Annotation Detail
Information
- Associated Genes
- CTNNB1
- Associated Variants
-
CTNNB1 p.Thr41Ala (p.T41A)
(
ENST00000396185.8,
ENST00000349496.11,
ENST00000396183.7,
ENST00000405570.6,
ENST00000441708.2,
ENST00000431914.6,
ENST00000453024.6,
ENST00000450969.6,
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.Thr41Ala (p.T41A) ( 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
- Desmoid fibromatosis is a rare, nonmetastatic neoplasm marked by local invasiveness and relentless recurrence. Beta-Catenin deregulation has been commonly identified in sporadic desmoids. CTNNB1 mutations were observed in 117 of 138 (85%) of desmoids. Three discrete mutations in two codons of CTNNB1 exon 3 were identified: T41A (59%), S45F (33%), and S45P (8%). Five-year recurrence-free survival was significantly poorer in S45F-mutated desmoids (23%, P < 0.0001) versus either T41A (57%) or nonmutated tumors (65%). In conclusion, CTNNB1 mutations are highly common in desmoid tumors. Furthermore, patients harboring CTNNB1 (45F) mutations are at particular risk for recurrence and therefore may especially benefit from adjuvant therapeutic approaches.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/2973
- Gene URL
- https://civic.genome.wustl.edu/links/genes/1290
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1285
- Rating
- 4
- Evidence Type
- Diagnostic
- Disease
- Desmoid Fibromatosis
- Evidence Direction
- Supports
- Evidence Level
- B
- Clinical Significance
- Positive
- Pubmed
- 18832571
Drugs