CTNNB1 Exon 3 Mutation

Loading variant…

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Adamantinomatous Craniopharyngioma3
CTNNB1 Exon 3 Mutation	(diagnostic)	Diagnostic	B	Supports Positive	4	submitted	EID12111 Assessment of beta-catenin mutations in a large collections of pituitary adenomas (n=60) and craniopharynangiomas (n=41), identified CTNNB1 exon 3 mutations in 77% of craniopharynangiomas, all of the … (full text at CIViC) PMID 15891929 · Buslei et al., 2005 · Open in CIViC	civic
CTNNB1 Exon 3 Mutation	(diagnostic)	Diagnostic	B	Supports Positive	4	submitted	EID12112 Whole-exome sequencing identified CTNNB1 mutations in 11 of 12 (92%) of adamantinomatous craniopharyngiomas examined. No other recurrent mutations or genomic aberrations were identified. Targeted se… (full text at CIViC) PMID 24413733 · Brastianos et al., 2014 · Open in CIViC	civic

Molecular profile

Therapy

Type

Level

Direction · significance

Rating (1–5)

Status

Evidence

Source

Adamantinomatous Craniopharyngioma3

CTNNB1 Exon 3 Mutation

(diagnostic)

Diagnostic

Supports Positive

submitted

EID12111

Assessment of beta-catenin mutations in a large collections of pituitary adenomas (n=60) and craniopharynangiomas (n=41), identified CTNNB1 exon 3 mutations in 77% of craniopharynangiomas, all of the … (full text at CIViC)

PMID 15891929 · Buslei et al., 2005 · Open in CIViC

civic

CTNNB1 Exon 3 Mutation

(diagnostic)

Diagnostic

Supports Positive

submitted

EID12112

Whole-exome sequencing identified CTNNB1 mutations in 11 of 12 (92%) of adamantinomatous craniopharyngiomas examined. No other recurrent mutations or genomic aberrations were identified. Targeted se… (full text at CIViC)

PMID 24413733 · Brastianos et al., 2014 · Open in CIViC

civic

Childhood Medulloblastoma3
CTNNB1 Exon 3 Mutation	(diagnostic)	Diagnostic	B	Supports Positive	3	accepted	EID7965 A series of 72 pediatric medulloblastomas were evaluated for CTNNB1 mutations (by direct sequencing), copy number alterations (by array-comparative genomic hybridization), and beta-catenin protein exp… (full text at CIViC) PMID 19197950 · Fattet et al., 2009 · Open in CIViC	civic
CTNNB1 Exon 3 Mutation	(diagnostic)	Diagnostic	B	Supports Positive	4	accepted	EID7967 A total of 51 medulloblastomas from two independent cohorts (19 and 32 cases) were assessed for evidence of Wnt/Wg pathway activation, alongside a genome-wide analysis of associated copy-number aberra… (full text at CIViC) PMID 17172831 · Clifford et al., 2006 · Open in CIViC	civic
CTNNB1 Exon 3 Mutation	(prognostic)	Prognostic	B	Supports Better Outcome	4	submitted	EID9013 This retrospective study evaluated 72 pediatric medulloblastoma patients for CTNNB1 mutations (by direct sequencing), copy number alterations (by array-comparative genomic hybridization), and beta-cat… (full text at CIViC) PMID 19197950 · Fattet et al., 2009 · Open in CIViC	civic

Childhood Medulloblastoma3

CTNNB1 Exon 3 Mutation

(diagnostic)

Diagnostic

Supports Positive

accepted

EID7965

A series of 72 pediatric medulloblastomas were evaluated for CTNNB1 mutations (by direct sequencing), copy number alterations (by array-comparative genomic hybridization), and beta-catenin protein exp… (full text at CIViC)

PMID 19197950 · Fattet et al., 2009 · Open in CIViC

civic

CTNNB1 Exon 3 Mutation

(diagnostic)

Diagnostic

Supports Positive

accepted

EID7967

A total of 51 medulloblastomas from two independent cohorts (19 and 32 cases) were assessed for evidence of Wnt/Wg pathway activation, alongside a genome-wide analysis of associated copy-number aberra… (full text at CIViC)

