Pathology
Ras genes are the most common targets for somatic gain-of-function mutations in human cancer. Many of these mutant alleles encode proteins with aberrant biochemical and functional properties.
somatic mutations in:
colorectal adenocarcinoma
bladder carcinoma
thyroid follicular carcinoma
Spit nevus / Spitzoid tumors
malignant ectomesenchymoma (#26872011#)
Germline mutations that affect components of the Ras-Raf-mitogen-activated and extracellular-signal regulated (...)
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Activated in tumors
Articles
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HRAS
14 April 2004 -
ERBB2
11 February 2006ERBB2 ; CD340; HER-2; HER-2/neu; HER2; MLN 19; NEU; NGL; TKR1; c-erbb2
The oncogene originally called HER/NEU was derived from rat neuro/glioblastoma cell lines. It encodes a tumor antigen, p185, which is serologically related to EGFR, the epidermal growth factor receptor (MIM.131550).
ERBB2 encodes a member of the epidermal growth factor (EGF) receptor family of receptor tyrosine kinases (ERBBs).
ERBB2 has no ligand binding domain of its own and therefore cannot bind growth factors. (...) -
CCND1
13 April 2004cyclin-D1, CYLD1, BCL1
The proto-oncogene cyclin D1 has been implicated in the genesis of a large proportion of human tumors from diverse histological origins.
Function
activator of cdk4 and cdk6 in progression through the G1 phase of the cell cycle
Pathology
cyclin D1 overexpression in mantle cell lymphoma
The cytogenetic and diagnostic hallmark of mantle cell lymphoma (MCL) is translocation t(11;14)(q13;q32), resulting in overexpression of cyclin D1.
There are rare cyclin (...) -
KRAS
14 April 2004Ki-ras, KRAS2
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KIT
12 December 2003c-kit; CD117
Definition: The proto-oncogene c-kit / CC117 is a receptor tyrosine kinase recognized to initiate essential signal transduction pathways that transmit biological signals for cellular proliferation, differentiation, and metastasis. Aberrant expression or mutation of c-kit has been shown to be involved in the pathogenesis of many cancers. See also CD117 IHCDB
Expression in cells
c-KIT positive spermatogonia
Expression in tumors (Exemples)
chromophobe renal cell (...) -
PDGFRA
12 December 2003platelet-derived growth factor receptor (PDGFR) alpha, PDGFR-alpha