KIT V560G

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Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Chronic Myeloid Leukemia, BCR-ABL1 Positive2
KIT V560G	Bosutinib	Predictive	D	Supports Sensitivity Response	—	submitted	EID4134 In an in vitro study, the recombinant KIT V560G mutation kinase was associated with increased sensitivity to bosutinib treatment (IC50: 181nM), as compared to wild-type KIT kinase (IC50: 6313nM). Sens… (full text at CIViC) PMID 19039322 · Remsing Rix et al., 2009 · Open in CIViC	civic
KIT V560G	Dasatinib	Predictive	D	Supports Sensitivity Response	—	submitted	EID4135 In an in vitro study, the recombinant KIT V560G mutation kinase was associated with increased sensitivity to dasatinib treatment (IC50: 1.5nM vs 93.0nM), as compared to wild-type KIT kinase. Sensitivi… (full text at CIViC) PMID 19039322 · Remsing Rix et al., 2009 · Open in CIViC

Molecular profile

Therapy

Type

Level

Direction · significance

Rating (1–5)

Status

Evidence

Source

Chronic Myeloid Leukemia, BCR-ABL1 Positive2

KIT V560G

Bosutinib

Predictive

Supports Sensitivity Response

—

submitted

EID4134

In an in vitro study, the recombinant KIT V560G mutation kinase was associated with increased sensitivity to bosutinib treatment (IC50: 181nM), as compared to wild-type KIT kinase (IC50: 6313nM). Sens… (full text at CIViC)

PMID 19039322 · Remsing Rix et al., 2009 · Open in CIViC

civic

KIT V560G

Dasatinib

Predictive

Supports Sensitivity Response

—

submitted

EID4135

In an in vitro study, the recombinant KIT V560G mutation kinase was associated with increased sensitivity to dasatinib treatment (IC50: 1.5nM vs 93.0nM), as compared to wild-type KIT kinase. Sensitivi… (full text at CIViC)

PMID 19039322 · Remsing Rix et al., 2009 · Open in CIViC

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
375916	-	-	—	Gastrointestinal stromal tumor; Central nervous system germ cell tumor	somatic	2	—	clinvar

Variation

Clinical significance

Review status

Stars

Conditions

Origin

Submitters

Last evaluated

Source

375916

—

Gastrointestinal stromal tumor; Central nervous system germ cell tumor

somatic

—

clinvar

Gastrointestinal Stromal Tumor7
KIT V560G	Imatinib	Predictive	D	Supports Sensitivity Response	—	submitted	EID2467 Molecular models predict that deletion of a portion of the juxtamembrane domain relieves steric hindrance and results in higher binding affinity for imatinib. PMID 21364689 · Pierotti et al., 2011 · Open in CIViC	civic
KIT V560G	Imatinib	Predictive	D	Supports Sensitivity Response	—	submitted	EID2470 Molecular models predict that deletion of a portion of the juxtamembrane domain relieves steric hindrance and results in higher binding affinity for imatinib. PMID 21364689 · Pierotti et al., 2011 · Open in CIViC	civic
KIT V560G	Imatinib + Ponatinib + RegorafenibSubstitutes	Predictive	D	Supports Sensitivity Response	3	accepted	EID7395 In an in vitro kinase study, a KIT V560G primary activating mutant kinase demonstrated sensitivity to imatinib (IC50: 38nmol/L vs. 640nmol/L), regorafenib (IC50: 27nmol/L vs. 533nmol/L), and ponatinib… (full text at CIViC) PMID 25239608 · Garner et al., 2014 · Open in CIViC	civic
KIT V560G	Imatinib + Ponatinib + Regorafenib Anhydrous	Predictive	D	Supports Sensitivity Response	3	rejected	EID7394 In an in vitro kinase study, a KIT V560G primary activating mutant kinase demonstrated sensitivity to imatinib (IC50: 38nmol/L), regorafenib (IC50: 27nmol/L), and ponatinib (IC50: 0.3nmol/L) treatment… (full text at CIViC) PMID 25239608 · Garner et al., 2014 · Open in CIViC	civic
KIT V560G	Sunitinib	Predictive	C	Supports Resistance	—	submitted	EID4129 In a phase 1/2 trial of 97 gastrointestinal stromal tumor patients, patients with KIT exon 11 mutations (44/77) treated with sunitinib were associated with shorter progression free survival (5.1mo vs.… (full text at CIViC) PMID 18955458 · Heinrich et al., 2008 · Open in CIViC	civic
KIT V560G	Sunitinib	Predictive	C	Supports Resistance	—	submitted	EID4130 In a retrospective study of 1124 sunitinib-treated gastrointestinal stromal tumor patients, patients with primary KIT exon 11 mutations (n=143) were associated with decreased progression free surviva… (full text at CIViC) PMID 26772734 · Reichardt et al., 2016 · Open in CIViC	civic
KIT V560G	Sunitinib	Predictive	E	Supports Sensitivity Response	2	rejected	EID7396 In an in vitro kinase study, a KIT V560G primary activating mutant kinase demonstrated sensitivity to sunitinib (IC50: 154nmol/L vs. 110nmol/L) treatments. It is assumed that the native KIT mutation i… (full text at CIViC) PMID 25239608 · Garner et al., 2014 · Open in CIViC	civic

