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	BCR::ABL1	Fusion AND ABL1 F317L	Predictive	Supports	Resistance	Chronic Myeloid Leukemia	Dasatinib	Jabbour et al., 2008
B	BCR::ABL1	Fusion AND ABL1 T315I	Predictive	Supports	Sensitivity/Response	Chronic Myeloid Leukemia	Ponatinib	Miller et al., 2014
D	EGFR	T790M	Predictive	Supports	Resistance	Lung Cancer	Multikinase Inhibitor AEE788,Gefitinib	Yun et al., 2008
B	TERT	C228T	Prognostic	Supports	Poor Outcome	Papillary Thyroid Carcinoma		Xing et al., 2014
B	BRAF	V600E	Prognostic	Supports	Poor Outcome	Papillary Thyroid Carcinoma		Xing et al., 2014
D	FGFR1	Amplification	Predictive	Supports	Sensitivity/Response	Lung Squamous Cell Carcinoma	PD173074	Weiss et al., 2010
A	KRAS	Exon 2 Mutation	Predictive	Supports	Resistance	Colorectal Cancer	Cetuximab	Karapetis et al., 2008
B	ERBB2	Amplification	Predictive	Supports	Sensitivity/Response	Her2-receptor Positive Breast Cancer	Docetaxel,Trastuzumab,Pertuzumab	Swain et al., 2015
A	PML::RARA	Fusion	Diagnostic	Supports	Positive	Acute Promyelocytic Leukemia		Diverio et al., 1995
A	PML::RARA	Fusion	Predictive	Supports	Sensitivity/Response	Acute Promyelocytic Leukemia	Tretinoin,Arsenic Trioxide	Degos et al., 2001
C	TSC2	Q1178*	Predictive	Supports	Sensitivity/Response	Thyroid Gland Carcinoma	Everolimus	Wagle et al., 2014
C	MTOR	F2108L	Predictive	Supports	Resistance	Thyroid Gland Carcinoma	Everolimus	Wagle et al., 2014
A	v::ALK	Fusion	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Crizotinib	Kwak et al., 2010
D	EML4::ALK	Fusion	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	WHI-P154	Soda et al., 2007
A	v::ALK	Fusion	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Crizotinib	Shaw et al., 2013
A	v::ALK	Fusion	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Crizotinib	Solomon et al., 2014
D	NPM1::ALK	Fusion	Predictive	Supports	Sensitivity/Response	Anaplastic Large Cell Lymphoma	Crizotinib	Christensen et al., 2007
A	v::ALK	Fusion	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Alectinib	Shaw et al., 2016
B	BRAF	V600E	Predictive	Supports	Sensitivity/Response	Melanoma	Vemurafenib	McArthur et al., 2014
A	BRAF	V600E	Predictive	Supports	Sensitivity/Response	Skin Melanoma	Vemurafenib	Chapman et al., 2011
A	BRAF	V600	Predictive	Supports	Sensitivity/Response	Skin Melanoma	Trametinib,Dabrafenib	Robert et al., 2015
B	MAP2K7	E116K	Prognostic	Supports	Poor Outcome	Lung Cancer		Qiu et al., 2016
A	v::PDGFRA	Fusion	Diagnostic	Supports	Negative	Chronic Myelomonocytic Leukemia		Arber et al., 2016
A	v::PDGFRB	Fusion	Diagnostic	Supports	Negative	Chronic Myelomonocytic Leukemia		Arber et al., 2016
A	v::FGFR1	Fusion	Diagnostic	Supports	Negative	Chronic Myelomonocytic Leukemia		Arber et al., 2016
A	v::PDGFRA	Fusion	Diagnostic	Supports	Positive	Myeloid And Lymphoid Neoplasms With Eosinophilia And Abnormalities Of PDGFRA, PDGFRB, And FGFR1		Arber et al., 2016
A	v::PDGFRB	Fusion	Diagnostic	Supports	Positive	Hematologic Cancer		Arber et al., 2016
A	v::FGFR1	Fusion	Diagnostic	Supports	Positive	Hematologic Cancer		Arber et al., 2016
A	PCM1::JAK2	Fusion	Diagnostic	Supports	Positive	Hematologic Cancer		Arber et al., 2016
B	TP53	Mutation	Prognostic	Supports	Poor Outcome	Chronic Lymphocytic Leukemia		Zenz et al., 2010
B	TP53	Mutation	Prognostic	Supports	Poor Outcome	Chronic Lymphocytic Leukemia		Baliakas et al., 2015
B	NOTCH1	Mutation	Prognostic	Does Not Support	Poor Outcome	Chronic Lymphocytic Leukemia		Baliakas et al., 2015
B	SF3B1	Mutation	Prognostic	Supports	Poor Outcome	Chronic Lymphocytic Leukemia		Baliakas et al., 2015
A	TP53	Mutation	Prognostic	Supports	Poor Outcome	Chronic Lymphocytic Leukemia		Nadeu et al., 2016
B	CEBPA	BIALLELIC INACTIVATION	Prognostic	Supports	Better Outcome	Acute Myeloid Leukemia		Papaemmanuil et al., 2016
B	ASXL1	Mutation	Prognostic	Supports	Poor Outcome	Acute Myeloid Leukemia		Papaemmanuil et al., 2016
B	SRSF2	MUTATION	Prognostic	Supports	Poor Outcome	Acute Myeloid Leukemia		Papaemmanuil et al., 2016
B	FLT3	ITD	Prognostic	Supports	Poor Outcome	Acute Myeloid Leukemia		Papaemmanuil et al., 2016
A	NOTCH1	Mutation	Prognostic	Supports	Poor Outcome	Chronic Lymphocytic Leukemia		Nadeu et al., 2016
A	ATM	Mutation	Prognostic	Supports	Poor Outcome	Chronic Lymphocytic Leukemia		Nadeu et al., 2016
A	SF3B1	Mutation	Prognostic	Supports	Poor Outcome	Chronic Lymphocytic Leukemia		Nadeu et al., 2016
A	EGFR	T790M	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Osimertinib	Greig, 2016
D	SGK1	Overexpression	Predictive	Supports	Resistance	Breast Cancer	Alpelisib	Castel et al., 2016
A	UGT1A1	UGT1A1*28	Predictive	Supports	Adverse Response	Cancer	Belinostat	Goey et al., 2016
A	DPYD	DPYD*2A HOMOZYGOSITY	Predictive	Supports	Adverse Response	Cancer	Capecitabine,Tegafur,Fluorouracil	Caudle et al., 2013
A	DPYD	DPYD*13 HOMOZYGOSITY	Predictive	Supports	Adverse Response	Cancer	Fluorouracil,Capecitabine,Tegafur	Caudle et al., 2013
A	DPYD	RS67376798 HOMOZYGOSITY	Predictive	Supports	Adverse Response	Cancer	Fluorouracil,Tegafur,Capecitabine	Caudle et al., 2013
A	EGFR	T790M	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Osimertinib	Mok et al., 2017
C	RUNX1	A107P	Predisposing	Supports	Predisposition	Acute Myeloid Leukemia		Walker et al., 2002
B	EGFR	Mutation	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Gefitinib	Mitsudomi et al., 2010

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