Gene: CTNNB1
Alternate names for this Gene: CTNNB|EVR7|MRD19|NEDSDV|armadillo
Gene Summary: The protein encoded by this gene is part of a complex of proteins that constitute adherens junctions (AJs). AJs are necessary for the creation and maintenance of epithelial cell layers by regulating cell growth and adhesion between cells. The encoded protein also anchors the actin cytoskeleton and may be responsible for transmitting the contact inhibition signal that causes cells to stop dividing once the epithelial sheet is complete. Finally, this protein binds to the product of the APC gene, which is mutated in adenomatous polyposis of the colon. Mutations in this gene are a cause of colorectal cancer (CRC), pilomatrixoma (PTR), medulloblastoma (MDB), and ovarian cancer. Alternative splicing results in multiple transcript variants.
Gene is located in Chromosome: 3
Location in Chromosome : 3p22.1
Description of this Gene: catenin beta 1
Type of Gene: protein-coding
rs1057519886 in
CTNNB1 gene and
Adenocarcinoma of lung (disorder)
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
rs1057519886 in
CTNNB1 gene and
Adenocarcinoma of pancreas
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs1057519886 in
CTNNB1 gene and
Adenocarcinoma of prostate
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs121913399 in
CTNNB1 gene and
Adrenocortical carcinoma
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs1722845 in
CTNNB1 gene and
Body Height
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs121913400 in
CTNNB1 gene and
Brain Neoplasms
PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
rs1553630279 in
CTNNB1 gene and
CATARACT 32, MULTIPLE TYPES
PMID 27915094 2017 Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.
PMID 24668549 2014 A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.
PMID 2614104 1989 [Intraoperative echocardiographic assessment of left ventricular muscle volume changes after intracardiac operation under cardiopulmonary bypass].
rs1553630279 in
CTNNB1 gene and
Cerebral Palsy
PMID 27915094 2017 Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.
PMID 24668549 2014 A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.
PMID 2614104 1989 [Intraoperative echocardiographic assessment of left ventricular muscle volume changes after intracardiac operation under cardiopulmonary bypass].
rs121913400 in
CTNNB1 gene and
Colorectal Carcinoma
PMID 25006736 2014 Multitarget stool DNA testing for colorectal-cancer screening.
PMID 23012255 2012 ESMO Consensus Guidelines for management of patients with colon and rectal cancer. a personalized approach to clinical decision making.
PMID 24996433 2014 RAS testing of colorectal carcinoma—a guidance document from the Association of Clinical Pathologists Molecular Pathology and Diagnostics Group.
PMID 22855150 2012 Guidelines for biomarker testing in colorectal carcinoma (CRC): a national consensus of the Spanish Society of Pathology (SEAP) and the Spanish Society of Medical Oncology (SEOM).
PMID 23852704 2014 Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers: European group on tumor markers 2014 guidelines update.
PMID 17060676 2006 ASCO 2006 update of recommendations for the use of tumor markers in gastrointestinal cancer.
PMID 25373533 2015 Updated guidelines for biomarker testing in colorectal carcinoma: a national consensus of the Spanish Society of Pathology and the Spanish Society of Medical Oncology.
PMID 23429431 2013 Recommendations from the EGAPP Working Group: can testing of tumor tissue for mutations in EGFR pathway downstream effector genes in patients with metastatic colorectal cancer improve health outcomes by guiding decisions regarding anti-EGFR therapy?
PMID 19042984 2008 National Academy of Clinical Biochemistry laboratory medicine practice guidelines for use of tumor markers in testicular, prostate, colorectal, breast, and ovarian cancers.
PMID 22138009 2011 NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology.
rs1057519886 in
CTNNB1 gene and
Colorectal Neoplasms
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs121913399 in
CTNNB1 gene and
Craniopharyngioma
PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
rs1057519886 in
CTNNB1 gene and
Cutaneous Melanoma
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs1553630279 in
CTNNB1 gene and
Dysarthria
PMID 2614104 1989 [Intraoperative echocardiographic assessment of left ventricular muscle volume changes after intracardiac operation under cardiopulmonary bypass].
PMID 24668549 2014 A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.
PMID 27915094 2017 Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.
rs1553630472 in
CTNNB1 gene and
Dysmorphic features
PMID 18334222 2008 Crystal structure of a full-length beta-catenin.
PMID 15866164 2005 Wnt/beta-catenin signaling in mesenchymal progenitors controls osteoblast and chondrocyte differentiation during vertebrate skeletogenesis.
PMID 24668549 2014 A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.
PMID 21903672 2011 Maintaining embryonic stem cell pluripotency with Wnt signaling.
PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
PMID 15866163 2005 Canonical Wnt/beta-catenin signaling prevents osteoblasts from differentiating into chondrocytes.