PMID 17172831 · Clifford et al., 2006 · Open in CIViC

civic

CTNNB1 Exon 3 Mutation

(prognostic)

Prognostic

Supports Better Outcome

submitted

EID9013

This retrospective study evaluated 72 pediatric medulloblastoma patients for CTNNB1 mutations (by direct sequencing), copy number alterations (by array-comparative genomic hybridization), and beta-cat… (full text at CIViC)

PMID 19197950 · Fattet et al., 2009 · Open in CIViC

civic

Desmoid Fibromatosis3
CTNNB1 Exon 3 Mutation	(prognostic)	Prognostic	B	Does Not Support Poor Outcome	4	accepted	EID7784 This study illustrates the prevalence of CTNNB1 mutations in sporadic desmoid tumors, and examines whether the presence of CTNNB1 mutations correlates with the disease outcome. CTNNB1 mutations (inclu… (full text at CIViC) PMID 23960186 · Mullen et al., 2013 · Open in CIViC	civic
CTNNB1 Exon 3 Mutation	(diagnostic)	Diagnostic	B	Supports Positive	4	submitted	EID12114 An analysis of 260 typical desmoid tumors and 191 cases of spindle cell lesions (which can be difficult to distinguish morphologically from desmoid tumors) identified CTNNB1 mutations in 88% of desmoi… (full text at CIViC) PMID 22766794 · Le Guellec et al., 2012 · Open in CIViC	civic
CTNNB1 Exon 3 Mutation	(diagnostic)	Diagnostic	B	Supports Positive	4	submitted	EID12115 Exon 3 sequencing of CTNNB1 in 101 extra-abdominal desmoid fibromatosis revealed mutation rates of 87% including T41A (39.5%), S45P (9%), S45F (36.5%), and deletion (2%). PMID 20197769 · Dômont et al., 2010 · Open in CIViC	civic

Desmoid Fibromatosis3

CTNNB1 Exon 3 Mutation

(prognostic)

Prognostic

Does Not Support Poor Outcome

accepted

EID7784

This study illustrates the prevalence of CTNNB1 mutations in sporadic desmoid tumors, and examines whether the presence of CTNNB1 mutations correlates with the disease outcome. CTNNB1 mutations (inclu… (full text at CIViC)

PMID 23960186 · Mullen et al., 2013 · Open in CIViC

civic

CTNNB1 Exon 3 Mutation

(diagnostic)

Diagnostic

Supports Positive

submitted

EID12114

An analysis of 260 typical desmoid tumors and 191 cases of spindle cell lesions (which can be difficult to distinguish morphologically from desmoid tumors) identified CTNNB1 mutations in 88% of desmoi… (full text at CIViC)

PMID 22766794 · Le Guellec et al., 2012 · Open in CIViC

civic

CTNNB1 Exon 3 Mutation

(diagnostic)

Diagnostic

Supports Positive

submitted

EID12115

Exon 3 sequencing of CTNNB1 in 101 extra-abdominal desmoid fibromatosis revealed mutation rates of 87% including T41A (39.5%), S45P (9%), S45F (36.5%), and deletion (2%).

PMID 20197769 · Dômont et al., 2010 · Open in CIViC

civic

Hepatoblastoma2
CTNNB1 Exon 3 Mutation	(diagnostic)	Diagnostic	B	Supports Positive	3	submitted	EID7922 The authors analyzed 52 hepatoblastoma (HB) biopsies and three HB cell lines from sporadic HBs and found 48% of them bearing mutations on beta-catenin exon 3, which encodes the degradation targeting… (full text at CIViC) PMID 9927029 · Koch et al., 1999 · Open in CIViC	civic
CTNNB1 Exon 3 Mutation	(diagnostic)	Diagnostic	B	Supports Positive	2	submitted	EID9663 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

Hepatoblastoma2

CTNNB1 Exon 3 Mutation

(diagnostic)

Diagnostic

Supports Positive

submitted

EID7922

The authors analyzed 52 hepatoblastoma (HB) biopsies and three HB cell lines from sporadic HBs and found 48% of them bearing mutations on beta-catenin exon 3, which encodes the degradation targeting… (full text at CIViC)

