Biomarker: CTNNB1

Biomarker subtype: gene

Clinical application: diagnosis

Histology type: endometrioid endometrial carcinoma

Stage: low grade

Country: Spain

Region: Madrid

Study type: single-centre retrospective cohort study

Followed up time : 80.5 months

Cohort age: 64.04±10.38

Protocol age: 64.19±10.06

Control age: 62.47±13.54

Sample type : tissue

Clinical method: Immunohistochemical staining/Sanger sequencing/ PCR

Expression pattern : CTNNB1 exon 3 mutation

Statictics: Mean (SD)

Cohort age: 64.04±10.38

Protocol age: 64.19±10.06

Control age: 62.47±13.54

Description: CTNNB1 exon 3 mutation has a negative impact on disease-free survival in low-grade, early-stage EECs.

Approved symbol: CTNNB1

Approved name: catenin beta 1

Locus type: gene with protein product

HGNC ID: HGNC:2514

HGNC link: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2514

Symbol status: Approved

Previous symbols: CTNNB1

Alias symbols: beta-catenin armadillo

Alternative gene group name: ARM repeat containing

Subgroup: Armadillo like helical domain containing (ARMH)$ Catenins

OMIM: 116806

Omim link: https://www.omim.org/entry/116806

NCBI name: 1499

NCBI link: https://www.ncbi.nlm.nih.gov/gene/1499

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. [provided by RefSeq, Aug 2016]

Expression: Ubiquitous expression in placenta (RPKM 94.7), thyroid (RPKM 78.7) and 25 other tissues

NCBI gene expression https://www.ncbi.nlm.nih.gov/gene/1499#gene-expression

BP term ID: GO:0007403 | GO:0061324

BP term name: glial cell fate determination | canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation

CC term ID: GO:0034750 |GO:1990711 |GO:0070369 | GO:0071664

CC term name: Scrib-APC-beta-catenin complex | beta-catenin-ICAT complex | beta-catenin-ICAT complex |catenin-TCF7L2 complex