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	ETV6::NTRK3	Fusion	Predictive	Supports	Sensitivity/Response	Congenital Fibrosarcoma	Larotrectinib	Laetsch et al., 2018
C	TPM3::NTRK1	Fusion	Predictive	Supports	Sensitivity/Response	Sarcoma	Larotrectinib	Laetsch et al., 2018
C	VHL	Y156D (c.466T>G)	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease		Dollfus et al., 2002
B	BRAF	V600E	Predictive	Supports	Sensitivity/Response	Colorectal Cancer	Panitumumab,Trametinib,Dabrafenib	Corcoran et al., 2018
B	BRAF	V600K	Predictive	Supports	Sensitivity/Response	Melanoma	Dabrafenib,Trametinib	Long et al., 2017
B	PIK3CA	Exon 21 Mutation	Prognostic	Supports	Better Outcome	Breast Cancer		Barbareschi et al., 2007
B	PIK3CA	Exon 10 Mutation	Prognostic	Supports	Poor Outcome	Breast Cancer		Barbareschi et al., 2007
D	PIK3CA	H1047R	Predictive	Supports	Resistance	Her2-receptor Positive Breast Cancer	Lapatinib,Trastuzumab	Eichhorn et al., 2008
D	PIK3CA	H1047R	Predictive	Does Not Support	Resistance	Her2-receptor Positive Breast Cancer	Dactolisib	Eichhorn et al., 2008
C	AKT1	Q79K	Predictive	Supports	Resistance	Melanoma	Dabrafenib	Shi et al., 2014
C	PREX2	R172I	Predictive	Supports	Resistance	Melanoma	Vemurafenib	Shi et al., 2014
D	PTEN	Loss	Predictive	Supports	Resistance	Melanoma	Vemurafenib	Shi et al., 2014
C	v::NRG1	Fusion	Predictive	Supports	Sensitivity/Response	Pancreatic Adenocarcinoma	Afatinib	Heining et al., 2018
D	CSF3R	T618I	Predictive	Supports	Sensitivity/Response	Chronic Neutrophilic Leukemia	Ruxolitinib	Fleischman et al., 2013
C	CSF3R	T618I	Predictive	Supports	Sensitivity/Response	Chronic Neutrophilic Leukemia	Ruxolitinib	Dao et al., 2014
C	LMNA::NTRK1	Fusion	Diagnostic	Supports	Positive	Lipofibromatosis-like Neural Tumor		Bartenstein et al., 2018
C	ETV6::NTRK2	Fusion	Predictive	Supports	Sensitivity/Response	Acute Myeloid Leukemia	Larotrectinib	Taylor et al., 2018
C	VHL	R167W (c.499C>T)	Predisposing	Supports	Uncertain Significance	Von Hippel-Lindau Disease		Neumann et al., 2002
D	IDH1	R132	Predictive	Supports	Sensitivity/Response	Intrahepatic Cholangiocarcinoma	Dasatinib	Saha et al., 2016
B	STK11	Mutation	Predictive	Supports	Resistance	Lung Adenocarcinoma	Nivolumab,Pembrolizumab,Atezolizumab	Skoulidis et al., 2018
B	H3-3B	K36M	Diagnostic	Supports	Positive	Chondroblastoma		Behjati et al., 2013
B	H3-3A	G34W	Diagnostic	Supports	Positive	Bone Giant Cell Tumor		Behjati et al., 2013
A	v::NTRK1	Fusion	Predictive	Supports	Sensitivity/Response	Solid Tumor	Larotrectinib	Drilon et al., 2018
A	v::NTRK3	Fusion	Predictive	Supports	Sensitivity/Response	Solid Tumor	Larotrectinib	Drilon et al., 2018
B	v::NTRK1	Fusion	Predictive	Supports	Sensitivity/Response	Sarcoma	Larotrectinib	Laetsch et al., 2018
D	ETV6::NTRK3	Fusion	Predictive	Supports	Sensitivity/Response	B-lymphoblastic Leukemia/lymphoma	Larotrectinib	Roberts et al., 2018
B	BRAF	V600E	Predictive	Supports	Sensitivity/Response	Melanoma	Trametinib,Dabrafenib	Flaherty et al., 2012
C	RET	M918T AND RET V804M	Predictive	Supports	Sensitivity/Response	Medullary Thyroid Carcinoma	Selpercatinib	Subbiah et al., 2018
D	BRAF	V600E AND EZH2 Y646F	Predictive	Supports	Sensitivity/Response	Melanoma	JQEZ5	Souroullas et al., 2016
B	BRAF	V600K	Predictive	Supports	Sensitivity/Response	Melanoma	Dabrafenib,Trametinib	Larkin et al., 2014
B	BRAF	V600E	Predictive	Supports	Sensitivity/Response	Anaplastic Thyroid Carcinoma	Trametinib,Dabrafenib	Subbiah et al., 2018
B	HEY1::NCOA2	Fusion	Diagnostic	Supports	Positive	Mesenchymal Chondrosarcoma		Wang et al., 2012
B	PAX3::FOXO1	Fusion	Diagnostic	Supports	Positive	Alveolar Rhabdomyosarcoma		Sorensen et al., 2002
B	PAX7::FOXO1	Fusion	Diagnostic	Supports	Positive	Alveolar Rhabdomyosarcoma		Sorensen et al., 2002
B	EGFR	Mutation	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Erlotinib	Zhou et al., 2011
B	v::RET	Fusion	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Selpercatinib	Alexander E. Drilon, 2018, ASCO Annual Meeting, Abstract 102
B	v::RET	Fusion	Predictive	Supports	Sensitivity/Response	Papillary Thyroid Carcinoma	Selpercatinib	Alexander E. Drilon, 2018, ASCO Annual Meeting, Abstract 102
B	HEY1::NCOA2	Fusion	Diagnostic	Supports	Positive	Mesenchymal Chondrosarcoma		Nakayama et al., 2012
B	HEY1::NCOA2	Fusion	Diagnostic	Supports	Positive	Mesenchymal Chondrosarcoma		Fritchie et al., 2013
D	SMARCA4	Loss	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Palbociclib,Abemaciclib	Xue et al., 2019
B	BRAF	V600E	Prognostic	Supports	Poor Outcome	Colorectal Cancer		Roth et al., 2010
B	BRAF	V600E	Prognostic	Supports	Poor Outcome	Colorectal Cancer		Van Cutsem et al., 2011
B	BRAF	Mutation	Prognostic	Supports	Poor Outcome	Colorectal Cancer		Maughan et al., 2011
B	BRAF	Mutation	Prognostic	Supports	Poor Outcome	Colorectal Cancer		Clancy et al., 2013
D	TP53	R248Q	Predisposing	Supports	Predisposition	Lymphoma		Hanel et al., 2013
C	TERT	Promoter Mutation	Prognostic	Supports	Poor Outcome	Childhood Low-grade Glioma		Yang et al., 2018
B	H3-3A	MUTATION	Prognostic	Supports	Poor Outcome	Childhood Low-grade Glioma		Yang et al., 2018
B	ATRX	Underexpression	Prognostic	Supports	Poor Outcome	Childhood Low-grade Glioma		Yang et al., 2018
B	BRAF	V600E	Prognostic	Supports	Poor Outcome	Childhood Low-grade Glioma		Yang et al., 2018
B	CDKN2A	Deletion	Prognostic	Supports	Poor Outcome	Childhood Low-grade Glioma		Yang et al., 2018

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