CIViC Evidence Items

4766 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	MET	Amplification	Predictive	Supports	Sensitivity/Response	Lung Adenocarcinoma	Crizotinib	Le et al., 2015
C	ERBB2	Mutation	Predictive	Supports	Sensitivity/Response	Bladder Carcinoma	Platinum Compound	Groenendijk et al., 2016
B	KMT2C	Mutation	Prognostic	Supports	Poor Outcome	Skin Squamous Cell Carcinoma		Pickering et al., 2014
C	BRAF	V600E	Predictive	Supports	Sensitivity/Response	Multiple Myeloma	Vemurafenib	Sharman et al., 2014
D	KRAS	Mutation	Predictive	Supports	Resistance	Colorectal Cancer	Cetuximab	Bertotti et al., 2011
C	MET	Amplification	Predictive	Supports	Sensitivity/Response	Cancer	Crizotinib	Palma et al., 2014
B	SGK1	Overexpression	Predictive	Supports	Resistance	Breast Cancer	Alpelisib	Castel et al., 2016
B	KRAS	G12D	Prognostic	Supports	Poor Outcome	Pancreatic Ductal Carcinoma		Bournet et al., 2016
B	CD274	Expression	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Pembrolizumab	Reck et al., 2016
B	EGFR	G719S	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Gefitinib,Erlotinib	Otsuka et al., 2015
B	STK11	Loss	Predisposing	Supports	Predisposition	Peutz-Jeghers Syndrome		Lim et al., 2003
D	SMARCB1	Deletion	Predictive	Supports	Sensitivity/Response	Rhabdoid Cancer	Tazemetostat	Knutson et al., 2013
D	NF1	Loss	Predictive	Supports	Sensitivity/Response	Malignant Peripheral Nerve Sheath Tumor	JQ1 Compound	Patel et al., 2014
B	KIF23	EXPRESSION	Prognostic	Supports	Better Outcome	Hepatocellular Carcinoma		Sun et al., 2015
B	ERBB3	V104M	Predictive	Supports	Sensitivity/Response	Transitional Cell Carcinoma	Afatinib	Choudhury et al., 2016
B	ERBB3	R103G	Predictive	Supports	Sensitivity/Response	Transitional Cell Carcinoma	Afatinib	Choudhury et al., 2016
B	ERBB3	G284R	Predictive	Supports	Sensitivity/Response	Transitional Cell Carcinoma	Afatinib	Choudhury et al., 2016
B	BRAF	V600	Predictive	Supports	Sensitivity/Response	Melanoma	Trametinib	Flaherty et al., 2012
B	GADD45A	rs681673	Predisposing	Supports	Predisposition	Ovarian Cancer		Yuan et al., 2015
B	EWSR1::FLI1	Fusion	Diagnostic	Supports	Positive	Ewing Sarcoma Of Bone		Bridge et al., 2006
C	BRCA1	Alu insertion	Predisposing	Supports	Predisposition	Breast Cancer		Teugels et al., 2005
B	KLLN	PROMOTER METHYLATION	Predisposing	Supports	Predisposition	Breast Cancer		Bennett et al., 2010
B	KLLN	PROMOTER METHYLATION	Predisposing	Supports	Predisposition	Renal Cell Carcinoma		Bennett et al., 2010
C	EGFR	D761Y	Predictive	Supports	Resistance	Lung Non-small Cell Carcinoma	Gefitinib,Erlotinib	Balak et al., 2006
C	CDKN2A	Loss	Predictive	Supports	Sensitivity/Response	Her2-receptor Negative Breast Cancer	Letrozole,Palbociclib	Gao et al., 2015
C	CRBN	Mutation	Predictive	Supports	Resistance	Multiple Myeloma	Pomalidomide,Lenalidomide	Egan et al., 2013
D	FGFR1	Amplification	Predictive	Supports	Sensitivity/Response	Estrogen-receptor Positive Breast Cancer	Ponatinib	Gozgit et al., 2012
