CIViC Evidence Items

112 evidence items indexed

Evidence Level Distribution

CIViC evidence levels reflect study design quality, from A (strongest) to E (weakest).

AValidated — meta-analysis, systematic review, or major guideline

BClinical — prospective trial or retrospective cohort study

CCase study — single case report or small case series

DPreclinical — in vitro or animal model data

EInferential — computational prediction or biological rationale

Gene × Evidence Type

Count of CIViC evidence items per gene and evidence type category. Hover a column header for the type definition.

	Predictive	Diagnostic	Prognostic	Functional	Predispos.	Oncogenic
BCR::ABL1	323	11
BRAF	186	4	26	2		1
EGFR	248		12	3		2
EML4::ALK	64
ERBB2	142		2
FLT3	55	2	21
KIT	102	3	7
KRAS	159	4	24			4
PIK3CA	156		16	4
PTEN	53	1	3	1	2	1
TP53	52		40	100	2
VHL	5	2	3		635	15

Predictive:Links a variant to treatment response or resistance

Diagnostic:Supports or refutes a specific disease diagnosis

Prognostic:Informs disease progression or clinical outcome

Functional:Characterises the biological effect of a variant

Predisposing:Germline variant associated with cancer predisposition

Oncogenic:Characterises the variant's role in oncogenesis

Level	Gene	Variant	Type	Direction	Significance	Disease	Drugs	Source
C	KIT	V560DEL	Predictive	Supports	Sensitivity/Response	Thymic Carcinoma	Imatinib	Ströbel et al., 2004
D	KIT	T670I	Predictive	Supports	Resistance	Gastrointestinal Stromal Tumor	Imatinib	Garner et al., 2014
D	KIT	T670I	Predictive	Does Not Support	Resistance	Gastrointestinal Stromal Tumor	Ponatinib,Sunitinib	Garner et al., 2014
B	KIT	D816V	Prognostic	Supports	Poor Outcome	Acute Myeloid Leukemia		Cairoli et al., 2006
B	KIT	M541L	Diagnostic	Does Not Support	Positive	Chronic Myeloid Leukemia		Krüger et al., 2006
A	KIT	Exon 11 Mutation	Predictive	Supports	Sensitivity/Response	Gastrointestinal Stromal Tumor	Imatinib	Heinrich et al., 2003
A	KIT	Exon 9 Mutation	Predictive	Supports	Sensitivity/Response	Gastrointestinal Stromal Tumor	Imatinib	Debiec-Rychter et al., 2006
B	KIT	D816V	Predictive	Supports	Sensitivity/Response	Systemic Mastocytosis	Midostaurin	Gotlib et al., 2016
B	KIT	D816V	Prognostic	Supports	Poor Outcome	Systemic Mastocytosis		Jawhar et al., 2016
B	KIT	Exon 11 Mutation	Predictive	Supports	Sensitivity/Response	Gastrointestinal Stromal Tumor	Imatinib	Heinrich et al., 2008
D	KIT	T670I	Predictive	Supports	Resistance	Gastrointestinal Stromal Tumor	Regorafenib Anhydrous	Garner et al., 2014
D	KIT	D816E	Predictive	Supports	Resistance	Gastrointestinal Stromal Tumor	Imatinib,Sunitinib	Garner et al., 2014
D	KIT	V560_L576del	Predictive	Supports	Sensitivity/Response	Gastrointestinal Stromal Tumor	Imatinib,Ponatinib	Garner et al., 2014
D	KIT	D816E	Predictive	Does Not Support	Resistance	Gastrointestinal Stromal Tumor	Ponatinib	Garner et al., 2014
D	KIT	A829P	Predictive	Does Not Support	Resistance	Gastrointestinal Stromal Tumor	Ponatinib	Garner et al., 2014
D	KIT	N822K	Predictive	Supports	Resistance	Gastrointestinal Stromal Tumor	Sunitinib,Imatinib	Garner et al., 2014
D	KIT	A829P AND ( KIT W557_K558del OR KIT V560_Y578del )	Predictive	Supports	Resistance	Gastrointestinal Stromal Tumor	Imatinib,Sunitinib	Garner et al., 2014
D	KIT	L576P	Predictive	Supports	Resistance	Melanoma	Imatinib,Nilotinib,Sorafenib	Woodman et al., 2009
D	KIT	L576P	Predictive	Supports	Sensitivity/Response	Melanoma	Dasatinib	Woodman et al., 2009