Gastrointestinal Stromal Tumor7

KIT V560G

Imatinib

Predictive

Supports Sensitivity Response

—

submitted

EID2467

Molecular models predict that deletion of a portion of the juxtamembrane domain relieves steric hindrance and results in higher binding affinity for imatinib.

PMID 21364689 · Pierotti et al., 2011 · Open in CIViC

civic

KIT V560G

Imatinib

Predictive

Supports Sensitivity Response

—

submitted

EID2470

Molecular models predict that deletion of a portion of the juxtamembrane domain relieves steric hindrance and results in higher binding affinity for imatinib.

PMID 21364689 · Pierotti et al., 2011 · Open in CIViC

civic

KIT V560G

Imatinib + Ponatinib + RegorafenibSubstitutes

Predictive

Supports Sensitivity Response

accepted

EID7395

In an in vitro kinase study, a KIT V560G primary activating mutant kinase demonstrated sensitivity to imatinib (IC50: 38nmol/L vs. 640nmol/L), regorafenib (IC50: 27nmol/L vs. 533nmol/L), and ponatinib… (full text at CIViC)

PMID 25239608 · Garner et al., 2014 · Open in CIViC

civic

KIT V560G

Imatinib + Ponatinib + Regorafenib Anhydrous

Predictive

Supports Sensitivity Response

rejected

EID7394

In an in vitro kinase study, a KIT V560G primary activating mutant kinase demonstrated sensitivity to imatinib (IC50: 38nmol/L), regorafenib (IC50: 27nmol/L), and ponatinib (IC50: 0.3nmol/L) treatment… (full text at CIViC)

PMID 25239608 · Garner et al., 2014 · Open in CIViC

civic

KIT V560G

Sunitinib

Predictive

Supports Resistance

—

submitted

EID4129

In a phase 1/2 trial of 97 gastrointestinal stromal tumor patients, patients with KIT exon 11 mutations (44/77) treated with sunitinib were associated with shorter progression free survival (5.1mo vs.… (full text at CIViC)

PMID 18955458 · Heinrich et al., 2008 · Open in CIViC

civic

KIT V560G

Sunitinib

Predictive

Supports Resistance

—

submitted

EID4130

In a retrospective study of 1124 sunitinib-treated gastrointestinal stromal tumor patients, patients with primary KIT exon 11 mutations (n=143) were associated with decreased progression free surviva… (full text at CIViC)

PMID 26772734 · Reichardt et al., 2016 · Open in CIViC

civic

KIT V560G

Sunitinib

Predictive

Supports Sensitivity Response

rejected

EID7396

In an in vitro kinase study, a KIT V560G primary activating mutant kinase demonstrated sensitivity to sunitinib (IC50: 154nmol/L vs. 110nmol/L) treatments. It is assumed that the native KIT mutation i… (full text at CIViC)