PMID 22682243 2012 Wnt/β-catenin signaling and disease.
PMID 22110128 2012 Specific armadillo repeat sequences facilitate β-catenin nuclear transport in live cells via direct binding to nucleoporins Nup62, Nup153, and RanBP2/Nup358.
PMID 24614104 2014 Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features.
PMID 23499309 2013 Mutations in WNT1 cause different forms of bone fragility.
PMID 1999432 1991 Purification of a 92-kDa cytoplasmic protein tightly associated with the cell-cell adhesion molecule E-cadherin (uvomorulin). Characterization and extractability of the protein complex from the cell cytostructure.
PMID 24431282 2014 Chondrocyte β-catenin signaling regulates postnatal bone remodeling through modulation of osteoclast formation in a murine model.
PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.
PMID 15713948 2005 Wnt/beta-catenin pathway.
PMID 27915094 2017 Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.
PMID 8227220 1993 The product of the Drosophila segment polarity gene armadillo is part of a multi-protein complex resembling the vertebrate adherens junction.
PMID 8582267 1995 Lack of beta-catenin affects mouse development at gastrulation.
PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.
PMID 11719191 2001 LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.
PMID 25326669 2015 De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.
PMID 28575650 2017 Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR.
PMID 9060476 1997 Establishment of the dorso-ventral axis in Xenopus embryos is presaged by early asymmetries in beta-catenin that are modulated by the Wnt signaling pathway.
rs121913396 in
CTNNB1 gene and
Endometrial Neoplasms
PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
rs1057519886 in
CTNNB1 gene and
Esophageal carcinoma
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs1057519886 in
CTNNB1 gene and
Gastric Adenocarcinoma
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs1553630279 in
CTNNB1 gene and
Little's Disease
PMID 24668549 2014 A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.
PMID 2614104 1989 [Intraoperative echocardiographic assessment of left ventricular muscle volume changes after intracardiac operation under cardiopulmonary bypass].
PMID 27915094 2017 Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.
rs1057519886 in
CTNNB1 gene and
Liver carcinoma
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
rs1553630279 in
CTNNB1 gene and
Lower limb hypertonia
PMID 27915094 2017 Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.
PMID 2614104 1989 [Intraoperative echocardiographic assessment of left ventricular muscle volume changes after intracardiac operation under cardiopulmonary bypass].
PMID 24668549 2014 A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.
rs1553630279 in
CTNNB1 gene and
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
PMID 2614104 1989 [Intraoperative echocardiographic assessment of left ventricular muscle volume changes after intracardiac operation under cardiopulmonary bypass].
PMID 24668549 2014 A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.
PMID 27915094 2017 Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.
rs1057519886 in
CTNNB1 gene and
Malignant Uterine Corpus Neoplasm
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs121913403 in
CTNNB1 gene and
Malignant neoplasm of ovary
PMID 23188549 2013 NSGC practice guideline: risk assessment and genetic counseling for hereditary breast and ovarian cancer.
PMID 22964825 2012 Screening for ovarian cancer: U.S. Preventive Services Task Force reaffirmation recommendation statement.
PMID 19042984 2008 National Academy of Clinical Biochemistry laboratory medicine practice guidelines for use of tumor markers in testicular, prostate, colorectal, breast, and ovarian cancers.
rs1057519886 in
CTNNB1 gene and
Medulloblastoma
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
PMID 12027456 2002 Identification of two novel regulated serines in the N terminus of beta-catenin.
PMID 10666372 2000 APC mutations in sporadic medulloblastomas.
PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
rs1064796453 in
CTNNB1 gene and
Movement Disorders
PMID 24431282 2014 Chondrocyte β-catenin signaling regulates postnatal bone remodeling through modulation of osteoclast formation in a murine model.
PMID 24614104 2014 Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features.
PMID 22110128 2012 Specific armadillo repeat sequences facilitate β-catenin nuclear transport in live cells via direct binding to nucleoporins Nup62, Nup153, and RanBP2/Nup358.
PMID 23499309 2013 Mutations in WNT1 cause different forms of bone fragility.
PMID 22682243 2012 Wnt/β-catenin signaling and disease.
PMID 27915094 2017 Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.
PMID 15713948 2005 Wnt/beta-catenin pathway.
PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.
PMID 24668549 2014 A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.
PMID 15866163 2005 Canonical Wnt/beta-catenin signaling prevents osteoblasts from differentiating into chondrocytes.
PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
PMID 1999432 1991 Purification of a 92-kDa cytoplasmic protein tightly associated with the cell-cell adhesion molecule E-cadherin (uvomorulin). Characterization and extractability of the protein complex from the cell cytostructure.
PMID 18334222 2008 Crystal structure of a full-length beta-catenin.
