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	VHL	Splice Site (c.341-2A>C)	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease		Hes et al., 2007
C	VHL	F76del (c.227_229del)	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease		Hes et al., 2007
C	VHL	F76del (c.227_229del)	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease		Nordstrom-O'Brien et al., 2010
C	VHL	S65W (c.194C>G)	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease		Wu et al., 2012
C	VHL	F76del (c.227_229del)	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease		Wu et al., 2012
C	VHL	W88* (c.263G>A)	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease		Wu et al., 2012
B	ARID1A	Underexpression	Prognostic	Supports	Poor Outcome	Ovarian Clear Cell Carcinoma		Katagiri et al., 2012
C	VHL	E70K (c.208G>A)	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease		Heo et al., 2016
B	SLC3A2::NRG1	Fusion	Prognostic	Supports	Poor Outcome	Lung Adenocarcinoma		Shin et al., 2016
B	BRCA2	Loss-of-function	Predictive	Supports	Sensitivity/Response	Her2-receptor Negative Breast Cancer	Olaparib	Robson et al., 2017
B	KRAS	Amplification	Prognostic	Supports	Poor Outcome	Endometrial Cancer		Birkeland et al., 2012
B	PTEN	Loss	Predictive	Does Not Support	Sensitivity/Response	Cancer	Everolimus	Kim et al., 2017
C	ATP1B1::NRG1	Fusion	Predictive	Supports	Sensitivity/Response	Cholangiocarcinoma	Afatinib	Jones et al., 2017
C	SDC4::NRG1	Fusion	Predictive	Supports	Sensitivity/Response	Lung Adenocarcinoma	Afatinib	Jones et al., 2017
C	VHL	R82P (c.245G>C)	Predisposing	N/A		Von Hippel-Lindau Disease		Olschwang et al., 1998
B	DICER1	D1709N	Predisposing	Supports	Predisposition	Sertoli-Leydig Cell Tumor		Heravi-Moussavi et al., 2012
C	DICER1	D1709G	Predisposing	Supports	Predisposition	Sertoli-Leydig Cell Tumor		Heravi-Moussavi et al., 2012
C	BRAF	V600E	Predictive	Supports	Sensitivity/Response	Cholangiocarcinoma	Dabrafenib,Trametinib	Kocsis et al., 2017
C	BRAF	V600E	Predictive	Supports	Sensitivity/Response	Intrahepatic Cholangiocarcinoma	Trametinib,Dabrafenib	Lavingia et al., 2016
C	BRAF	V600E	Predictive	Supports	Sensitivity/Response	Intrahepatic Cholangiocarcinoma	Dabrafenib,Trametinib	Loaiza-Bonilla et al., 2014
C	BRAF	V600E	Predictive	Supports	Sensitivity/Response	Cholangiocarcinoma	Vemurafenib,Irinotecan,Panitumumab	Silkin et al., 2016
C	EGFR::RAD51	Fusion	Predictive	Supports	Sensitivity/Response	Lung Adenocarcinoma	Erlotinib	Zhu et al., 2018
B	BRCA1	Mutation	Predictive	Supports	Sensitivity/Response	Pancreatic Cancer	Olaparib	Kaufman et al., 2015
D	EGFR	L858R	Predictive	Supports	Sensitivity/Response	Cancer	Erlotinib	Foster et al., 2010
D	BAP1	ALTERNATIVE TRANSCRIPT (ATI)	Predictive	Supports	Sensitivity/Response	Malignant Mesothelioma	Apitolisib,Olaparib	Parrotta et al., 2017
B	BRCA1	Mutation	Predictive	Supports	Sensitivity/Response	Pancreatic Cancer	Cisplatin,Gemcitabine,Veliparib	O'Reilly et al., 2018
B	BRCA2	Mutation	Predictive	Supports	Sensitivity/Response	Pancreatic Cancer	Cisplatin,Veliparib,Gemcitabine	O'Reilly et al., 2018
B	BRCA1	Mutation	Predictive	Does Not Support	Sensitivity/Response	Pancreatic Cancer	Veliparib	Lowery et al., 2018
B	BRCA2	Mutation	Predictive	Does Not Support	Sensitivity/Response	Pancreatic Cancer	Veliparib	Lowery et al., 2018
C	BRCA2	Mutation	Predictive	Supports	Sensitivity/Response	Pancreatic Cancer	Iniparib	Fogelman et al., 2011
C	EGFR	M766_A767insASV	Predictive	Does Not Support	Sensitivity/Response	Lung Non-small Cell Carcinoma	Erlotinib	Yasuda et al., 2013
D	EGFR	D770_N771insNPG	Predictive	Does Not Support	Sensitivity/Response	Lung Non-small Cell Carcinoma	Afatinib,Gefitinib	Yasuda et al., 2013
C	STRN::ALK	Fusion	Predictive	Supports	Sensitivity/Response	Colon Adenocarcinoma	Ceritinib	Yakirevich et al., 2016
D	BARD1	Loss-of-function	Predictive	Supports	Sensitivity/Response	Colorectal Cancer	Olaparib	Ozden et al., 2016
C	v::ALK	Fusion	Predictive	Supports	Sensitivity/Response	Anaplastic Thyroid Carcinoma	Crizotinib	Godbert et al., 2015
B	BRAF	V600E	Predictive	Supports	Sensitivity/Response	Ovarian Cancer	Vemurafenib	Hainsworth et al., 2018
C	BRAF	V600E	Predictive	Supports	Sensitivity/Response	Anaplastic Thyroid Carcinoma	Vemurafenib,Pertuzumab	Hainsworth et al., 2018
C	BRAF	V600E	Predictive	Supports	Sensitivity/Response	Laryngeal Squamous Cell Carcinoma	Vemurafenib	Hainsworth et al., 2018
B	ERBB2	Amplification	Predictive	Supports	Sensitivity/Response	Bladder Carcinoma	Trastuzumab,Pertuzumab	Hainsworth et al., 2018
D	ASS1	Loss	Predictive	Supports	Sensitivity/Response	Sarcoma	Chloroquine,Pegargiminase	Bean et al., 2016
D	ASS1	Loss	Predictive	Supports	Resistance	Ovarian Cancer	Carboplatin,Cisplatin,Taxol	Nicholson et al., 2009
B	BCL2	Mutation	Prognostic	Supports	Poor Outcome	Follicular Lymphoma		Correia et al., 2015
D	RASA1	Loss-of-function	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Trametinib	Hayashi et al., 2018
D	TLK2	Amplification	Predictive	Supports	Sensitivity/Response	Breast Cancer	Go6983,GF109203X	Kim et al., 2016
D	BRAF	D594G	Predictive	Supports	Sensitivity/Response	Skin Melanoma	Sorafenib	Smalley et al., 2009
D	BRAF	D594G	Predictive	Supports	Resistance	Skin Melanoma	U0126	Smalley et al., 2009
D	BRAF	G469E	Predictive	Supports	Sensitivity/Response	Skin Melanoma	Sorafenib	Smalley et al., 2009
D	BRAF	G469E	Predictive	Supports	Resistance	Skin Melanoma	U0126	Smalley et al., 2009
C	EGFR	L747_P753delinsS	Predictive	Supports	Sensitivity/Response	Pancreatic Adenocarcinoma	Erlotinib	Cecchini et al., 2017
D	MYCN	Amplification	Predictive	Supports	Sensitivity/Response	Neuroblastoma	JQ1,Panobinostat	Shahbazi et al., 2016

Page 50 of 96

Previous Next