Annotation Detail

Information
Associated Genes
CCND1
Associated Variants
CCND1 MUTATION
CCND1 MUTATION
Associated Disease
Carcinogenesis
Source Database
DisGeNET
Description
Aberrant nuclear β-catenin expression, detected in all MSTs, appears to be the result of stabilizing CTNNB1 mutations in 57% of cases, providing further evidence that dysregulation of the Wnt/B-catenin pathway is involved in the tumorigenesis of MST and may involve activation of β-catenin with upregulation of cyclin D1.
Pubmed
26200099
Section of the abstract supporting the evidence
ALL_TEXT_3/3
Number of the section of the abstract supporting the evidence
3
Number of the sentence supporting the evidence
9
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0464165601257319
Drugs