Annotation Detail

Information
Associated Genes
KRAS
Associated Variants
KRAS p.Gly12Ala (p.G12A) ( ENST00000256078.10, ENST00000311936.8, ENST00000556131.2, ENST00000557334.6, ENST00000685328.1, ENST00000686969.1, ENST00000688940.1, ENST00000692768.1, ENST00000693229.1 )
KRAS p.Gly12Ala (p.G12A) ( ENST00000256078.10, ENST00000311936.8, ENST00000556131.2, ENST00000557334.6, ENST00000685328.1, ENST00000692768.1, ENST00000693229.1, ENST00000686969.1, ENST00000688940.1 )
Associated Disease
colorectal cancer
Source Database
CIViC Evidence
Description
In this study, a large cohort of metastatic colorectal cancer patients were treated with anti-epidermal growth factor receptor monoclonal antibodies (cetuximab or panitumumab). KRAS, PIK3CA, and PTEN were tested for mutation; KRAS G12A was the only variant noted in the both the primary and metastatic colon tumors of one patient (Patient 29; Supplemental table 1) , and the primary colon tumor of another patient (104; Table S1), who both experienced stable disease following treatment. In the larger cohort, patients with tumors harboring any KRAS mutation had significantly decreased incidence of objective response than patients with wtKRAS tumors. Authors noted that patients with tumors harboring KRAS mutations tended to have decreased PFS and OS compared to those with wild-type tumors though the differences were not statistically significant.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/6319
Gene URL
https://civic.genome.wustl.edu/links/genes/30
Variant URL
https://civic.genome.wustl.edu/links/variants/148
Rating
2
Evidence Type
Predictive
Disease
Colorectal Cancer
Evidence Direction
Supports
Drug
Cetuximab,Panitumumab
Evidence Level
C
Clinical Significance
Resistance
Pubmed
19223544
Drugs
Drug NameSensitivitySupported
CetuximabResitance or Non-Reponsetrue
PanitumumabResitance or Non-Reponsetrue