Annotation Detail
Information
- Associated Genes
- SMAD4
- Associated Variants
-
SMAD4 LOSS
(
ENST00000342988.8 )
SMAD4 LOSS ( ENST00000342988.8 ) - Associated Disease
- pancreatic cancer
- Source Database
- CIViC Evidence
- Description
- Study employed a rapid autopsy technique on a cohort of 76 patients with pancreatic cancer and explored the status of several genes. 63% (41/65) of carcinomas analyzed showed inactivation of SMAD4 (DPC4) via immunolabeling. Among the patterns of failure "metastatic and locally destructive", It was discovered that DPC4 loss was significantly associated with metastatic disease (p=.007).
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1412
- Gene URL
- https://civic.genome.wustl.edu/links/genes/77
- Variant URL
- https://civic.genome.wustl.edu/links/variants/564
- Rating
- 3
- Evidence Type
- Prognostic
- Disease
- Pancreatic Cancer
- Evidence Direction
- Supports
- Evidence Level
- B
- Clinical Significance
- Poor Outcome
- Pubmed
- 19273710
Drugs