PMID 9060476 1997 Establishment of the dorso-ventral axis in Xenopus embryos is presaged by early asymmetries in beta-catenin that are modulated by the Wnt signaling pathway.
PMID 28575650 2017 Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR.
PMID 8227220 1993 The product of the Drosophila segment polarity gene armadillo is part of a multi-protein complex resembling the vertebrate adherens junction.
PMID 11719191 2001 LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.
PMID 15866164 2005 Wnt/beta-catenin signaling in mesenchymal progenitors controls osteoblast and chondrocyte differentiation during vertebrate skeletogenesis.
PMID 25326669 2015 De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.
PMID 21903672 2011 Maintaining embryonic stem cell pluripotency with Wnt signaling.
PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.
PMID 8582267 1995 Lack of beta-catenin affects mouse development at gastrulation.
rs1553631770 in
CTNNB1 gene and
Multiple congenital anomalies
PMID 21903672 2011 Maintaining embryonic stem cell pluripotency with Wnt signaling.
PMID 22110128 2012 Specific armadillo repeat sequences facilitate β-catenin nuclear transport in live cells via direct binding to nucleoporins Nup62, Nup153, and RanBP2/Nup358.
PMID 24431282 2014 Chondrocyte β-catenin signaling regulates postnatal bone remodeling through modulation of osteoclast formation in a murine model.
PMID 23499309 2013 Mutations in WNT1 cause different forms of bone fragility.
PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
PMID 9060476 1997 Establishment of the dorso-ventral axis in Xenopus embryos is presaged by early asymmetries in beta-catenin that are modulated by the Wnt signaling pathway.
PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.
PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.
PMID 18334222 2008 Crystal structure of a full-length beta-catenin.
PMID 8582267 1995 Lack of beta-catenin affects mouse development at gastrulation.
PMID 24668549 2014 A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.
PMID 8227220 1993 The product of the Drosophila segment polarity gene armadillo is part of a multi-protein complex resembling the vertebrate adherens junction.
PMID 25326669 2015 De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.
PMID 1999432 1991 Purification of a 92-kDa cytoplasmic protein tightly associated with the cell-cell adhesion molecule E-cadherin (uvomorulin). Characterization and extractability of the protein complex from the cell cytostructure.
PMID 28575650 2017 Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR.
PMID 27915094 2017 Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.
PMID 15866164 2005 Wnt/beta-catenin signaling in mesenchymal progenitors controls osteoblast and chondrocyte differentiation during vertebrate skeletogenesis.
PMID 22682243 2012 Wnt/β-catenin signaling and disease.
PMID 24614104 2014 Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features.
PMID 11719191 2001 LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.
PMID 15866163 2005 Canonical Wnt/beta-catenin signaling prevents osteoblasts from differentiating into chondrocytes.
PMID 15713948 2005 Wnt/beta-catenin pathway.
rs1064796453 in
CTNNB1 gene and
Muscle hypotonia
PMID 23499309 2013 Mutations in WNT1 cause different forms of bone fragility.
PMID 8582267 1995 Lack of beta-catenin affects mouse development at gastrulation.
PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.
PMID 8227220 1993 The product of the Drosophila segment polarity gene armadillo is part of a multi-protein complex resembling the vertebrate adherens junction.
PMID 24668549 2014 A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.
PMID 28575650 2017 Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR.
PMID 24431282 2014 Chondrocyte β-catenin signaling regulates postnatal bone remodeling through modulation of osteoclast formation in a murine model.
PMID 27915094 2017 Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.
PMID 24614104 2014 Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features.
PMID 9060476 1997 Establishment of the dorso-ventral axis in Xenopus embryos is presaged by early asymmetries in beta-catenin that are modulated by the Wnt signaling pathway.
PMID 25326669 2015 De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.
PMID 15713948 2005 Wnt/beta-catenin pathway.
PMID 18334222 2008 Crystal structure of a full-length beta-catenin.
PMID 21903672 2011 Maintaining embryonic stem cell pluripotency with Wnt signaling.
PMID 11719191 2001 LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.
PMID 22682243 2012 Wnt/β-catenin signaling and disease.
PMID 22110128 2012 Specific armadillo repeat sequences facilitate β-catenin nuclear transport in live cells via direct binding to nucleoporins Nup62, Nup153, and RanBP2/Nup358.
PMID 15866164 2005 Wnt/beta-catenin signaling in mesenchymal progenitors controls osteoblast and chondrocyte differentiation during vertebrate skeletogenesis.
PMID 1999432 1991 Purification of a 92-kDa cytoplasmic protein tightly associated with the cell-cell adhesion molecule E-cadherin (uvomorulin). Characterization and extractability of the protein complex from the cell cytostructure.
