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
D	v::FGFR1	Fusion	Predictive	Does Not Support	Sensitivity/Response	Acute Myeloid Leukemia	Sunitinib,Sorafenib	Gozgit et al., 2011
D	FIP1L1::PDGFRA	Fusion	Predictive	Supports	Sensitivity/Response	Acute Myeloid Leukemia	Sorafenib,Sunitinib	Gozgit et al., 2011
D	KIT	V560G	Predictive	Supports	Sensitivity/Response	Gastrointestinal Stromal Tumor	Regorafenib Anhydrous,Ponatinib,Imatinib	Garner et al., 2014
D	KIT	K642E	Predictive	Supports	Sensitivity/Response	Gastrointestinal Stromal Tumor	Ponatinib,Sunitinib	Garner et al., 2014
C	ETV6::NTRK3	Fusion	Predictive	Supports	Sensitivity/Response	Congenital Fibrosarcoma	Larotrectinib	DuBois et al., 2018
C	TPM3::NTRK1	Fusion	Predictive	Supports	Sensitivity/Response	Spindle Cell Sarcoma	Larotrectinib	DuBois et al., 2018
D	TP53	R273H	Predictive	Supports	Resistance	Osteosarcoma	Doxorubicin,Methotrexate	Wong et al., 2007
B	NFE2L2	Mutation	Predictive	Supports	Sensitivity/Response	Lung Squamous Cell Carcinoma	Sapanisertib	Paul K. Paik, 2019, ASCO Annual Meeting, Abstract 9085
B	IDH1	Mutation	Predictive	Supports	Sensitivity/Response	Cholangiocarcinoma	Ivosidenib	Lowery et al., 2019
C	RICTOR	Amplification	Predictive	Does Not Support	Sensitivity/Response	Lung Small Cell Carcinoma	Vistusertib	Sehhoon Park, 2019, ASCO Annual Meeting, Abstract 8514
C	KIT	S628N	Predictive	Does Not Support	Sensitivity/Response	Melanoma	Imatinib	Vita et al., 2014
C	CCDC6::RET	Fusion	Predictive	Supports	Sensitivity/Response	Colorectal Cancer	Agerafenib	Pietrantonio et al., 2018
C	CAD::ALK	Fusion	Predictive	Supports	Sensitivity/Response	Colorectal Cancer	Entrectinib	Amatu et al., 2015
D	GOPC::ROS1	e7::e35	Predictive	Supports	Sensitivity/Response	Glioblastoma	Lorlatinib	Davare et al., 2018
B	NF1	Mutation	Predictive	Supports	Sensitivity/Response	Childhood Low-grade Glioma	Selumetinib	Fangusaro et al., 2019
B	FGFR1	Amplification	Predictive	Supports	Sensitivity/Response	Breast Cancer	Lucitanib	Soria et al., 2014
C	ATP1B1::NRG1	Fusion	Predictive	Supports	Sensitivity/Response	Pancreatic Ductal Adenocarcinoma	Afatinib	Jones et al., 2019
C	APP::NRG1	Fusion	Predictive	Supports	Sensitivity/Response	Pancreatic Ductal Adenocarcinoma	Afatinib	Jones et al., 2019
A	ETV6::NTRK3	Fusion	Predictive	Supports	Sensitivity/Response	Solid Tumor	Larotrectinib	Hong et al., 2019
C	MET	R1004G	Predictive	Supports	Sensitivity/Response	Head And Neck Cancer	Crizotinib	Chu et al., 2019
D	TP53	R282W	Functional	Does Not Support	Neomorphic			Boettcher et al., 2019
D	ROS1	G2032R AND SLC4A4::ROS1 Fusion	Predictive	Supports	Sensitivity/Response	Lung Adenocarcinoma	DS-6501b	Katayama et al., 2019
B	IKZF1	Deletion	Prognostic	Supports	Poor Outcome	B-lymphoblastic Leukemia/lymphoma		Tran et al., 2018
D	BRAF	G466V	Predictive	Supports	Sensitivity/Response	Colorectal Cancer	Irinotecan,Panitumumab	Yao et al., 2017
D	BRAF	G466V	Predictive	Does Not Support	Sensitivity/Response	Colorectal Cancer	Vemurafenib	Yao et al., 2017
D	BRAF	G466V	Predictive	Does Not Support	Sensitivity/Response	Solid Tumor	Vemurafenib	Yao et al., 2017
