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
B	KRAS	G12/G13	Predictive	Does Not Support	Resistance	Colorectal Cancer	Bevacizumab	Souglakos et al., 2009
B	KRAS	G12 OR KRAS G13	Predictive	Supports	Resistance	Colorectal Cancer	Cetuximab	Souglakos et al., 2009
B	PIK3CA	Mutation	Prognostic	Does Not Support	Poor Outcome	Colorectal Cancer		Souglakos et al., 2009
B	PIK3CA	Mutation	Predictive	Does Not Support	Resistance	Colorectal Cancer	Oxaliplatin	Souglakos et al., 2009
B	PIK3CA	Mutation	Predictive	Does Not Support	Resistance	Colorectal Cancer	Irinotecan	Souglakos et al., 2009
B	PIK3CA	Mutation	Predictive	Does Not Support	Resistance	Colorectal Cancer	Bevacizumab	Souglakos et al., 2009
B	PIK3CA	Mutation	Predictive	Supports	Resistance	Colorectal Cancer	Cetuximab	Souglakos et al., 2009
B	BRAF	Mutation	Prognostic	Supports	Poor Outcome	Colorectal Cancer		Souglakos et al., 2009
B	BRAF	Mutation	Predictive	Supports	Resistance	Colorectal Cancer	Oxaliplatin	Souglakos et al., 2009
B	BRAF	Mutation	Predictive	Supports	Resistance	Colorectal Cancer	Irinotecan	Souglakos et al., 2009
B	BRAF	Mutation	Predictive	Supports	Resistance	Colorectal Cancer	Bevacizumab	Souglakos et al., 2009
B	BRAF	Mutation	Predictive	Supports	Resistance	Colorectal Cancer	Cetuximab	Souglakos et al., 2009
B	BRAF	Mutation	Prognostic	Supports	Poor Outcome	Colorectal Cancer		Souglakos et al., 2009
B	BCR::ABL1	Fusion AND ABL1 L248V	Predictive	Does Not Support	Resistance	Chronic Myeloid Leukemia	Dasatinib	Müller et al., 2009
B	BCR::ABL1	Fusion AND ABL1 F317L	Predictive	Supports	Resistance	Chronic Myeloid Leukemia	Dasatinib	Müller et al., 2009
B	BCR::ABL1	Fusion AND ABL1 E459K	Predictive	Does Not Support	Resistance	Chronic Myeloid Leukemia	Dasatinib	Müller et al., 2009
B	ABL1	TKD Mutation	Predictive	Does Not Support	Resistance	Chronic Myeloid Leukemia	Dasatinib	Müller et al., 2009
B	PTEN	Loss	Predictive	Supports	Resistance	Colorectal Cancer	Panitumumab,Cetuximab	Sartore-Bianchi et al., 2009
B	ABL1	TKD Mutation	Predictive	Does Not Support	Resistance	Chronic Myeloid Leukemia	Bosutinib	Cortes et al., 2011
B	ABL1	P-Loop Mutation	Predictive	Does Not Support	Resistance	Chronic Myeloid Leukemia	Bosutinib	Cortes et al., 2011
B	ABL1	Non-P-Loop Mutation	Predictive	Does Not Support	Resistance	Chronic Myeloid Leukemia	Bosutinib	Cortes et al., 2011
B	BRCA1	Mutation	Predictive	Supports	Sensitivity/Response	Ovarian Cancer	Rucaparib	Swisher et al., 2017
B	ABL1	TKD Mutation	Predictive	Does Not Support	Resistance	Chronic Myeloid Leukemia	Nilotinib	Hughes et al., 2009
B	BRCA2	Mutation	Predictive	Supports	Sensitivity/Response	Ovarian Cancer	Rucaparib	Swisher et al., 2017
C	VHL	S65W (c.194C>G)	Predisposing	Supports	Uncertain Significance	Von Hippel-Lindau Disease		Launbjerg et al., 2017
