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	PIK3CA	Mutation OR PTEN Mutation OR AKT1 Mutation	Predictive	Supports	Sensitivity/Response	Breast Cancer	Fulvestrant,Capivasertib	Turner et al., 2023
B	NF1	Mutation OR GNA11 Q209L	Predictive	Does Not Support	Sensitivity/Response	Cancer	Trametinib	Wisinski et al., 2023
B	Kataegis	Positive	Prognostic	Supports	Better Outcome	Breast Cancer		D'Antonio et al., 2016
B	CK	High	Prognostic	Supports	Poor Outcome	Chronic Lymphocytic Leukemia		Baliakas et al., 2019
B	PIK3CA	Mutation OR RB1 Mutation OR ESR1 Mutation	Predictive	Supports	Resistance	Breast Cancer	Palbociclib,Fulvestrant	O'Leary et al., 2018
C	EWSR1::CREB3L1	Fusion	Diagnostic	Supports	Positive	Sclerosing Epithelioid Fibrosarcoma		Arbajian et al., 2014
B	EWSR1::CREB3L1	Fusion	Diagnostic	Supports	Positive	Sclerosing Epithelioid Fibrosarcoma		Arbajian et al., 2017
C	EWSR1::CREB3L1	Fusion	Diagnostic	Supports	Positive	Sclerosing Epithelioid Fibrosarcoma		Prieto-Granada et al., 2015
C	FUS::CREB3L2	Fusion	Diagnostic	Supports	Positive	Low-grade Fibromyxoid Sarcoma		Arbajian et al., 2014
B	FUS::CREB3L2	Fusion	Diagnostic	Supports	Positive	Low-grade Fibromyxoid Sarcoma		Matsuyama et al., 2006
B	MN1	Rearrangement	Diagnostic	Supports	Positive	Astroblastoma, MN1-altered		Mhatre et al., 2019
B	BCR::ABL1	Fusion	Diagnostic	Supports	Positive	B-lymphoblastic Leukemia/lymphoma With BCR-ABL1		Bloomfield et al., 1986
B	MNX1::ETV6	Fusion	Diagnostic	Supports	Positive	Acute Myeloid Leukemia With MNX1::ETV6 Fusion		Slater et al., 2001
B	MNX1::ETV6	Fusion	Diagnostic	Supports	Positive	Acute Myeloid Leukemia With MNX1::ETV6 Fusion		von Bergh et al., 2006
B	MNX1::ETV6	Fusion	Diagnostic	Supports	Positive	Acute Myeloid Leukemia With MNX1::ETV6 Fusion		Espersen et al., 2018
D	BRD4::NUTM1	Fusion	Predictive	Supports	Sensitivity/Response	NUT Midline Carcinoma	Panobinostat	Schwartz et al., 2011
C	NTRK1	Amplification	Predictive	Supports	Sensitivity/Response	Esophageal Carcinoma	Larotrectinib	Hempel et al., 2020
C	NPM1::MLF1	Fusion	Diagnostic	Supports	Positive	Acute Myeloid Leukemia With NPM1::MLF1 Fusion		Shiba et al., 2019
B	KAT6A::CREBBP	Fusion	Diagnostic	Supports	Positive	AML With KAT6A::CREBBP Fusion		Serravalle et al., 2010
C	KAT6A::CREBBP	Fusion	Diagnostic	Supports	Positive	AML With KAT6A::CREBBP Fusion		Barrett et al., 2017
B	MTAP	Deletion	Predictive	Supports	Sensitivity/Response	Solid Tumor	Anvumetostat	Rodon et al., 2024
B	TCF3::HLF	Fusion	Diagnostic	Supports	Positive	B-lymphoblastic Leukemia/lymphoma With TCF3::HLF Fusion		Li et al., 2018
B	TCF3::HLF	Fusion	Diagnostic	Supports	Positive	B-lymphoblastic Leukemia/lymphoma With TCF3::HLF Fusion		Zerkalenkova et al., 2023
B	CEBPA	Mutation	Diagnostic	Supports	Positive	Acute Myeloid Leukemia With Mutated CEBPA		Tarlock et al., 2021
B	MEF2D::v	Fusion	Diagnostic	Supports	Positive	B-lymphoblastic Leukemia With MEF2D Rearrangement		Ohki et al., 2023
