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	BCR::ABL1	Fusion AND ABL1 E255V	Predictive	Supports	Resistance	Chronic Myeloid Leukemia	Imatinib Mesylate,Nilotinib	Hughes et al., 2009
C	EBF1::PDGFRB	Fusion	Predictive	Supports	Sensitivity/Response	Childhood B-cell Acute Lymphoblastic Leukemia	Imatinib	Lengline et al., 2013
C	BCR::ABL1	Fusion AND ABL1 F317L	Predictive	Supports	Resistance	Chronic Myeloid Leukemia	Imatinib Mesylate	Khoury et al., 2012
C	BCR::ABL1	Fusion AND ABL1 T315I	Predictive	Supports	Resistance	Chronic Myeloid Leukemia	Imatinib Mesylate	Khoury et al., 2012
C	BCR::ABL1	Fusion AND ABL1 Y253H	Predictive	Supports	Resistance	Chronic Myeloid Leukemia	Imatinib Mesylate	Khoury et al., 2012
C	BCR::ABL1	Fusion AND ABL1 G250E	Predictive	Supports	Resistance	Chronic Myeloid Leukemia	Imatinib	Khoury et al., 2012
B	ABL1	TKD Mutation	Predictive	Does Not Support	Resistance	Chronic Myeloid Leukemia	Bosutinib	Khoury et al., 2012
B	ABL1	Non-P-Loop Mutation	Predictive	Does Not Support	Resistance	Chronic Myeloid Leukemia	Bosutinib	Khoury et al., 2012
D	AGGF1::PDGFRB	Fusion AND PDGFRB C843G	Predictive	Supports	Sensitivity/Response	Childhood B-cell Acute Lymphoblastic Leukemia	CHZ868	Zhang et al., 2018
C	GOLGA5::JAK2	Fusion	Predictive	Supports	Sensitivity/Response	B-lymphoblastic Leukemia/lymphoma, BCR-ABL1–like	Ruxolitinib	Ding et al., 2018
D	PAX3::FOXO1	Fusion	Predictive	Supports	Sensitivity/Response	Alveolar Rhabdomyosarcoma	BET Inhibitor	Gryder et al., 2017
D	PARP1	OVEREXPRESSION	Predictive	Supports	Sensitivity/Response	Malignant Peripheral Nerve Sheath Tumor	Olaparib	Kivlin et al., 2016
C	BRD4::NUTM1	Fusion	Predictive	Supports	Sensitivity/Response	NUT Midline Carcinoma	Birabresib	Stathis et al., 2016
B	BRD4::NUTM1	Fusion	Diagnostic	Supports	Positive	NUT Midline Carcinoma		Stelow et al., 2008
C	FIP1L1::PDGFRA	Fusion AND PDGFRA T674I	Predictive	Supports	Resistance	Myeloid And Lymphoid Neoplasms With Eosinophilia And Abnormalities Of PDGFRA, PDGFRB, And FGFR1	Imatinib	Metzgeroth et al., 2012
C	BCR::ABL1	Fusion AND ABL1 V379I	Predictive	Supports	Resistance	Chronic Myeloid Leukemia	Imatinib Mesylate	Guilhot et al., 2007
B	RET	Overexpression	Prognostic	Supports	Poor Outcome	Lung Adenocarcinoma		Kosari et al., 2014
C	RET	V804M	Predictive	Supports	Sensitivity/Response	Medullary Thyroid Carcinoma	Selpercatinib	Alexander E. Drilon, 2018, ASCO Annual Meeting, Abstract 102
B	RET	Mutation	Predictive	Supports	Sensitivity/Response	Medullary Thyroid Carcinoma	Selpercatinib	Alexander E. Drilon, 2018, ASCO Annual Meeting, Abstract 102
D	TP53	Y220C	Functional	Does Not Support	Loss of Function			Billant et al., 2016
D	TP53	G245S	Functional	Supports	Dominant Negative			Billant et al., 2016
D	TP53	R248Q	Functional	Supports	Dominant Negative			Billant et al., 2016
D	TP53	R249S	Functional	Supports	Dominant Negative			Billant et al., 2016
C	VHL	G104V (c.311G>T)	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease		Bahougne et al., 2018
C	VHL	R161Q (c.482G>A)	Predisposing	Supports	Predisposition	Von Hippel-Lindau Disease		Igaki et al., 2018
C	CBL	Y371H	Predisposing	Supports	Predisposition	Juvenile Myelomonocytic Leukemia		Pérez et al., 2010