PMID 9927029 · Koch et al., 1999 · Open in CIViC

civic

CTNNB1 Exon 3 Mutation

(diagnostic)

Diagnostic

Supports Positive

submitted

EID9663

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

Medulloblastoma1
CTNNB1 Exon 3 Mutation	(prognostic)	Prognostic	B	Supports Better Outcome	4	submitted	EID7966 In a study of 109 pediatric medulloblastomas, children with medulloblastomas that showed a nucleopositive beta-catenin immunophenotype (27 of 109; 25%) had significantly better overall (OS) and event-… (full text at CIViC) PMID 16258095 · Ellison et al., 2005 · Open in CIViC	civic

Medulloblastoma1

CTNNB1 Exon 3 Mutation

(prognostic)

Prognostic

Supports Better Outcome

submitted

EID7966

In a study of 109 pediatric medulloblastomas, children with medulloblastomas that showed a nucleopositive beta-catenin immunophenotype (27 of 109; 25%) had significantly better overall (OS) and event-… (full text at CIViC)

PMID 16258095 · Ellison et al., 2005 · Open in CIViC

civic

Pancreatic Solid Pseudopapillary Carcinoma3unmapped disease
CTNNB1 Exon 3 Mutation	(diagnostic)	Diagnostic	B	Supports Positive	4	submitted	EID12108 In an analysis of 20 solid-pseudopapillary tumors, 95% (19 of 20) had nuclear accumulation of beta-catenin protein and 90% (18 of 20) had activating CTNNB1 mutations, including D32N (n=2), D32Y (n=3),… (full text at CIViC) PMID 11943721 · Abraham et al., 2002 · Open in CIViC	civic
CTNNB1 Exon 3 Mutation	(diagnostic)	Diagnostic	B	Supports Positive	4	submitted	EID12109 By IHC, all 18 solid-pseudopapillary neoplasm (SPN) samples had diffuse nuclear/cytoplasmic beta-catenin staining and 15 of 18 (83%) had missense mutations in exon 3 including at codons 32 (n=5), 33 (… (full text at CIViC) PMID 11731417 · Tanaka et al., 2001 · Open in CIViC	civic
CTNNB1 Exon 3 Mutation	(diagnostic)	Diagnostic	B	Supports Positive	3	submitted	EID12110 22158988 Exonic sequencing of 4 types of pancreatic cysts, including serous cystadenomas (SCAs), intraductal papillary mucinous neoplasms (IPMNs), mucinous cystic neoplasms (MCNs), and solid pseudopap… (full text at CIViC) PMID 22158988 · Wu et al., 2011 · Open in CIViC	civic

Pancreatic Solid Pseudopapillary Carcinoma3unmapped disease

CTNNB1 Exon 3 Mutation

(diagnostic)

Diagnostic

Supports Positive

submitted

EID12108

In an analysis of 20 solid-pseudopapillary tumors, 95% (19 of 20) had nuclear accumulation of beta-catenin protein and 90% (18 of 20) had activating CTNNB1 mutations, including D32N (n=2), D32Y (n=3),… (full text at CIViC)

PMID 11943721 · Abraham et al., 2002 · Open in CIViC

civic

CTNNB1 Exon 3 Mutation

(diagnostic)

Diagnostic

Supports Positive

submitted

EID12109

By IHC, all 18 solid-pseudopapillary neoplasm (SPN) samples had diffuse nuclear/cytoplasmic beta-catenin staining and 15 of 18 (83%) had missense mutations in exon 3 including at codons 32 (n=5), 33 (… (full text at CIViC)

PMID 11731417 · Tanaka et al., 2001 · Open in CIViC

civic

CTNNB1 Exon 3 Mutation

(diagnostic)

Diagnostic

Supports Positive

submitted

EID12110

22158988 Exonic sequencing of 4 types of pancreatic cysts, including serous cystadenomas (SCAs), intraductal papillary mucinous neoplasms (IPMNs), mucinous cystic neoplasms (MCNs), and solid pseudopap… (full text at CIViC)

PMID 22158988 · Wu et al., 2011 · Open in CIViC

civic

Evidence by cancer (15 items)

Clinical significance (0)