D	CEBPA	Mutation	Diagnostic	Supports	Positive	Acute Myeloid Leukemia With Mutated CEBPA		Braun et al., 2019
B	IGH::IL3	Fusion	Diagnostic	Supports	Positive	B-lymphoblastic Leukemia/lymphoma With IGH::IL3 Fusion		Fournier et al., 2019
B	LRP1B	Loss-of-function	Predictive	Supports	Sensitivity/Response	Solid Tumor	Immune Checkpoint Inhibitor	Brown et al., 2021
B	v::IRF4	Fusion	Diagnostic	Supports	Positive	Large B-cell Lymphoma With IRF4 Rearrangement		Au-Yeung et al., 2020
A	v::JAK2	Fusion	Diagnostic	Supports	Positive	B-lymphoblastic Leukemia/lymphoma, BCR-ABL1–like		Boer et al., 2017
C	FUS::ERG	Fusion	Diagnostic	Supports	Positive	Acute Myeloid Leukaemia With FUS::ERG Fusion		Zerkalenkova et al., 2018
C	SMARCB1	LOSS OF NUCLEAR PROTEIN EXPRESSION	Diagnostic	Supports	Positive	Cribriform Neuroepithelial Tumor		Hasselblatt et al., 2009
C	SMARCB1	LOSS OF NUCLEAR PROTEIN EXPRESSION	Diagnostic	Supports	Positive	Cribriform Neuroepithelial Tumor		Gessi et al., 2015
B	v::TFCP2	Fusion	Diagnostic	Supports	Positive	Spindle Cell Rhabdomyosarcoma		Le Loarer et al., 2020
B	v::NR4A3	Fusion	Diagnostic	Supports	Positive	Acinic Cell Carcinoma		Wang et al., 2022
C	v::NR4A3	Fusion	Diagnostic	Supports	Positive	Acinic Cell Carcinoma		Cole et al., 2023
C	EGFR::RAD51	e24::e4	Predictive	Supports	Sensitivity/Response	Lung Adenocarcinoma	Afatinib	Raez et al., 2018
C	EGFR::RAD51	Fusion	Predictive	Supports	Sensitivity/Response	Lung Adenocarcinoma	Erlotinib,Osimertinib	Di Federico et al., 2022
C	EGFR::RAD51	Fusion	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Gefitinib	Di Federico et al., 2022
C	EGFR::RAD51	Fusion	Predictive	Supports	Sensitivity/Response	Lung Adenocarcinoma	Osimertinib	Lai et al., 2024
B	IGH::MYC	Fusion	Diagnostic	Supports	Positive	B-lymphoblastic Leukemia With MYC Rearrangement		Wagener et al., 2018
C	IGH::MYC	Fusion	Diagnostic	Supports	Positive	B-lymphoblastic Leukemia With MYC Rearrangement		Li et al., 2018
C	IGH::MYC	Fusion	Diagnostic	Supports	Positive	B-lymphoblastic Leukemia With MYC Rearrangement		Yoshida et al., 2022
B	MECOM	rearrangement	Diagnostic	Supports	Positive	Acute Myeloid Leukemia With MECOM Rearrangement		Tang et al., 2023
B	MECOM	rearrangement	Diagnostic	Supports	Positive	Acute Myeloid Leukemia With MECOM Rearrangement		Baldazzi et al., 2016
B	MECOM	rearrangement	Diagnostic	Supports	Positive	Acute Myeloid Leukemia With MECOM Rearrangement		Ottema et al., 2020
C	COL1A1::PDGFB	Fusion	Diagnostic	Supports	Positive	Dermatofibrosarcoma Protuberans		Craver et al., 2006
B	v::ZNF384	Fusion	Diagnostic	Supports	Positive	B-lymphoblastic Leukaemia/lymphoma With Other Defined Genetic Alterations		Hirabayashi et al., 2021
B	v::ZNF384	Fusion	Diagnostic	Supports	Positive	B-lymphoblastic Leukaemia/lymphoma With Other Defined Genetic Alterations		Janet et al., 2021
B	FGFR1	Amplification	Prognostic	Supports	Poor Outcome	Breast Cancer		Erber et al., 2020

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