D	PDGFRA	Amplification	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Sunitinib	McDermott et al., 2009
B	BRCA1	Mutation	Predictive	Supports	Sensitivity/Response	Ovarian Cancer	Olaparib	Gelmon et al., 2011
B	BRCA2	Mutation	Predictive	Supports	Sensitivity/Response	Ovarian Cancer	Olaparib	Gelmon et al., 2011
C	FIP1L1::PDGFRA	Fusion	Predictive	Supports	Sensitivity/Response	Myeloid And Lymphoid Neoplasms With Eosinophilia And Abnormalities Of PDGFRA, PDGFRB, And FGFR1	Imatinib	Srinivas et al., 2014
B	BRCA1	Mutation	Predictive	Supports	Resistance	Triple-receptor Negative Breast Cancer	Olaparib	Gelmon et al., 2011
B	BRCA2	Mutation	Predictive	Does Not Support	Sensitivity/Response	Triple-receptor Negative Breast Cancer	Olaparib	Gelmon et al., 2011
D	FIP1L1::PDGFRA	Fusion	Predictive	Supports	Sensitivity/Response	Myeloid And Lymphoid Neoplasms With Eosinophilia And Abnormalities Of PDGFRA, PDGFRB, And FGFR1	Ponatinib	Sadovnik et al., 2014
C	EWSR1::DDIT3	Fusion	Diagnostic	Supports	Positive	Myxoid Liposarcoma		Panagopoulos et al., 1996
D	FIP1L1::PDGFRA	Fusion AND PDGFRA T674I	Predictive	Supports	Sensitivity/Response	Myeloid And Lymphoid Neoplasms With Eosinophilia And Abnormalities Of PDGFRA, PDGFRB, And FGFR1	Ponatinib	Sadovnik et al., 2014
D	BRD4::NUTM1	Fusion	Predictive	Supports	Sensitivity/Response	NUT Midline Carcinoma	JQ1	Filippakopoulos et al., 2010
C	EGFR	S720	Predictive	Supports	Resistance	Lung Adenocarcinoma	Erlotinib	Klughammer et al., 2016
C	EGFR	K757R	Predictive	Supports	Sensitivity/Response	Lung Adenocarcinoma	Erlotinib	Klughammer et al., 2016
C	EGFR	V769_D770insASV	Predictive	Supports	Sensitivity/Response	Lung Adenocarcinoma	Erlotinib	Klughammer et al., 2016
C	FOS::v	Fusion	Diagnostic	Supports	Positive	Bone Epithelioid Hemangioma		van IJzendoorn et al., 2015
B	EGFR	Exon 20 Insertion	Predictive	Supports	Resistance	Lung Adenocarcinoma	Afatinib	Yang et al., 2015
C	VHL	E55RfsTer11 (c.163delG)	Predisposing	Supports	Uncertain Significance	Von Hippel-Lindau Disease		Zbar et al., 1996
C	VHL	A56FS (c.164_165insG)	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease		Ong et al., 2007
C	TNKS2::PDGFRA	Fusion	Predictive	Supports	Sensitivity/Response	Myeloid And Lymphoid Neoplasms With Eosinophilia And Abnormalities Of PDGFRA, PDGFRB, And FGFR1	Imatinib	Chalmers et al., 2015
B	SLCO1B1	RS4149056	Predictive	Supports	Adverse Response	Cancer	Methotrexate	Radtke et al., 2013
B	SLCO1B1	N130D	Predictive	Supports	Adverse Response	Cancer	Methotrexate	Radtke et al., 2013
B	TYMS	RS34743033	Predictive	Supports	Adverse Response	Cancer	Methotrexate	Radtke et al., 2013
B	ACTB::GLI1	Fusion	Diagnostic	Supports	Positive	Pericytoma With T(7;12)		Dahlén et al., 2004
B	CHEK2	1100DELC	Predisposing	Supports	Predisposition	Prostate Cancer		Wang et al., 2015

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