Annotation Detail

Information
Associated Genes
KDR
Associated Variants
KDR p.Arg961Trp (p.R961W) ( ENST00000263923.5 )
KDR p.Arg961Trp (p.R961W) ( ENST00000263923.5 )
Associated Disease
colorectal adenocarcinoma
Source Database
CIViC Evidence
Description
Case Report of a 84-year-old woman with stage IVb CRC after progression under 5-fluorouracil and bevacizumab. NGS revealed a frameshift mutation in APC, a missense mutation in KRAS. Variants of uncertain significance were: a missense variant in ERBB2 and a missense variant in KDR at amino acid 961 converting the wild type residue, Arginine, to Tryptophan (frequency 28.25%). Because of the high frequency of the KDR (VEGFR2) mutation, the patient was considered a suitable candidate for a VEGFR inhibitor and received regorafenib monotherapy, which is approved for this situation, at 80mg daily which was later reduced to 40mg daily and had CEA normalization as well as partial metabolic and radiologic response. The patient remained almost asymptomatic and without disease progression after 39 weeks.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1191
Gene URL
https://civic.genome.wustl.edu/links/genes/3153
Variant URL
https://civic.genome.wustl.edu/links/variants/502
Rating
1
Evidence Type
Predictive
Disease
Colorectal Adenocarcinoma
Evidence Direction
Supports
Drug
Regorafenib
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
27004155
Drugs
Drug NameSensitivitySupported
RegorafenibSensitivitytrue