Annotation Detail
Information
- Associated Genes
- HSPH1
- Associated Variants
-
HSPH1 T17 DELETION
(
ENST00000320027.10 )
HSPH1 T17 DELETION ( ENST00000320027.10 ) - Associated Disease
- colorectal cancer
- Source Database
- CIViC Evidence
- Description
- 329 consecutive patients with stage II–III colorectal tumors with MSI after surgical resection at tertiary medical centers were screened for HSP110 T(17) by PCR. Patients underwent adjuvant chemotherapy with 5-fluorouracil and oxaliplatin. Patients with large HSP110 T(17) deletions (≥5 bp; 18 of 77 patients, 23.4%) had longer times of relapse-free survival than patients with small or no deletions (≤4 bp; 59 of 77 patients, 76.6%) in multivariate analysis (hazard ratio, 0.16; 95% confidence interval, 0.012–0.8; P = .03). A significant interaction between chemotherapy and T17 deletion was found (P =.009).
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1164
- Gene URL
- https://civic.genome.wustl.edu/links/genes/8614
- Variant URL
- https://civic.genome.wustl.edu/links/variants/491
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Colorectal Cancer
- Evidence Direction
- Supports
- Drug
- Fluorouracil,Oxaliplatin
- Evidence Level
- B
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 24512910
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Fluorouracil | Sensitivity | true |
| Oxaliplatin | Sensitivity | true |