CBL

Cbl proto-oncogene

Explore in graph →CI-GENE-00032440HGNC:1541 ENSG00000110395 NCBI 867 CIViC Cancer geneApproved

Curated evidence

Clinical evidence (8)

CIViC items involving this gene, grouped by molecular profile and therapy, with native levels and directions. 50 items per page.

civicCuratedShowing 1–8 of 8 evidence items · levels, directions and significance as curated at the source; each row links to its CIViC record.

Therapy	Cancer	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
CBL c.1477C>T1
(predisposing)	Acute Myeloid LeukemiaCURATED_BROADER	Predisposing	C	Supports Predisposition	1	submitted

Cohorts

Alteration frequency by cohort (93)

Frequency = cases affected / cases profiled within one cohort. Cohorts are never pooled.

cbioportalObserved93 cohort rows (showing 43, sorted by frequency) · frequency = affected / profiled, as published by each cohort; cohorts are not pooled. Hover a row badge for its release.

Cohort	Mapped cancer	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Rank in cohort	Source
Breast Cancer (MSK, NPJ Breast Cancer 2019) brca_mskcc_2019	Invasive Breast Carcinoma	Ssm	1

Literature

Linked publications (1)

25 per page, newest first.

pubmedPublishedShowing 1–1 of 1 publications · bibliographic data as recorded by PubMed; abstracts are not reproduced.

Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia.
· J Med Genet · 2010 · PMID 20543203 · validated civic_curation pubmed

CBL Mutation1
SU11274	Lung Non-Small Cell CarcinomaCURATED_BROADER	Predictive	D	Supports Sensitivity Response	4	submitted	EID7294 In this preclinical study, overexpression of CBL mutations S80N/H94Y, Q249E, V391I, and W802* in A549 cell line as well as sh-RNA knockdown of CBL (sh-CBL) in H358 cells increased MET but not EGFR exp… (full text at CIViC) PMID 28835699 · Tan et al., 2017 · Open in CIViC	civic

CBL Q249E1
SU11274	Lung Non-Small Cell CarcinomaCURATED_BROADER	Predictive	D	Supports Sensitivity Response	2	submitted	EID7295 In this preclinical study, overexpression of CBL mutations S80N/H94Y, Q249E, V391I, and W802* in A549 cell line as well as sh-RNA knockdown of CBL (sh-CBL) in H358 cells increased MET but not EGFR exp… (full text at CIViC) PMID 28835699 · Tan et al., 2017 · Open in CIViC	civic

CBL H94Y + CBL S80N1
SU11274	Lung Non-Small Cell CarcinomaCURATED_BROADER	Predictive	D	Supports Sensitivity Response	2	submitted	EID7296 In this preclinical study, overexpression of CBL mutations S80N/H94Y, Q249E, V391I, and W802* in A549 cell line as well as sh-RNA knockdown of CBL (sh-CBL) in H358 cells increased MET but not EGFR exp… (full text at CIViC) PMID 28835699 · Tan et al., 2017 · Open in CIViC	civic

CBL V391I1
SU11274	Lung Non-Small Cell CarcinomaCURATED_BROADER	Predictive	D	Supports Sensitivity Response	2	submitted	EID7297 In this preclinical study, overexpression of CBL mutations S80N/H94Y, Q249E, V391I, and W802* in A549 cell line as well as sh-RNA knockdown of CBL (sh-CBL) in H358 cells increased MET but not EGFR exp… (full text at CIViC) PMID 28835699 · Tan et al., 2017 · Open in CIViC	civic

CBL W802*1
SU11274	Lung Non-Small Cell CarcinomaCURATED_BROADER	Predictive	D	Supports Sensitivity Response	2	submitted	EID7298 In this preclinical study, overexpression of CBL mutations S80N/H94Y, Q249E, V391I, and W802* in A549 cell line as well as sh-RNA knockdown of CBL (sh-CBL) in H358 cells increased MET but not EGFR exp… (full text at CIViC) PMID 28835699 · Tan et al., 2017 · Open in CIViC	civic

CBL Y371H2
(predisposing)	Juvenile Myelomonocytic Leukemia	Predisposing	C	Supports Predisposition	3	accepted	EID7147 Three patients displayed variable developmental conditions with predisposition to JMML. All cases included a copy neutral loss of heterozygosity of the 11q23 chromosomal region, encompassing the CBL l… (full text at CIViC) PMID 20543203 · Pérez et al., 2010 · Open in CIViC	civic
(functional)	—UNRESOLVED	Functional	E	Supports Loss Of Function	3	submitted	EID7146 JMML is characterized by hypersensitivity to granulocyte-macrophage colony-stimulating factor (GM-CSF). CBL linker and RING finger mutants, such as Y371H, lead to enhanced GM-CSF signaling due to elev… (full text at CIViC) PMID 23696637 · Javadi et al., 2013 · Open in CIViC	civic