Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
-
BRAF p.Asp634Gly (p.D634G)
(
ENST00000288602.11,
ENST00000496384.7,
ENST00000644969.2,
ENST00000646891.2 )
BRAF p.Asp634Gly (p.D634G) ( ENST00000646891.2, ENST00000496384.7, ENST00000644969.2, ENST00000288602.11 ) - Associated Disease
- colorectal cancer
- Source Database
- CIViC Evidence
- Description
- In a study of 908 patients with colorectal cancer, 7 patients had BRAF (D594G) mutations and 45 patients had BRAF (V600E) mutations. Overall clinicopathological implications of BRAF V600E and D594G mutant tumors were similar but BRAF D594G mutations were more likely to be left-sided tumors (85.7% vs. 31.1%; p<0.0098) and they were more likely to present as metastatic tumors (71.4% vs. 28.9%; p<0.04) than BRAF V600E mutant tumors. The overall log-rank was p < 0.001 when all three groups were calculated simultaneously; p < 0.0001 comparing BRAF wild-type and BRAF V600E survival, p = 0.015 comparing BRAF wild-type and BRAF D594G survival, and p = 0.98 comparing BRAF V600E and BRAF D594G. There was no statistically significant difference in OS between BRAF D594G and BRAF wt but BRAF V600E mutant patients had significantly worse survival when only stage IV patients (BRAF D594G N=5) were analyzed.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1551
- Gene URL
- https://civic.genome.wustl.edu/links/genes/5
- Variant URL
- https://civic.genome.wustl.edu/links/variants/611
- Rating
- 1
- Evidence Type
- Prognostic
- Disease
- Colorectal Cancer
- Evidence Direction
- Supports
- Evidence Level
- B
- Clinical Significance
- Poor Outcome
- Pubmed
- 27404270
Drugs