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	FUS::NFATC2	Fusion	Diagnostic	Supports	Positive	Round Cell Sarcoma With EWSR1-non-ETS Fusion		Diaz-Perez et al., 2019
C	LMNA::NTRK1	Fusion	Diagnostic	Supports	Positive	Lipofibromatosis-like Neural Tumor		Malik et al., 2020
B	CDKN2A	Loss OR CDKN2A Mutation	Predictive	Does Not Support	Sensitivity/Response	Pancreatic Cancer	Palbociclib	Al Baghdadi et al., 2019
B	CDKN2A	Loss OR CDKN2A Mutation	Predictive	Does Not Support	Sensitivity/Response	Biliary Tract Cancer	Palbociclib	Al Baghdadi et al., 2019
B	RB1	Wildtype AND ( CDKN2A Loss OR CDKN2A Mutation )	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Palbociclib	Ahn et al., 2020
B	BRCA1	Mutation OR BRCA2 Mutation	Predictive	Supports	Sensitivity/Response	Prostate Cancer	Olaparib	Yang et al., 2023
B	FLT3	Amplification	Predictive	Does Not Support	Sensitivity/Response	Colorectal Cancer	Sunitinib	Al Baghdadi et al., 2020
B	ERBB2	Amplification	Predictive	Supports	Sensitivity/Response	Colorectal Cancer	Trastuzumab,Pertuzumab	Gupta et al., 2022
B	ERBB2	Mutation OR ERBB3 Mutation	Predictive	Does Not Support	Sensitivity/Response	Colorectal Cancer	Pertuzumab,Trastuzumab	Gupta et al., 2022
B	BRAF	V600E OR BRAF K601E	Predictive	Supports	Sensitivity/Response	Colorectal Cancer	Cobimetinib,Vemurafenib	Klute et al., 2022
B	BRAF	V600E	Predictive	Supports	Sensitivity/Response	Cancer	Dabrafenib,Trametinib	Salama et al., 2020
B	NRAS	Mutation	Predictive	Does Not Support	Sensitivity/Response	Solid Tumor	Binimetinib	Cleary et al., 2021
B	ERBB2	Activating Mutation	Predictive	Does Not Support	Sensitivity/Response	Cancer	Afatinib	Bedard et al., 2022
B	PIK3CA	Mutation	Predictive	Supports	Sensitivity/Response	Cancer	Copanlisib	Damodaran et al., 2022
C	PIK3CA	Mutation	Predictive	Does Not Support	Sensitivity/Response	Cancer	Taselisib	Krop et al., 2022
B	BRAF	V600E OR NRAS Mutation OR HRAS Mutation OR KRAS Mutation OR NF1 Mutation	Predictive	Does Not Support	Sensitivity/Response	Cancer	Selumetinib	Eckstein et al., 2022
C	ERBB2	D769Y	Predictive	Supports	Sensitivity/Response	Extramammary Paget Disease	Afatinib	Bedard et al., 2022
C	TPM3::NTRK1	Fusion	Predictive	Supports	Sensitivity/Response	Lung Carcinoma	Larotrectinib	Drilon et al., 2022
B	BRAF	V600E OR NRAS Mutation OR HRAS Mutation OR KRAS Mutation OR NF1 Inactivating Mutation	Predictive	Does Not Support	Sensitivity/Response	Cancer	Selumetinib	Eckstein et al., 2022
C	UFD1::NTRK2	e6::e7	Oncogenic	Does Not Support	Oncogenicity	Osteosarcoma		Ameline et al., 2020
C	VPS18::NTRK3	e4::e1	Oncogenic	Does Not Support	Oncogenicity	Osteosarcoma		Ameline et al., 2020
B	TP53	Mutation	Predictive	Supports	Sensitivity/Response	Cancer	VEGF/VEGFR Inhibitors	Wheler et al., 2016
E	TCF3::PBX1	Fusion	Oncogenic	Supports	Oncogenicity	B-lymphoblastic Leukemia/lymphoma With TCF3-PBX1		Hein et al., 2019
B	COL1A1::PDGFB	Fusion	Diagnostic	Supports	Positive	Dermatofibrosarcoma Protuberans		Peng et al., 2022
B	BRCA1	Loss-of-function OR BAP1 Loss-of-function	Predictive	Supports	Sensitivity/Response	Malignant Mesothelioma	Rucaparib	Fennell et al., 2021