PMID 25239608 · Garner et al., 2014 · Open in CIViC

civic

Malignant Neoplasm1
KIT V560G	Imatinib	Predictive	D	Does Not Support Resistance	2	accepted	EID2469 In an in vitro study of imatinib sensitivity, KIT V560G was cloned into a plasmid by site-directed mutagenesis of KIT WT cDNA. Chinese hamster ovary cells were transiently transfected with the plasmid… (full text at CIViC) PMID 14645423 · Heinrich et al., 2003 · Open in CIViC	civic

Malignant Neoplasm1

KIT V560G

Imatinib

Predictive

Does Not Support Resistance

accepted

EID2469

In an in vitro study of imatinib sensitivity, KIT V560G was cloned into a plasmid by site-directed mutagenesis of KIT WT cDNA. Chinese hamster ovary cells were transiently transfected with the plasmid… (full text at CIViC)

PMID 14645423 · Heinrich et al., 2003 · Open in CIViC

civic

Systemic Mastocytosis2
NOT KIT D816V AND ( KIT V560G OR KIT D816Y OR KIT D816F )	Imatinib Mesylate	Predictive	B	Supports Sensitivity Response	3	submitted	EID11163 In this phase IV clinical trial, ten patients with systemic mastocystosis (SM) were recruited to test efficacy and safety of imatinib. Nine patients fulfilled criteria for well-differentiated SM (WDSM… (full text at CIViC) PMID 28978170 · Alvarez-Twose et al., 2017 · Open in CIViC	civic
NOT KIT D816V AND ( KIT V560G OR KIT D816Y OR KIT D816F )	Imatinib Mesylate	Predictive	D	Supports Sensitivity Response	3	submitted	EID11162 In this preclinical study, two subclones of human mast cell leukemia line were used to investigate cellular response to KIT inhibitor STI571. HMC1.1 cell line expressing only the KIT V560G mutation an… (full text at CIViC) PMID 11861291 · Ma et al., 2002 · Open in CIViC	civic

Systemic Mastocytosis2

NOT KIT D816V AND ( KIT V560G OR KIT D816Y OR KIT D816F )

Imatinib Mesylate

Predictive

Supports Sensitivity Response

submitted

EID11163

In this phase IV clinical trial, ten patients with systemic mastocystosis (SM) were recruited to test efficacy and safety of imatinib. Nine patients fulfilled criteria for well-differentiated SM (WDSM… (full text at CIViC)

PMID 28978170 · Alvarez-Twose et al., 2017 · Open in CIViC

civic

NOT KIT D816V AND ( KIT V560G OR KIT D816Y OR KIT D816F )

Imatinib Mesylate

Predictive

Supports Sensitivity Response

submitted

EID11162

In this preclinical study, two subclones of human mast cell leukemia line were used to investigate cellular response to KIT inhibitor STI571. HMC1.1 cell line expressing only the KIT V560G mutation an… (full text at CIViC)

PMID 11861291 · Ma et al., 2002 · Open in CIViC

civic

Unmapped disease1unmapped disease
NOT KIT D816V AND ( KIT V560G OR KIT D816Y OR KIT D816F )	(functional)	Functional	D	Supports Gain Of Function	2	submitted	EID11161 In this preclinical study, two subclones of human mast cell leukemia line were used to investigate cellular response to KIT inhibitor STI571. HMC1.1 cell line expressing only the KIT V560G mutation an… (full text at CIViC) PMID 11861291 · Ma et al., 2002 · Open in CIViC	civic

Unmapped disease1unmapped disease

NOT KIT D816V AND ( KIT V560G OR KIT D816Y OR KIT D816F )

(functional)

Functional

Supports Gain Of Function

submitted

EID11161

PMID 11861291 · Ma et al., 2002 · Open in CIViC

civic

Evidence by cancer (13 items)

Clinical significance (1)