E	TP53	C238Y	Prognostic	Supports	Poor Outcome	Breast Cancer		Alsner et al., 2000
B	PIK3CA	Mutation	Predictive	Supports	Sensitivity/Response	Head And Neck Squamous Cell Carcinoma	Aspirin,Celecoxib,Sulindac	Hedberg et al., 2019
B	PIK3CA	Exon 21 Mutation OR PIK3CA Exon 10 Mutation	Prognostic	Supports	Poor Outcome	Rectum Cancer		He et al., 2009
B	CDKN1A	rs1801270	Predisposing	Supports	Predisposition	Retinoblastoma		Carvalho et al., 2013
C	RCSD1::ABL1	Fusion	Predictive	Supports	Sensitivity/Response	B-lymphoblastic Leukemia/lymphoma, BCR-ABL1–like	Imatinib	Roberts et al., 2014
D	RCSD1::ABL1	Fusion	Predictive	Supports	Sensitivity/Response	B-lymphoblastic Leukemia/lymphoma, BCR-ABL1–like	Dasatinib	Roberts et al., 2014
D	RCSD1::ABL2	Fusion	Predictive	Supports	Sensitivity/Response	B-lymphoblastic Leukemia/lymphoma, BCR-ABL1–like	Dasatinib	Roberts et al., 2014
C	SSBP2::JAK2	Fusion	Predictive	Supports	Sensitivity/Response	B-lymphoblastic Leukemia/lymphoma, BCR-ABL1–like	Ruxolitinib	Roberts et al., 2014
B	BRAF	V600E	Predictive	Supports	Sensitivity/Response	Colorectal Cancer	Cetuximab,Encorafenib,Binimetinib	Scott Kopetz, 2019, Gastrointestinal Cancers Symposium, Abstract 688
B	BRAF	V600E	Predictive	Supports	Sensitivity/Response	Biliary Tract Cancer	Trametinib,Dabrafenib	Zev A. Wainberg, 2019, Gastrointestinal Cancers Symposium, Abstract 187
B	MET	Exon 14 Skipping Mutation	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Tepotinib	Enriqueta Felip, 2018, ASCO Annual Meeting, Abstract 9016
A	IDH1	Mutation	Predictive	Supports	Sensitivity/Response	Acute Myeloid Leukemia	Ivosidenib	DiNardo et al., 2018
B	PAX5	P80R	Diagnostic	Supports	Positive	B-lymphoblastic Leukemia With PAX5 P.P80R		Li et al., 2018
B	PAX5	P80R	Diagnostic	Supports	Positive	B-lymphoblastic Leukemia With PAX5 P.P80R		Gu et al., 2019
B	v::NTRK1	Fusion	Diagnostic	Supports	Positive	Lipofibromatosis-like Neural Tumor		Agaram et al., 2016
B	ERBB2	Amplification	Predictive	Supports	Sensitivity/Response	Colorectal Cancer	Pertuzumab,Trastuzumab	Meric-Bernstam et al., 2019
A	PIK3CA	E542K	Predictive	Supports	Sensitivity/Response	Breast Cancer	Alpelisib,Fulvestrant	André et al., 2019
B	FGFR2::v	Fusion OR FGFR2::? Fusion	Predictive	Supports	Sensitivity/Response	Intrahepatic Cholangiocarcinoma	Derazantinib	Mazzaferro et al., 2019
B	CCNE1	Underexpression	Predictive	Supports	Sensitivity/Response	Breast Cancer	Fulvestrant,Palbociclib	Turner et al., 2019
D	KIAA1549::BRAF	Fusion	Oncogenic	Supports	Oncogenicity	Pilocytic Astrocytoma		Jones et al., 2008
B	BRAF	V600	Predictive	Supports	Sensitivity/Response	Colorectal Cancer	Vemurafenib,Cetuximab,Irinotecan	Scott Kopetz, 2017, ASCO Annual Meeting, Abstract 3505
B	v::ALK	Fusion	Predictive	Supports	Sensitivity/Response	Anaplastic Large Cell Lymphoma	Crizotinib	Mossé et al., 2017
B	v::ALK	Fusion	Predictive	Supports	Sensitivity/Response	Inflammatory Myofibroblastic Tumor	Crizotinib	Mossé et al., 2017
D	KIT	N822K	Predictive	Does Not Support	Sensitivity/Response	Acute Myeloid Leukemia	Sorafenib,Sunitinib	Gozgit et al., 2011

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