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
A	CALR	EXON 9 FRAMESHIFT	Prognostic	Supports	Better Outcome	Myelofibrosis		Tefferi et al., 2014
B	BCR::ABL1	Fusion AND ABL1 T315I	Predictive	Supports	Sensitivity/Response	Chronic Myeloid Leukemia	Ponatinib	Cortes et al., 2012
B	BRAF	V600K	Predictive	Supports	Sensitivity/Response	Melanoma	Vemurafenib	McArthur et al., 2014
D	PIK3CA	Mutation	Predictive	Supports	Sensitivity/Response	Cancer	Alpelisib	Fritsch et al., 2014
B	BRAF	V600E	Predictive	Does Not Support	Sensitivity/Response	Colorectal Cancer	Vemurafenib	Kopetz et al., 2015
B	BRAF	V600	Predictive	Supports	Sensitivity/Response	Melanoma	Dabrafenib	Falchook et al., 2012
C	BRAF	V600E	Predictive	Supports	Sensitivity/Response	Papillary Thyroid Carcinoma	Vemurafenib	Ali et al., 2014
B	BRAF	V600E	Predictive	Supports	Sensitivity/Response	Melanoma	Vemurafenib,Cobimetinib	Larkin et al., 2014
B	BRAF	V600	Predictive	Supports	Sensitivity/Response	Melanoma	Cobimetinib,Vemurafenib	Larkin et al., 2014
D	NRAS	Mutation	Predictive	Supports	Sensitivity/Response	Melanoma	Trametinib,Omipalisib	Posch et al., 2013
B	ERBB2	Amplification	Predictive	Supports	Sensitivity/Response	Her2-receptor Positive Breast Cancer	Trastuzumab,Docetaxel,Pertuzumab	Baselga et al., 2012
B	ERBB2	Amplification	Predictive	Supports	Sensitivity/Response	Her2-receptor Positive Breast Cancer	Trastuzumab,Lapatinib	Baselga et al., 2012
B	FIP1L1::PDGFRA	Fusion	Predictive	Supports	Sensitivity/Response	Myeloid And Lymphoid Neoplasms With Eosinophilia And Abnormalities Of PDGFRA, PDGFRB, And FGFR1	Imatinib	Klion et al., 2004
D	ERBB2	Amplification	Predictive	Supports	Sensitivity/Response	Her2-receptor Positive Breast Cancer	Pilaralisib,Trastuzumab	Chakrabarty et al., 2013
B	BIRC5	Overexpression	Predictive	Supports	Resistance	Her2-receptor Positive Breast Cancer	Trastuzumab	Chakrabarty et al., 2013
B	TP53	Mutation	Prognostic	Supports	Poor Outcome	Chronic Lymphocytic Leukemia		Zenz et al., 2008
C	NF1	Mutation	Predictive	Supports	Resistance	Skin Melanoma	Vemurafenib	Whittaker et al., 2013
B	SF3B1	Mutation	Prognostic	Supports	Poor Outcome	Chronic Lymphocytic Leukemia		Oscier et al., 2013
B	CALR	EXON 9 FRAMESHIFT	Predictive	Supports	Sensitivity/Response	Essential Thrombocythemia	Peginterferon Alfa-2a	Verger et al., 2015
A	v::PDGFRB	Fusion	Predictive	Supports	Sensitivity/Response	Myeloproliferative Neoplasm	Imatinib	David et al., 2007
A	ERBB2	Amplification	Predictive	Supports	Sensitivity/Response	Gastric Adenocarcinoma	Trastuzumab	Bang et al., 2010
B	IDH2	R172	Prognostic	Supports	Better Outcome	Acute Myeloid Leukemia		Papaemmanuil et al., 2016
B	NRAS	G12/G13	Prognostic	Supports	Poor Outcome	Acute Myeloid Leukemia		Papaemmanuil et al., 2016
B	AR	Mutation	Predictive	Supports	Resistance	Prostate Cancer	Nilutamide,Cyproterone Acetate,Flutamide,Bicalutamide	Robinson et al., 2015
