Gene

CTNNB1

catenin beta 1

Explore in graph →CI-GENE-00042518HGNC:2514 ENSG00000168036 NCBI 1499 CIViC Cancer geneApproved

Curated evidence

Clinical evidence (48)

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

civicCuratedShowing 1–48 of 48 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
APC Mutation + CTNNB1 Activating MutationAPC CTNNB11
Nirogacestat	Desmoid FibromatosisALIAS	Predictive	A

Cohorts

Alteration frequency by cohort (183)

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

cbioportalObserved183 cohort rows (showing 50, 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
Hepatocellular Adenoma (INSERM, Cancer Cell 2014) liad_inserm_fr_2014	Hepatocellular Adenoma	Ssm	19

Literature

Linked publications (8)

25 per page, newest first.

pubmedPublishedShowing 1–8 of 8 publications · bibliographic data as recorded by PubMed; abstracts are not reproduced.

Specific mutations in the beta-catenin gene (CTNNB1) correlate with local recurrence in sporadic desmoid tumors.
· Am J Pathol · 2008 · PMID 18832571 · validated civic_curation pubmed
CTNNB1 mutation analysis is a useful tool for the diagnosis of desmoid tumors: a study of 260 desmoid tumors and 191 potential morphologic mimics.
· Mod Pathol · 2012 · PMID 22766794 · validated civic_curation pubmed
β-Catenin mutation status and outcomes in sporadic desmoid tumors.
· Oncologist · 2013 · PMID 23960186 · validated civic_curation pubmed
Wnt/Wingless pathway activation and chromosome 6 loss characterize a distinct molecular sub-group of medulloblastomas associated with a favorable prognosis.
· Cell Cycle · 2006 · PMID 17172831 · validated

CTNNB1 Activating Mutation1
Anti-CTLA-4 Monoclonal Antibody + Anti-PD-L1 Monoclonal AntibodySubstitutes	Melanoma	Predictive	D	Supports Resistance	4	accepted	EID2988 Activation of melanoma-cell-intrinsic WNT/β-catenin signalling pathway contributes to a lack of T-cell infiltration in melanoma. Molecular analysis of human metastatic melanoma samples revealed a corr… (full text at CIViC) PMID 25970248 · Spranger et al., 2015 · Open in CIViC	civic

CTNNB1 Activating Mutation1

Anti-CTLA-4 Monoclonal Antibody + Anti-PD-L1 Monoclonal AntibodySubstitutes

Melanoma

Predictive

Supports Resistance

accepted

EID2988

Activation of melanoma-cell-intrinsic WNT/β-catenin signalling pathway contributes to a lack of T-cell infiltration in melanoma. Molecular analysis of human metastatic melanoma samples revealed a corr… (full text at CIViC)

PMID 25970248 · Spranger et al., 2015 · Open in CIViC

CTNNB1 Exon 3 Deletion2
(prognostic)	Malignant Colorectal NeoplasmCURATED_BROADER	Prognostic	B	Does Not Support Better Outcome	4	submitted	EID5517 Frequency of point mutations in exon 3 β-catenin gene is low in our population. It would be interesting to increase the population size to test the clinically relevant influence in the prognosis found… (full text at CIViC) PMID 25313745 · Rafael et al., 2014 · Open in CIViC	civic
(diagnostic)	Hepatoblastoma	Diagnostic	B	Supports Positive	2	submitted	EID9662 Characterization of hepatoblastoma (HB) with whole-exome sequencing identified recurrent CTNNB1 mutations in 12 of 15 tumors. All 12 impacted exon 3, including 4 missense mutations at position G34 (G3… (full text at CIViC) PMID 25135868 · Eichenmüller et al., 2014 · Open in CIViC	civic

