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Among these changes, there were both well-characterized mutations and mutations affecting aminoacid not previously found to be mutated in human cancers.
As proof of principle, we utilized the 49 tumor RNA-seq data to screen for sequence alterations in 90 genes known to be mutated in human breast cancers.
ERRFI1 has recently been reported by Zhang et al (2007) to be mutated in human non-small-cell lung cancer cell lines and in one primary tumour.
An overview of Wnt pathway components which have been found to be mutated in human tumours is presented by Thorstensen and Lothe [ 12].
The APOLD1 gene (MIM #612456) encodes a vascular early response gene [Regard et al., 1997] that has not previously been reported to be mutated in human disease.
The first dataset contains genes found to be mutated in human tumours (Sanger Cosmic) and the second one includes human genes with cancer related annotation in the National Center of Biotechnology Information databases (Entrez section in CancerGenes).
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The genome of a flat worm called Schmidtea mediterranea contains many genes that cause cysts to form when their equivalents are mutated in humans.
PIK3CA has been reported to be mutated frequently in human cancer, particularly in common cancer types such as breast, colorectal, endometrial and prostate [ 8- 16].
PTPRD and POT1 have been shown to be mutated or downregulated in several human cancers, including neuroblastoma, lung cancer, and chronic myeloid leukemia; 22, 24, 25 thus, further analysis of these gene alterations in a large number of MRT samples would be necessary to assess their involvement in the pathogenesis of MRT.
c-Src and other SFK members appear to be rarely mutated in human tumors, a fact that has led to their delayed recognition as therapeutic targets for cancer treatments [ 3].
These particular p53 mutation sites, which are rarely mutated in human cancers in general, are found in BEN patients (Nedelko et al., 2009).
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