DisGeNET - a database of gene-disease associations

Gastrointestinal Stromal Tumors, C0238198

Variant: rs121913516 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121913516

KIT

0.750

GeneticVariation

BEFREE

In addition, it could inhibit imatinib resistant cKIT T670I and V654A mutants in vitro and in vivo GIST preclinical models.

31205508

2019

dbSNP:

rs121913516

KIT

0.750

GeneticVariation

BEFREE

Compound 24 displays good antiproliferative effects against c-KIT T670I mutant-driven GIST cell lines (GIST-T1/T670I and GIST-5R) and also exhibits suitable in vivo pharmacokinetic profiles as well as dose-dependent antitumor efficacy.

31046271

2019

dbSNP:

rs121913516

KIT

0.750

GeneticVariation

BEFREE

These were PDX models harboring primary and secondary KIT and additional mutations; KIT exon 11 (p.Y570_L576del), KIT exon 17 (p.D816E), and PTEN (p.T321fs) mutations in GIST-RX1 from a patient who was unresponsive to imatinib, sunitinib, and sorafenib, and KIT exon 11 (p.K550_splice) and KIT exon 14 (p.T670I) mutations in GIST-RX2 and KIT exon 9 (p.502_503insYA) and KIT exon 17 (p.D820E) mutations in GIST-RX4 from patients with imatinib and imatinib/sunitinib resistance, respectively.

29100343

2017

dbSNP:

rs121913516

KIT

0.750

GeneticVariation

BEFREE

Compound 35 displayed strong antiproliferative effect against GISTs cancer cell lines GIST-T1 (cKIT wt, GI50 = 4 nM) and GIST-5R (cKIT T670I, GI50 = 26 nM).

27545040

2016

dbSNP:

rs121913516

KIT

0.750

GeneticVariation

CLINVAR

KRAS and KIT Gatekeeper Mutations Confer Polyclonal Primary Imatinib Resistance in GI Stromal Tumors: Relevance of Concomitant Phosphatidylinositol 3-Kinase/AKT Dysregulation.

24687822

2015

dbSNP:

rs121913516

KIT

0.750

GeneticVariation

CLINVAR

Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

25157968

2014

dbSNP:

rs121913516

KIT

0.750

GeneticVariation

BEFREE

Herein, by introducing adaptive elements into the inhibitor core structure, we undertake the structure-based development of type II hybrid inhibitors to overcome gatekeeper drug-resistant mutations in cSrc-T338M, as well as clinically relevant tyrosine kinase KIT-T670I and Abl-T315I variants, as essential targets in gastrointestinal stromal tumors (GISTs) and chronic myelogenous leukemia (CML).

23773153

2013

dbSNP:

rs121913516

KIT

0.750

GeneticVariation

CLINVAR

Secondary c-Kit mutations confer acquired resistance to RTK inhibitors in c-Kit mutant melanoma cells.

23582185

2013

dbSNP:

rs121913516

KIT

0.750

GeneticVariation

CLINVAR

Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis.

21689725

2011

dbSNP:

rs121913516

KIT

0.750

GeneticVariation

CLINVAR

Juxtamembrane-type c-kit gene mutation found in aggressive systemic mastocytosis induces imatinib-resistant constitutive KIT activation.

17259998

2007

dbSNP:

rs121913516

KIT

0.750

GeneticVariation

CLINVAR

GIST cells carrying KIT -del557-558/T670I or KIT -InsAY502-503/V654A mutations were resistant to imatinib, while PKC412 significantly inhibited autophosporylation of these mutants.

15685537

2005

dbSNP:

rs121913516

KIT

0.750

GeneticVariation

CLINVAR

A new mutation in the KIT ATP pocket causes acquired resistance to imatinib in a gastrointestinal stromal tumor patient.

15236194

2004