Variant | Gene | Type | COSMIC ID | DNA Change (Coding Nucleotide) | Exon |
---|---|---|---|---|---|
KDR A1065T | KDR | missense | Unknown | ||
KDR D717V | KDR | missense | Unknown | ||
KDR copy number gain | KDR | CNV | |||
KDR copy number loss | KDR | CNV | |||
KDR any mutation | KDR | any | |||
KDR P263T | KDR | missense | 6 | ||
KDR R962H | KDR | missense | 21 | ||
KDR K270N | KDR | missense | 7 |
This gene is a known cancer gene.
This gene is a known cancer gene.
KDR encodes the protein VEGF2, a receptor tyrosine kinase that regulates angiogenesis and vascular development. While KDR mutations are rare, amplification or protein overexpression have been reported in small proportion of a variety of solid tumors. KDR P263T has not been characterized and the effect on protein function is unknown. These results should be interpreted in the clinical context.
KDR encodes the protein VEGF2, a receptor tyrosine kinase that regulates angiogenesis and vascular development. While KDR mutations are rare, amplification or protein overexpression have been reported in small proportion of a variety of solid tumors. It is unclear if KDR mutation plays a role in colorectal carcinoma pathogenesis; however, it may have a role in clinical outcome prediction and therapeutic response. For example, increased expression of VEGFA, FLT1, and KDR in colorectal carcinoma is associated with a poor prognosis and lack of response to bevacizumab therapy. Although the functional consequence of KDR K270N has not been characterized, it has been reported previously as a somatic variant in in colorectal carcinomas. These results should be interpreted in the clinical context. Most therapies blocking KDR signaling target the angiogenesis pathway in general, such as bevacizumab, an antibody that targets VEGF-A.
KDR (kinase domain receptor), also known as VEGFR2 or Flk-1, is a tyrosine kinase receptor for vascular endothelial growth factor (VEGF) and plays a key role in angiogenesis. While KDR mutations are rare, amplification or protein overexpression have been reported in small proportion of a variety of solid tumors. Genetic alteration in KDR have been identified in 10% of lung adenocarcinomas. KDR (VEGFR2) R962H lies within the protein kinase domain of the KDR. This variant has not been biochemically characterized; however, mutations in this locus have been identified in various tumor types. Most therapies blocking KDR signaling target the angiogenesis pathway in general, such as bevacizumab, an antibody that targets VEGF-A. These results should be interpreted in the clinical context.