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	ETV6::ABL1	Fusion	Diagnostic	Supports	Positive	B-lymphoblastic Leukemia/lymphoma, BCR-ABL1–like		Zaliova et al., 2016
B	ZMIZ1::ABL1	Fusion	Prognostic	Supports	Better Outcome	B-lymphoblastic Leukemia/lymphoma, BCR-ABL1–like		den Boer et al., 2021
B	BRAF	V600E	Prognostic	Supports	Poor Outcome	Papillary Thyroid Carcinoma		Xing et al., 2005
D	PPP2R1A	P179R	Functional	Supports	Loss of Function			Taylor et al., 2019
C	EML4::ALK	Fusion	Predictive	Supports	Sensitivity/Response	Malignant Pleural Mesothelioma	Alectinib	Hu et al., 2020
D	KRAS	G10_A11insG	Oncogenic	Supports	Oncogenicity	Colorectal Cancer		Tong et al., 2014
D	KRAS	A11_G12insGA	Oncogenic	Supports	Oncogenicity	Colon Adenocarcinoma		Tong et al., 2014
C	ALK	I1171T	Predictive	Supports	Sensitivity/Response	Neuroblastoma	Ceritinib	Guan et al., 2018
B	CD44	CD44v6	Prognostic	Supports	Poor Outcome	Ovarian Cancer		Tjhay et al., 2015
B	MYOD1	L122R	Prognostic	Supports	Poor Outcome	Rhabdomyosarcoma		Shern et al., 2021
C	VHL	Y175* (c.525C>G)	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease		Dollfus et al., 2002
B	AR	AR-V7	Predictive	Supports	Resistance	Prostate Cancer	Enzalutamide,Abiraterone	Armstrong et al., 2019
B	TP53	ALTERATION	Prognostic	Supports	Poor Outcome	Rhabdomyosarcoma		Shern et al., 2021
B	NUP98::NSD1	Fusion	Prognostic	Supports	Poor Outcome	Acute Myeloid Leukemia		Hollink et al., 2011
B	COL1A1::PDGFB	Fusion	Diagnostic	Supports	Positive	Dermatofibrosarcoma Protuberans		Patel et al., 2008
B	CTNNB1	S45F	Prognostic	Supports	Poor Outcome	Desmoid Tumor		van Broekhoven et al., 2015
D	ASPSCR1::TFE3	Fusion	Oncogenic	Supports	Oncogenicity	Alveolar Soft Part Sarcoma		Goodwin et al., 2014
B	ASPSCR1::TFE3	Fusion	Diagnostic	Supports	Positive	Alveolar Soft Part Sarcoma		Ladanyi et al., 2001
C	PIK3CA	K944N	Predictive	Supports	Resistance	Colorectal Cancer	Cetuximab	Xu et al., 2017
C	PIK3CA	F930S	Predictive	Supports	Resistance	Colorectal Cancer	Cetuximab	Xu et al., 2017
C	PIK3CA	V955G	Predictive	Supports	Resistance	Colorectal Cancer	Cetuximab	Xu et al., 2017
C	PIK3CA	K966E	Predictive	Supports	Resistance	Colorectal Cancer	Cetuximab	Xu et al., 2017
D	TP53	T125T	Functional	Supports	Loss of Function			Saiki et al., 2015
B	IGF1R	Overexpression	Predictive	Supports	Sensitivity/Response	Breast Cancer	Exemestane,Metformin	Engels et al., 2016
B	SLC29A1	Overexpression	Predictive	Supports	Sensitivity/Response	Pancreatic Adenocarcinoma	Gemcitabine	Maréchal et al., 2012
B	v::TFE3	Fusion	Diagnostic	Supports	Positive	Renal Cell Carcinoma With MiT Translocations		He et al., 2015
C	KANK1::NTRK2	Fusion	Predictive	Supports	Sensitivity/Response	Anaplastic Ependymoma	Larotrectinib	Mangum et al., 2021
D	EML4::NTRK3	Fusion	Oncogenic	Supports	Oncogenicity	Congenital Fibrosarcoma		Tannenbaum-Dvir et al., 2015
D	EZH2	Y646F	Oncogenic	Supports	Oncogenicity	B-cell Lymphoma		Souroullas et al., 2016
D	FGFR3	A391E	Functional	Supports	Gain of Function			Sarabipour et al., 2016
B	BCOR	ITD	Diagnostic	Supports	Positive	Central Nervous System Tumor With BCOR Internal Tandem Duplication		Sturm et al., 2016
B	BCOR	ITD	Oncogenic	Supports	Oncogenicity	Kidney Clear Cell Sarcoma		Roy et al., 2015
B	BCOR	ITD	Oncogenic	Supports	Oncogenicity	Central Nervous System Tumor With BCOR Internal Tandem Duplication		Sturm et al., 2016
C	ETV6::NTRK3	Fusion	Predictive	Supports	Sensitivity/Response	Congenital Mesoblastic Nephroma	Larotrectinib	Halalsheh et al., 2018
C	EGFR::RAD51	Fusion	Predictive	Supports	Sensitivity/Response	Lung Adenocarcinoma	Erlotinib	Konduri et al., 2016
B	MYB::QKI	Fusion	Diagnostic	Supports	Positive	Angiocentric Glioma		Bandopadhayay et al., 2016
D	FLT3	D835Y	Predictive	Supports	Sensitivity/Response	Leukemia	Lestaurtinib	Nguyen et al., 2017
C	EML4::NTRK3	Fusion	Predictive	Supports	Sensitivity/Response	Lung Adenocarcinoma	Entrectinib	Lazzari et al., 2022
B	EZH2	Y646S OR EZH2 Y646F OR EZH2 Y646H OR EZH2 Y646C OR EZH2 Y646N OR EZH2 A692V OR EZH2 A682G	Predictive	Supports	Sensitivity/Response	Follicular Lymphoma	Tazemetostat	Izutsu et al., 2021
C	EML4::ALK	Fusion AND ALK I1171N AND ALK L1196M	Predictive	Supports	Resistance	Malignant Pleural Mesothelioma	Alectinib	Hu et al., 2020
A	NF1	Mutation	Predictive	Supports	Sensitivity/Response	Plexiform Neurofibroma	Selumetinib	Gross et al., 2020
A	BRCA1	Mutation	Predictive	Supports	Sensitivity/Response	Castration-resistant Prostate Carcinoma	Olaparib	de Bono et al., 2020
A	CDK12	Mutation	Predictive	Supports	Sensitivity/Response	Castration-resistant Prostate Carcinoma	Olaparib	de Bono et al., 2020
A	v::ALK	Fusion	Predictive	Supports	Sensitivity/Response	Anaplastic Large Cell Lymphoma	Crizotinib	Mossé et al., 2017
A	EGFR	Exon 20 Insertion	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Amivantamab	Park et al., 2021
A	EGFR	Exon 20 Insertion	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Mobocertinib	Zhou et al., 2021
A	FGFR2::v	Fusion OR FGFR2::? Fusion	Predictive	Supports	Sensitivity/Response	Cholangiocarcinoma	Infigratinib	Javle et al., 2021
A	v::RET	Fusion	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Pralsetinib	Gainor et al., 2021
A	v::RET	Fusion	Predictive	Supports	Sensitivity/Response	Thyroid Cancer	Pralsetinib	Subbiah et al., 2021
A	BRAF	V600	Predictive	Supports	Sensitivity/Response	Melanoma	Atezolizumab,Vemurafenib,Cobimetinib	Gutzmer et al., 2020

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