Annotation Detail
Information
- Associated Genes
- SMAD4
- Associated Variants
-
SMAD4 LOSS
(
ENST00000342988.8 )
SMAD4 LOSS ( ENST00000342988.8 ) - Associated Disease
- colorectal cancer
- Source Database
- CIViC Evidence
- Description
- A retrospective study with 202 colorectal cancer patients found that SMAD4 deletion was associated with worse outcomes during 5-fluorouracil treatment. The hazard ratio for disease-free survival was 2.89 times greater for patients with SMAD4 deletion as compared to those with normal SMAD4 diploidy (P = .045). For overall survival, the hazard ratio was 3.23 times greater for SMAD4 deletion (P = .056).
- Variant Origin
- N/A
- Variant Origin
- N/A
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1644
- Gene URL
- https://civic.genome.wustl.edu/links/genes/77
- Variant URL
- https://civic.genome.wustl.edu/links/variants/646
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Colorectal Cancer
- Evidence Direction
- Supports
- Drug
- Fluorouracil
- Evidence Level
- B
- Clinical Significance
- Resistance
- Pubmed
- 12237773
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Fluorouracil | Resitance or Non-Reponse | true |