C	TPR::NTRK1	Fusion	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Larotrectinib	Cocco et al., 2021
C	TPR::NTRK1	Fusion	Predictive	Supports	Sensitivity/Response	Papillary Thyroid Carcinoma	Larotrectinib	Chu et al., 2020
A	ERBB2	S310F	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Trastuzumab Deruxtecan	Goto et al., 2023
A	ERBB2	L755A	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Trastuzumab Deruxtecan	Goto et al., 2023
A	ERBB2	G778_P780dup	Predictive	Supports	Sensitivity/Response	Lung Non-small Cell Carcinoma	Trastuzumab Deruxtecan	Goto et al., 2023
B	MYB::QKI	Fusion	Diagnostic	Supports	Positive	Angiocentric Glioma		Qaddoumi et al., 2016
B	BRAF	V600E	Predictive	Supports	Sensitivity/Response	Low Grade Glioma	Vemurafenib	Nicolaides et al., 2020
C	MYB	Rearrangement	Diagnostic	Supports	Positive	Isomorphic Diffuse Glioma		Wefers et al., 2020
B	MYB	Rearrangement	Diagnostic	Supports	Positive	Diffuse Astrocytoma, MYB- Or MYBL1-altered		Qaddoumi et al., 2016
B	MYB	Rearrangement	Diagnostic	Supports	Positive	Diffuse Astrocytoma, MYB- Or MYBL1-altered		Chiang et al., 2019
B	YWHAE::NUTM2A	Fusion OR YWHAE::NUTM2B Fusion OR YWHAE::NUTM2E Fusion	Diagnostic	Supports	Positive	Kidney Clear Cell Sarcoma		O'Meara et al., 2012
B	ARID1A	Loss OR ARID1A Wildtype	Predictive	Does Not Support	Sensitivity/Response	Ovarian Clear Cell Carcinoma	Dasatinib	O'Cearbhaill et al., 2023
B	CBFB::MYH11	Fusion	Diagnostic	Supports	Positive	Acute Myeloid Leukemia With Inv(16)(p13.1q22) Or T(16;16)(p13.1;q22)		Le Beau et al., 1983
C	ETV6::NTRK3	Fusion	Predictive	Supports	Sensitivity/Response	Glioblastoma	Entrectinib	Desai et al., 2022
C	GOPC::ROS1	Fusion	Predictive	Supports	Sensitivity/Response	Diffuse Midline Glioma, H3 K27M-mutant	Entrectinib	Desai et al., 2022
C	EEF1G::ROS1	Fusion	Predictive	Supports	Sensitivity/Response	Desmoplastic Infantile Ganglioglioma / Desmoplastic Infantile Astrocytoma	Entrectinib	Desai et al., 2022
C	TPR::NTRK1	Fusion	Predictive	Supports	Sensitivity/Response	High Grade Glioma	Entrectinib	Desai et al., 2022
C	EML1::NTRK2	Fusion	Predictive	Supports	Sensitivity/Response	Ganglioglioma	Entrectinib	Desai et al., 2022
C	DCTN1::ALK	Fusion	Predictive	Supports	Sensitivity/Response	Inflammatory Myofibroblastic Tumor	Entrectinib	Desai et al., 2022
C	ETV6::NTRK3	Fusion	Predictive	Supports	Sensitivity/Response	Melanoma	Entrectinib	Desai et al., 2022
D	RET	E632_L633del	Oncogenic	Supports	Oncogenicity	Cancer		Ceccherini et al., 1997
D	RET	C634R	Oncogenic	Supports	Oncogenicity	Cancer		Ceccherini et al., 1997
B	RUNX1::RUNX1T1	Fusion	Diagnostic	Supports	Positive	Acute Myeloid Leukemia With T(8;21); (q22; Q22.1)		Erickson et al., 1992
B	RUNX1::RUNX1T1	Fusion	Diagnostic	Supports	Positive	Acute Myeloid Leukemia With T(8;21); (q22; Q22.1)		Hurwitz et al., 1992
B	RUNX1::RUNX1T1	Fusion	Diagnostic	Supports	Positive	Acute Myeloid Leukemia With T(8;21); (q22; Q22.1)		Nakamura et al., 1997

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