• gene
  • KRAS ( K-ras or Ki-ras) is proto-oncogene corresponding to the oncogene first identified in Kirsten rat sarcoma virus and the gene product was first found as a p21 GTPase. (wikipedia.org)
  • There are two protein products of the KRAS gene in mammalian cells that result from the use of alternative exon 4 (exon 4A and 4B respectively): K-Ras4A and K-Ras4B, these proteins have different structure in their C-terminal region and use different mechanisms to localize to cellular membranes including the plasma membrane. (wikipedia.org)
  • Studies show patients whose tumors express the mutated version of the KRAS gene will not respond to cetuximab or panitumumab. (wikipedia.org)
  • Although presence of the wild-type (or normal) KRAS gene does not guarantee that these drugs will work, a number of large studies have shown that cetuximab has significant efficacy in mCRC patients with KRAS wild-type tumors. (wikipedia.org)
  • In the Phase III CRYSTAL study, published in 2009, patients with the wild-type KRAS gene treated with Erbitux plus chemotherapy showed a response rate of up to 59% compared to those treated with chemotherapy alone. (wikipedia.org)
  • Patients with the KRAS wild-type gene also showed a 32% decreased risk of disease progression compared to patients receiving chemotherapy alone. (wikipedia.org)
  • KRAS gene can also be amplified in colorectal cancer. (wikipedia.org)
  • A person who has Noonan syndrome may have inherited an altered (mutated) gene from one of his or her parents, or the gene change may be a new change due to an error carried by the egg or sperm or occurring at conception. (genome.gov)
  • This means that a person who has Noonan syndrome has one copy of an altered gene that causes the disorder. (genome.gov)
  • and a 1 in 2 (50 percent) chance to pass on the normal version of the gene to a child who will not have Noonan syndrome. (genome.gov)
  • In many individuals who have Noonan syndrome, the altered gene happens for the first time in them, and neither of the parents has Noonan syndrome. (genome.gov)
  • The relative severity of CFC when compared to Noonan syndrome may reflect the position in the biochemical pathway each gene occupies. (wikipedia.org)
  • EGFR
  • Although KRAS amplification is an infrequent event in colorectal cancer, it might be responsible for precluding response to anti-EGFR treatment in some patients. (wikipedia.org)
  • heart defects
  • CFC syndrome is characterized by a distinctive facial appearance, heart defects and mental retardation. (abcam.com)
  • Noonan syndrome is a disorder that involves unusual facial characteristics, short stature, heart defects present at birth, bleeding problems, developmental delays, and malformations of the bones of the rib cage. (genome.gov)
  • developmental
  • Despite the various possible developmental/learning issues that can be seen in NS, there are Noonan Syndrome patients that have advanced degrees, including at least two that have become attorneys. (wikipedia.org)
  • multiple lentigines
  • In addition, the affected father in our family presented with a hearing deficit since birth, which together with lentigines are two characteristics of NS with multiple lentigines (previously LEOPARD syndrome), supporting the difficulties in diagnosing individuals with RASopathies correctly. (diva-portal.org)
  • Diseases
  • Based on this shared pathogenetic mechanism and clinical overlap, these diseases have been grouped into a single family, which has been termed the Ras-MAPK syndrome, alternatively the RAS-opathies. (biomedcentral.com)