B	CDK6	Overexpression	Predictive	Supports	Resistance	Estrogen-receptor Positive Breast Cancer	Fulvestrant	Alves et al., 2016
B	ESR1	Overexpression	Predictive	Supports	Sensitivity/Response	Breast Cancer	Palbociclib,Letrozole	Finn et al., 2015
D	MTOR	F2108L	Predictive	Supports	Resistance	Breast Cancer	Sirolimus	Rodrik-Outmezguine et al., 2016
D	MTOR	M2327I	Predictive	Supports	Resistance	Breast Cancer	MTOR Kinase Inhibitor AZD8055	Rodrik-Outmezguine et al., 2016
D	MTOR	A2034V	Predictive	Supports	Resistance	Breast Cancer	Sirolimus	Rodrik-Outmezguine et al., 2016
D	MTOR	A2034V	Predictive	Does Not Support	Resistance	Breast Cancer	MTOR Kinase Inhibitor AZD8055,RapaLink-1	Rodrik-Outmezguine et al., 2016
D	MET	Amplification	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Crizotinib	Tanizaki et al., 2011
C	JAK1	Q503*	Predictive	Supports	Resistance	Skin Melanoma	Pembrolizumab	Zaretsky et al., 2016
C	JAK2	c.1641+1dup	Predictive	Supports	Resistance	Skin Melanoma	Pembrolizumab	Zaretsky et al., 2016
B	EGFR	Expression	Predictive	Supports	Sensitivity/Response	Colorectal Cancer	Cetuximab	Jonker et al., 2007
B	MET	Overexpression	Predictive	Supports	Resistance	Skin Melanoma	Vemurafenib	Hugo et al., 2015
B	DNMT3A	Mutation	Prognostic	Supports	Poor Outcome	Acute Myeloid Leukemia		Metzeler et al., 2016
B	DNMT3A	Mutation	Prognostic	Supports	Poor Outcome	Acute Myeloid Leukemia		Papaemmanuil et al., 2016
C	MET	Amplification	Predictive	Supports	Sensitivity/Response	Colorectal Cancer	Crizotinib,Vemurafenib	Pietrantonio et al., 2016
B	MKI67	EXPRESSION	Prognostic	Supports	Poor Outcome	Breast Cancer		Petrelli et al., 2015
D	PIK3CA	Mutation	Predictive	Supports	Sensitivity/Response	Breast Cancer	Ribociclib,Phosphatidylinositide 3-Kinase Inhibitor	Vora et al., 2014
C	MAP2K1	C121S	Predictive	Supports	Resistance	Melanoma	Vemurafenib	Wagle et al., 2011
C	VHL	R200W (c.598C>T)	Predictive	Supports	Sensitivity/Response	Chuvash Polycythemia	Ruxolitinib	Zhou et al., 2016
D	FBXW7	Loss-of-function	Predictive	Supports	Sensitivity/Response	Cancer	Sirolimus	Mao et al., 2008
C	DNAJB1::PRKACA	Fusion	Diagnostic	Supports	Positive	Mixed Fibrolamellar Hepatocellular Carcinoma		Griffith et al., 2016
B	LRP1B	Deletion	Prognostic	Supports	Poor Outcome	Glioblastoma		Tabouret et al., 2015
D	ATRX	Underexpression	Prognostic	Supports	Poor Outcome	Glioblastoma		Koschmann et al., 2016
B	CALR	EXON 9 FRAMESHIFT	Prognostic	Supports	Better Outcome	Myelofibrosis		Tefferi et al., 2014
B	AXL	EXPRESSION	Prognostic	Supports	Poor Outcome	Esophagus Squamous Cell Carcinoma		Hsieh et al., 2016
B	GAS6	EXPRESSION	Prognostic	Supports	Poor Outcome	Oral Squamous Cell Carcinoma		Jiang et al., 2015
D	STAG2	Underexpression	Predictive	Supports	Resistance	Melanoma	Vemurafenib	Shen et al., 2016

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