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
D	ERBB3	Overexpression	Predictive	Supports	Resistance	Cancer	Selumetinib,HER2 Inhibitor CP-724,714,Gefitinib	Sun et al., 2014
B	ERBB2	Amplification	Predictive	Supports	Sensitivity/Response	Her2-receptor Positive Breast Cancer	Trastuzumab Emtansine	Krop et al., 2014
B	ERBB2	Amplification	Predictive	Supports	Sensitivity/Response	Her2-receptor Positive Breast Cancer	Trastuzumab Emtansine	Verma et al., 2012
B	CD274	Expression	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Atezolizumab,Pembrolizumab,Avelumab,Nivolumab	Passiglia et al., 2016
B	CD274	Expression	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Atezolizumab	Fehrenbacher et al., 2016
D	ERBB2	V842I	Predictive	Supports	Sensitivity/Response	Colon Cancer	Trastuzumab,Lapatinib,Neratinib	Kavuri et al., 2015
B	v::ALK	Fusion	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Ceritinib	Kim et al., 2016
D	ERBB2	L755S	Predictive	Supports	Sensitivity/Response	Colon Cancer	Neratinib,Trastuzumab,Lapatinib	Kavuri et al., 2015
D	ERBB2	V777L	Predictive	Supports	Sensitivity/Response	Colon Cancer	Trastuzumab,Neratinib,Lapatinib	Kavuri et al., 2015
D	ERBB2	L866M	Predictive	Supports	Sensitivity/Response	Colon Cancer	Trastuzumab,Lapatinib,Neratinib	Kavuri et al., 2015
D	ERBB2	S310F/Y	Predictive	Supports	Sensitivity/Response	Colon Cancer	Lapatinib,Neratinib,Trastuzumab	Kavuri et al., 2015
B	KRAS	G13D	Predictive	Supports	Resistance	Colorectal Cancer	Cetuximab	Rowland et al., 2016
E	EML4::ALK	e2::e20	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Crizotinib	Takeuchi et al., 2008
D	EML4::ALK	e6::e20	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	2,4-pyrimidinediamine	Choi et al., 2008
C	EML4::ALK	e6::e20	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Crizotinib	Kwak et al., 2010
B	v::ALK	Fusion	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Crizotinib	Ou et al., 2014
B	v::ALK	Fusion	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Crizotinib	Solomon et al., 2016
D	EML4::ALK	Fusion	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Retaspimycin Hydrochloride,Crizotinib	Normant et al., 2011
C	EML4::ALK	Fusion	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Crizotinib	Kwak et al., 2010
C	PMS2	K706FS*19	Predictive	Supports	Sensitivity/Response	Glioblastoma	Nivolumab	Bouffet et al., 2016
B	KRAS	Exon 2 Mutation	Predictive	Supports	Resistance	Pancreatic Cancer	Gemcitabine,Erlotinib	Kim et al., 2011
A	KIT	Exon 9 Mutation	Predictive	Supports	Sensitivity/Response	Gastrointestinal Stromal Tumor	Imatinib	Debiec-Rychter et al., 2006
B	ALK	Mutation	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Ceritinib	Shaw et al., 2014
C	v::ALK	Fusion	Predictive	Supports	Sensitivity/Response	Anaplastic Large Cell Lymphoma	Crizotinib	Gambacorti-Passerini et al., 2011
B	NPM1::ALK	Fusion	Predictive	Supports	Sensitivity/Response	Anaplastic Large Cell Lymphoma	Crizotinib	Mossé et al., 2013
C	RANBP2::ALK	Fusion	Predictive	Supports	Sensitivity/Response	Inflammatory Myofibroblastic Tumor	Crizotinib	Butrynski et al., 2010
D	CLTC::ALK	Fusion	Predictive	Supports	Sensitivity/Response	Diffuse Large B-cell Lymphoma	ALK Inhibitor TAE684	Cerchietti et al., 2011
B	U2AF1	MUTATION	Prognostic	Supports	Poor Outcome	Myelofibrosis		Barraco et al., 2016
D	DUX4::v	Fusion	Diagnostic	Supports	Positive	Acute Lymphoblastic Leukemia		Yasuda et al., 2016
B	v::ALK	Fusion	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Alectinib	Gadgeel et al., 2014
B	BCL2L11	Deletion Polymorphism	Predictive	Supports	Resistance	Chronic Myeloid Leukemia	Imatinib	Ng et al., 2012
B	BCL2L11	Deletion Polymorphism	Predictive	Supports	Resistance	Lung Non-small Cell Carcinoma	Epidermal Growth Factor Receptor Tyrosine Kinase Inhibitor	Ng et al., 2012
C	ALK	I1171	Predictive	Supports	Resistance	Lung Non-small Cell Carcinoma	Alectinib	Katayama et al., 2014
C	ALK	I1171	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Ceritinib	Katayama et al., 2014
B	PIK3CA	Mutation	Predictive	Supports	Sensitivity/Response	Her2-receptor Positive Breast Cancer	Everolimus	André et al., 2016
B	PTEN	Loss	Predictive	Supports	Sensitivity/Response	Her2-receptor Positive Breast Cancer	Everolimus	André et al., 2016
B	KRAS	G12R	Prognostic	Supports	Poor Outcome	Pancreatic Cancer		Ogura et al., 2013
B	KRAS	G12D	Prognostic	Supports	Poor Outcome	Pancreatic Cancer		Bournet et al., 2016
B	TP53	R72P	Predisposing	Does Not Support	Predisposition	Breast Cancer		Schmidt et al., 2007
C	PALB2	Biallelic Inactivation	Predictive	Supports	Sensitivity/Response	Pancreatic Cancer	Mitomycin	Villarroel et al., 2011
A	MYCN	Amplification	Prognostic	Supports	Poor Outcome	Neuroblastoma		Bresler et al., 2014
D	ALK	F1174L	Predictive	Supports	Sensitivity/Response	Neuroblastoma	Lorlatinib	Infarinato et al., 2016
D	ALK	R1275Q	Predictive	Supports	Sensitivity/Response	Neuroblastoma	Lorlatinib	Infarinato et al., 2016
D	EML4::ALK	Fusion AND ALK L1196M	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Ceritinib	Friboulet et al., 2014
D	ALK	I1171	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Ceritinib	Friboulet et al., 2014
D	EML4::ALK	Fusion AND ALK G1202R	Predictive	Supports	Resistance	Lung Non-small Cell Carcinoma	Ceritinib	Friboulet et al., 2014
D	EML4::ALK	Fusion AND ALK C1156Y	Predictive	Supports	Resistance	Lung Non-small Cell Carcinoma	Crizotinib	Friboulet et al., 2014
B	BRCA1	Mutation	Predictive	Supports	Sensitivity/Response	Cancer	Olaparib	Fong et al., 2009
B	BRCA2	Mutation	Predictive	Supports	Sensitivity/Response	Cancer	Olaparib	Fong et al., 2009
B	ASXL1	EXON 12 MUTATION	Prognostic	Supports	Poor Outcome	Acute Myeloid Leukemia		Schnittger et al., 2013

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