT: Met552_Tyr553del
PubMed Link: 23109135
Variant Present in the following documents:
  • Main text
View BVdb publication page