Annotation Detail

Information
Associated Genes
CTNNB1
Associated Variants
CTNNB1 p.Ser45Phe (p.S45F) ( ENST00000349496.11, ENST00000441708.2, ENST00000405570.6, ENST00000431914.6, ENST00000450969.6, ENST00000453024.6, ENST00000396183.7, ENST00000396185.8, ENST00000433400.6, ENST00000642248.1, ENST00000642315.1, ENST00000642426.1, ENST00000642836.1, ENST00000642886.1, ENST00000642986.1, ENST00000642992.1, ENST00000643031.1, ENST00000643297.1, ENST00000643541.1, ENST00000643977.1, ENST00000643992.1, ENST00000644138.1, ENST00000644524.1, ENST00000644678.1, ENST00000644867.1, ENST00000644873.1, ENST00000644906.2, ENST00000645210.1, ENST00000645276.1, ENST00000645320.1, ENST00000645493.1, ENST00000645900.1, ENST00000645982.1, ENST00000646116.1, ENST00000646174.1, ENST00000646369.1, ENST00000646381.1, ENST00000646725.1, ENST00000647264.1, ENST00000647390.1, ENST00000647413.2, ENST00000715148.1, ENST00000715149.1, ENST00000715151.1 )
CTNNB1 p.Ser45Phe (p.S45F) ( ENST00000349496.11, ENST00000396183.7, ENST00000396185.8, ENST00000405570.6, ENST00000431914.6, ENST00000433400.6, ENST00000441708.2, ENST00000450969.6, ENST00000453024.6, ENST00000642248.1, ENST00000642315.1, ENST00000642426.1, ENST00000642836.1, ENST00000642886.1, ENST00000642986.1, ENST00000642992.1, ENST00000643031.1, ENST00000643297.1, ENST00000643541.1, ENST00000643977.1, ENST00000643992.1, ENST00000644138.1, ENST00000644524.1, ENST00000644678.1, ENST00000644867.1, ENST00000644873.1, ENST00000644906.2, ENST00000645210.1, ENST00000645276.1, ENST00000645320.1, ENST00000645493.1, ENST00000645900.1, ENST00000645982.1, ENST00000646116.1, ENST00000646174.1, ENST00000646369.1, ENST00000646381.1, ENST00000646725.1, ENST00000647264.1, ENST00000647390.1, ENST00000647413.2, ENST00000715148.1, ENST00000715149.1, ENST00000715151.1 )
Associated Disease
Desmoid Fibromatosis
Source Database
CIViC Evidence
Description
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 progressive disease (PD). The following 3 point mutations were identified in 21 of the 33 cases (64%): T41A (16 cases), S45F (4 cases) and S45P (one case). All four cases with S45F mutation exhibited strong nuclear expression of β-catenin. S45F mutation was significantly associated with a poor response (all cases; PD) (p = 0.017)
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/6049
Gene URL
https://civic.genome.wustl.edu/links/genes/1290
Variant URL
https://civic.genome.wustl.edu/links/variants/1286
Rating
2
Evidence Type
Predictive
Disease
Desmoid Fibromatosis
Evidence Direction
Does Not Support
Drug
Meloxicam
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
24788118
Drugs
Drug NameSensitivitySupported
MeloxicamSensitivityfalse