D	BRAF	D594G	Predictive	Does Not Support	Sensitivity/Response	Cancer	Vemurafenib	Yao et al., 2017
D	BRAF	L525R	Functional	Supports	Gain of Function			Shinozaki et al., 2017
B	FGFR3	Mutation	Predictive	Supports	Sensitivity/Response	Urinary Bladder Cancer	Cisplatin,Gemcitabine	Yang et al., 2018
D	KRAS	G12C	Predictive	Supports	Sensitivity/Response	Solid Tumor	Adagrasib	Kyriakos P. Papadopoulos, 2019, ASCO Annual Meeting, Abstract TPS3161
C	BRAF	V600D	Predictive	Supports	Sensitivity/Response	Melanoma	BRAF Inhibitor	Menzer et al., 2019
C	BRAF	V600D	Predictive	Supports	Sensitivity/Response	Melanoma	Mitogen-Activated Protein Kinase Kinase Inhibitor,BRAF Inhibitor	Menzer et al., 2019
C	BRAF	V600_K601>E	Predictive	Supports	Sensitivity/Response	Melanoma	Mitogen-Activated Protein Kinase Kinase Inhibitor,BRAF Inhibitor	Menzer et al., 2019
B	BRAF	G469	Predictive	Supports	Sensitivity/Response	Melanoma	BRAF Inhibitor,Mitogen-Activated Protein Kinase Kinase Inhibitor	Menzer et al., 2019
C	BRAF	A598V	Predictive	Does Not Support	Sensitivity/Response	Melanoma	BRAF Inhibitor,Mitogen-Activated Protein Kinase Kinase Inhibitor	Menzer et al., 2019
C	ERBB2	Amplification	Predictive	Supports	Sensitivity/Response	Cholangiocarcinoma	Trastuzumab,Pertuzumab	Yarlagadda et al., 2019
B	ERBB2	Amplification	Predictive	Supports	Sensitivity/Response	Stomach Cancer	Trastuzumab Deruxtecan	Shitara et al., 2019
D	SNX2::ABL1	Fusion	Predictive	Supports	Resistance	B-lymphoblastic Leukemia/lymphoma	Imatinib,Dasatinib	Tomita et al., 2014
C	ATF7IP::JAK2	Fusion	Diagnostic	Supports	Positive	B-lymphoblastic Leukemia/lymphoma, BCR-ABL1–like		Roberts et al., 2014
C	EBF1::JAK2	Fusion	Diagnostic	Supports	Positive	B-lymphoblastic Leukemia/lymphoma, BCR-ABL1–like		Roberts et al., 2014
C	PPFIBP1::JAK2	Fusion	Diagnostic	Supports	Positive	B-lymphoblastic Leukemia/lymphoma, BCR-ABL1–like		Roberts et al., 2014
C	STRN3::JAK2	Fusion	Diagnostic	Supports	Positive	B-lymphoblastic Leukemia/lymphoma, BCR-ABL1–like		Roberts et al., 2014
C	TPR::JAK2	Fusion	Diagnostic	Supports	Positive	B-lymphoblastic Leukemia/lymphoma, BCR-ABL1–like		Roberts et al., 2014
C	ETV6::JAK2	Fusion	Diagnostic	Supports	Positive	B-lymphoblastic Leukemia/lymphoma, BCR-ABL1–like		Roberts et al., 2014
C	BCR::JAK2	Fusion	Diagnostic	Supports	Positive	B-lymphoblastic Leukemia/lymphoma, BCR-ABL1–like		Roberts et al., 2014
B	PAX5::JAK2	Fusion	Diagnostic	Supports	Positive	B-lymphoblastic Leukemia/lymphoma, BCR-ABL1–like		Roberts et al., 2014
C	PAX5::JAK2	Fusion	Diagnostic	Supports	Positive	B-lymphoblastic Leukemia/lymphoma, BCR-ABL1–like		Reshmi et al., 2017
C	TERF2::JAK2	Fusion	Diagnostic	Supports	Positive	B-lymphoblastic Leukemia/lymphoma, BCR-ABL1–like		Roberts et al., 2014
C	PCM1::JAK2	Fusion	Diagnostic	Supports	Positive	B-lymphoblastic Leukemia/lymphoma, BCR-ABL1–like		Reshmi et al., 2017
C	USP25::JAK2	Fusion	Diagnostic	Supports	Positive	B-lymphoblastic Leukemia/lymphoma, BCR-ABL1–like		Reshmi et al., 2017

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