PMID 15866163 2005 Canonical Wnt/beta-catenin signaling prevents osteoblasts from differentiating into chondrocytes.
PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.
rs1057519836 in
CTNNB1 gene and
Neoplasms
PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
rs1553631770 in
CTNNB1 gene and
Overgrowth
PMID 27915094 2017 Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.
PMID 8582267 1995 Lack of beta-catenin affects mouse development at gastrulation.
PMID 28575650 2017 Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR.
PMID 24668549 2014 A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.
PMID 8227220 1993 The product of the Drosophila segment polarity gene armadillo is part of a multi-protein complex resembling the vertebrate adherens junction.
PMID 22682243 2012 Wnt/β-catenin signaling and disease.
PMID 24431282 2014 Chondrocyte β-catenin signaling regulates postnatal bone remodeling through modulation of osteoclast formation in a murine model.
PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.
PMID 24614104 2014 Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features.
PMID 9060476 1997 Establishment of the dorso-ventral axis in Xenopus embryos is presaged by early asymmetries in beta-catenin that are modulated by the Wnt signaling pathway.
PMID 15713948 2005 Wnt/beta-catenin pathway.
PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.
PMID 21903672 2011 Maintaining embryonic stem cell pluripotency with Wnt signaling.
PMID 18334222 2008 Crystal structure of a full-length beta-catenin.
PMID 25326669 2015 De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.
PMID 1999432 1991 Purification of a 92-kDa cytoplasmic protein tightly associated with the cell-cell adhesion molecule E-cadherin (uvomorulin). Characterization and extractability of the protein complex from the cell cytostructure.
PMID 23499309 2013 Mutations in WNT1 cause different forms of bone fragility.
PMID 22110128 2012 Specific armadillo repeat sequences facilitate β-catenin nuclear transport in live cells via direct binding to nucleoporins Nup62, Nup153, and RanBP2/Nup358.
PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
PMID 15866164 2005 Wnt/beta-catenin signaling in mesenchymal progenitors controls osteoblast and chondrocyte differentiation during vertebrate skeletogenesis.
PMID 11719191 2001 LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.
PMID 15866163 2005 Canonical Wnt/beta-catenin signaling prevents osteoblasts from differentiating into chondrocytes.
rs121913228 in
CTNNB1 gene and
Parathyroid Neoplasms
PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
rs121913396 in
CTNNB1 gene and
Pilomatrixoma
PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
PMID 11703283 2001 beta-catenin expression in pilomatrixomas. Relationship with beta-catenin gene mutations and comparison with beta-catenin expression in normal hair follicles.
PMID 12027456 2002 Identification of two novel regulated serines in the N terminus of beta-catenin.
PMID 10192393 1999 A common human skin tumour is caused by activating mutations in beta-catenin.
rs1553630279 in
CTNNB1 gene and
Severe intellectual disability
PMID 2614104 1989 [Intraoperative echocardiographic assessment of left ventricular muscle volume changes after intracardiac operation under cardiopulmonary bypass].
PMID 27915094 2017 Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.
PMID 24668549 2014 A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.
rs28931588 in
CTNNB1 gene and
Squamous cell carcinoma of esophagus
PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
rs121913399 in
CTNNB1 gene and
Squamous cell carcinoma of the head and neck
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs1057519836 in
CTNNB1 gene and
Stomach Neoplasms
PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
rs1057519886 in
CTNNB1 gene and
Transitional cell carcinoma of bladder
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs121913228 in
CTNNB1 gene and
Uterine Cervical Neoplasm
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs1057519837 in
CTNNB1 gene and
melanoma
PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
PMID 15133491 2004 Genetic and epigenetic alterations of the APC gene in malignant melanoma.
PMID 11930117 2002 Mutations in exon 3 of the beta-catenin gene are rare in melanoma cell lines.
PMID 11351304 2001 Cytoplasmic and nuclear accumulation of beta-catenin is rarely caused by CTNNB1 exon 3 mutations in cutaneous malignant melanoma.
PMID 10027390 1999 Frequent nuclear/cytoplasmic localization of beta-catenin without exon 3 mutations in malignant melanoma.
PMID 11950921 2002 Loss of membranous expression of beta-catenin is associated with tumor progression in cutaneous melanoma and rarely caused by exon 3 mutations.
PMID 9065403 1997 Stabilization of beta-catenin by genetic defects in melanoma cell lines.
PMID 12124804 2002 Molecular genetic analysis of malignant melanomas for aberrations of the WNT signaling pathway genes CTNNB1, APC, ICAT and BTRC.
PMID 19234609 2009 Integrative analysis of epigenetic modulation in melanoma cell response to decitabine: clinical implications.
rs121913400 in
CTNNB1 gene and
ovarian neoplasm
PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.