B	KIT	Exon 11 Mutation	Prognostic	Does Not Support		Gastrointestinal Stromal Tumor		Wardelmann et al., 2006
B	KIT	Exon 11 Mutation	Predictive	Supports	Sensitivity/Response	Melanoma	Imatinib	Hodi et al., 2013
B	KIT	Exon 14 Mutation	Prognostic	Supports	Poor Outcome	Gastrointestinal Stromal Tumor		Wardelmann et al., 2006
D	KIT	V654A	Predictive	Supports	Resistance	Gastrointestinal Stromal Tumor	Imatinib	Heinrich et al., 2006
C	KIT	Internal Duplication	Predictive	Supports	Sensitivity/Response	Malignant Anus Melanoma	Imatinib	Hodi et al., 2008
D	KIT	L576P	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Dasatinib,Nilotinib,Imatinib	Antonescu et al., 2007
B	KIT	V654A	Predictive	Supports	Sensitivity/Response	Gastrointestinal Stromal Tumor	Sunitinib	Prenen et al., 2006
B	KIT	Exon 11 Mutation	Prognostic	Does Not Support		Gastrointestinal Stromal Tumor		Corless et al., 2002
B	KIT	Exon 11 Mutation	Prognostic	Supports	Poor Outcome	Gastrointestinal Stromal Tumor		Taniguchi et al., 1999
B	KIT	rs17084733	Diagnostic	Supports	Positive	Acral Lentiginous Melanoma		Godshalk et al., 2011
B	KIT	Mutation	Predictive	Supports	Sensitivity/Response	Melanoma	Imatinib	Guo et al., 2011
B	KIT	Exon 9 Mutation	Predictive	Supports	Sensitivity/Response	Gastrointestinal Stromal Tumor	Sunitinib	Rutkowski et al., 2012
C	KIT	Exon 11 Mutation	Predictive	Supports	Sensitivity/Response	Melanoma	Sunitinib	Minor et al., 2012
B	KIT	Exon 9 Mutation	Predictive	Supports	Sensitivity/Response	Gastrointestinal Stromal Tumor	Sunitinib	Heinrich et al., 2008
B	KIT	Amplification	Predictive	Supports	Resistance	Mucosal Melanoma	Imatinib	Hodi et al., 2013
B	KIT	Exon 9 Mutation	Predictive	Supports	Sensitivity/Response	Gastrointestinal Stromal Tumor	Imatinib	Heinrich et al., 2003
C	KIT	D820Y	Predictive	Supports	Resistance	Melanoma	Imatinib	Carvajal et al., 2011
C	KIT	N822K	Predictive	Supports	Resistance	Gastrointestinal Stromal Tumor	Imatinib	Heinrich et al., 2006
C	KIT	Y823D	Predictive	Supports	Resistance	Gastrointestinal Stromal Tumor	Imatinib	Heinrich et al., 2006
C	KIT	C809G	Predictive	Supports	Resistance	Gastrointestinal Stromal Tumor	Imatinib	Heinrich et al., 2006
C	KIT	D820A	Predictive	Supports	Resistance	Gastrointestinal Stromal Tumor	Imatinib	Heinrich et al., 2006
C	KIT	D820G	Predictive	Supports	Resistance	Gastrointestinal Stromal Tumor	Imatinib	Heinrich et al., 2006
C	KIT	D816H	Predictive	Supports	Resistance	Gastrointestinal Stromal Tumor	Imatinib	Heinrich et al., 2006
C	KIT	T670I	Predictive	Supports	Resistance	Gastrointestinal Stromal Tumor	Imatinib	Heinrich et al., 2006
C	KIT	V559D	Predictive	Supports	Sensitivity/Response	Gastrointestinal Stromal Tumor	Imatinib	Cameron et al., 2011
B	KIT	Exon 11 Mutation	Predictive	Supports	Resistance	Gastrointestinal Stromal Tumor	Sunitinib	Heinrich et al., 2008
C	KIT	W557_K558del	Predictive	Supports	Resistance	Gastrointestinal Stromal Tumor	Sunitinib	Heinrich et al., 2008
D	KIT	W557_K558del	Predictive	Supports	Sensitivity/Response	Gastrointestinal Stromal Tumor	Ponatinib,Imatinib	Garner et al., 2014
C	KIT	Exon 9 Mutation	Predictive	Supports	Reduced Sensitivity	Gastrointestinal Stromal Tumor	Regorafenib Anhydrous	Ben-Ami et al., 2016
C	KIT	V560D	Predictive	Supports	Resistance	Gastrointestinal Stromal Tumor	Sunitinib	Heinrich et al., 2008
D	KIT	V560D	Predictive	Supports	Sensitivity/Response	Gastrointestinal Stromal Tumor	Ponatinib,Regorafenib Anhydrous,Sunitinib,Imatinib	Garner et al., 2014

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