CTNNB1 S45F11
(diagnostic)	Wilms TumorCURATED_BROADER	Diagnostic	B	Supports N/A	5	rejected	EID6086 153 primary Wilms tumor samples from 150 patients were analyzed for mutations in the WT1 and CTNNB1 genes. Ten WT samples had the S45F, and 9 of them also had WT1 mutation. This study concluded a high… (full text at CIViC) PMID 11103785 · Maiti et al., 2000 · Open in CIViC	civic
〃	Desmoid FibromatosisALIAS	Diagnostic	B	Supports Positive	4	accepted	EID2974 Desmoid fibromatosis is a rare, nonmetastatic neoplasm marked by local invasiveness and relentless recurrence. Beta-Catenin deregulation has been commonly identified in sporadic desmoids. CTNNB1 mutat… (full text at CIViC) PMID 18832571 · Lazar et al., 2008 · Open in CIViC	civic
〃	Desmoid FibromatosisALIAS	Diagnostic	B	Supports Positive	4	accepted	EID5071 In this study a collection of 254 sporadic desmoid tumors were analysed for presence of mutations in CTNNB1. A mutation in exon 3 of the CTNNB1 gene was identified in 223 (88%) of the 254 cases. The C… (full text at CIViC) PMID 22766794 · Le Guellec et al., 2012 · Open in CIViC	civic
〃	Wilms TumorCURATED_BROADER	Diagnostic	B	Supports N/A	4	rejected	EID6084 This study analysed all five loci (WT1, CTNNB1, WTX, TP53 and the imprinted 11p15 region) in 120 Wilms tumors, and identify CTNNB1 mutation in 15% samples. Data on the 5 loci stratify Wilms tumors int… (full text at CIViC) PMID 22470196 · Scott et al., 2012 · Open in CIViC	civic
〃	Wilms TumorCURATED_BROADER	Diagnostic	B	Supports N/A	4	rejected	EID6085 Exon 3 of the CTNNB1 gene and its flanking regions encompassing mutational hot spots of the gene were examined by PCR-based methods in 24 tumors from 20 Wilms tumor (WT) patients. Six tumors (6/24, 25… (full text at CIViC) PMID 12239584 · Kusafuka et al., 2002 · Open in CIViC	civic
(prognostic)	Desmoid FibromatosisALIAS	Prognostic	B	Supports Poor Outcome	4	accepted	EID9788 This was a multi-institutional retrospective cohort study which looked at the prognostic value of CTNNB1 gene mutations in aggressive fibromatosis (also known as desmoid tumor). The study analyzed 101… (full text at CIViC) PMID 25341748 · van Broekhoven et al., 2015 · Open in CIViC	civic
〃	Desmoid FibromatosisALIAS	Prognostic	B	Supports Poor Outcome	3	accepted	EID2976 Desmoid fibromatosis is a rare, nonmetastatic neoplasm marked by local invasiveness and relentless recurrence. Beta-Catenin deregulation has been commonly identified in sporadic desmoids. CTNNB1 mutat… (full text at CIViC) PMID 18832571 · Lazar et al., 2008 · Open in CIViC	civic
(diagnostic)	Wilms TumorCURATED_BROADER	Diagnostic	B	Supports N/A	3	rejected	EID6083 Variant found in tumors samples in two patients with pediatric Wilms’ tumor. PMID 19024596 · Su et al., 2008 · Open in CIViC	civic
〃	Wilms TumorCURATED_BROADER	Diagnostic	C	Supports N/A	2	rejected	EID6082 One patient with a novel WT1 pS50X germ line mutation who developed bilateral Wilms tumors. One of the 4 independent tumor sites showed LOH of the wild type WT1 allele, and S45F in the CTNNB1 gene. PMID 17551084 · Uschkereit et al., 2007 · Open in CIViC	civic
Imatinib	Desmoid FibromatosisALIAS	Predictive	B	Supports Sensitivity Response	2	submitted	EID11018 Retrospective analysis of a phase 2 trial of imatinib in desmoid tumors. Among 33 evaluable patients,CTNBB1 T41A mutations were identified in 30,3%, S45 mutations were identified in 48.5 %, whereas C… (full text at CIViC) PMID 26861905 · Kasper et al., 2016 · Open in CIViC	civic
Meloxicam	Desmoid FibromatosisALIAS	Predictive	C	Does Not Support Sensitivity Response	2	accepted	EID6049 Of the 33 patients with desmoid fibromatosis treated with meloxicam, a COX-2 selective inhibitor, one showed complete remission (CR), 7 partial remission (PR), 12 stable disease (SD), and 13 progressi… (full text at CIViC) PMID 24788118 · Hamada et al., 2014 · Open in CIViC	civic