B	PIK3CA	Mutation	Predictive	Supports	Resistance	Colorectal Cancer	Cetuximab,Panitumumab	Sartore-Bianchi et al., 2009
B	KRAS	G12/G13	Predictive	Supports	Resistance	Colorectal Cancer	Cetuximab,Panitumumab	Sartore-Bianchi et al., 2009
B	PIK3CA	Mutation	Predictive	Supports	Sensitivity/Response	Colorectal Cancer	Aspirin	Liao et al., 2012
B	KIT	Exon 11 Mutation	Predictive	Supports	Sensitivity/Response	Gastrointestinal Stromal Tumor	Regorafenib Anhydrous	Ben-Ami et al., 2016
B	BRAF	intron 10 rearrangement	Predictive	Supports	Resistance	Melanoma	Vemurafenib,Dabrafenib	Shi et al., 2014
B	BRAF	intron 9 rearrangement	Predictive	Supports	Resistance	Melanoma	Vemurafenib,Dabrafenib	Shi et al., 2014
B	BRAF	D594K	Predictive	Supports	Resistance	Colorectal Cancer	Irinotecan	Souglakos et al., 2009
B	BRAF	D594K	Predictive	Supports	Resistance	Colorectal Cancer	Oxaliplatin	Souglakos et al., 2009
C	FGFR3::TACC3	Fusion	Predictive	Supports	Sensitivity/Response	Transitional Cell Carcinoma	Infigratinib	Pal et al., 2018
C	VHL	A122I (c.364_365GC>AT)	Predisposing	Supports	Uncertain Significance	Von Hippel-Lindau Disease		Neumann et al., 2002
B	H3-3A	K28M	Diagnostic	Supports	Positive	Diffuse Midline Glioma, H3 K27M-mutant		Wu et al., 2014
B	H3-3A	K28M	Diagnostic	Supports	Positive	Diffuse Midline Glioma, H3 K27M-mutant		Wu et al., 2012
C	VHL	S65W (c.194C>G)	Predisposing	Supports	Uncertain Significance	Von Hippel-Lindau Disease		Zhang et al., 2015
B	ETV6::NTRK3	Fusion	Prognostic	Supports	Poor Outcome	Papillary Thyroid Carcinoma		Prasad et al., 2016
C	ETV6::NTRK3	Fusion	Predictive	Supports	Sensitivity/Response	Breast Secretory Carcinoma	Larotrectinib	Shukla et al., 2017
B	KMT2C	Loss	Predictive	Supports	Resistance	Breast Cancer	Aromatase Inhibitor	Gala et al., 2018
C	VHL	c.−213− ?_463 ?del	Predisposing	Supports	Uncertain Significance	Von Hippel-Lindau Disease		Kruizinga et al., 2014
C	VHL	P81S (c.241C>T)	Predisposing	N/A		Von Hippel-Lindau Disease		Kruizinga et al., 2014
C	VHL	V87fs (c.259_260insA)	Predisposing	Supports	Uncertain Significance	Von Hippel-Lindau Disease		Kruizinga et al., 2014
C	VHL	G93S (c.277G>A)	Predisposing	Supports	Uncertain Significance	Von Hippel-Lindau Disease		Kruizinga et al., 2014
C	VHL	Splice Site (c.340+1G>A)	Predisposing	Supports	Uncertain Significance	Von Hippel-Lindau Disease		Kruizinga et al., 2014
C	VHL	c.341-59_341-14del	Predisposing	Supports	Uncertain Significance	Von Hippel-Lindau Disease		Kruizinga et al., 2014
C	VHL	R120G (c.358A>G)	Predisposing	Supports	Uncertain Significance	Von Hippel-Lindau Disease		Kruizinga et al., 2014
C	VHL	F136S (c.407T>C)	Predisposing	Supports	Uncertain Significance	Von Hippel-Lindau Disease		Kruizinga et al., 2014
C	VHL	P154= (c.462A>C)	Predisposing	Supports	Uncertain Significance	Von Hippel-Lindau Disease		Kruizinga et al., 2014

Page 52 of 96

Previous Next