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In the current study, we compared allele-specific qPCR assays for the most frequent activating mutations in EGFR, KRAS, BRAF and PIK3CA in tumor-positive fine needle cytological aspirates against histological material of primary tumors.
Exon 1 of KRAS, the site of the most frequent activating mutations in codons 12 and 13, and exons 6 to 14 of EGFR, corresponding to the transmembrane and extracellular domains, were sequenced after PCR amplification of each exon using the BigDye terminator kit v1.1 (Applied Biosystems) and the PhredPhrapConsed package.
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Urothelial carcinoma (UC) of the bladder, the most common type of bladder cancer, is characterized by several gene mutations of which the most frequent is activating mutations in the FGFR3 receptor protein.
In addition, high sensibility mutation detection methods were also developed to perform a mutational screening study for the most frequent EGFR activating mutations.
In acute myeloid leukemias (AMLs), the most frequent identified transforming events are activating mutations in the FLT3 receptor tyrosine kinase that constitutively activate survival and proliferation pathways.
13 15 Two insertion sites of HBV were most frequent: in proximity to TERT, activating telomerase, and in the MLL4 gene.
To date, the most frequent somatic molecular alterations identified are activating mutations in the guanine nucleotide-binding a-subunit 1 gene (GNAS) [ 4].
The next most frequent genetic alteration in MDS is activating mutations of the RAS homologues occurring in 20% of MDS patients reviewed in [ 49, 50].
The most frequent genetic changes in human melanoma are activating mutations in either BRAF or NRAS.
Lung cancer is the leading cause of cancer related deaths worldwide and mutation activating KRAS is one of the most frequent mutations found in lung adenocarcinoma.
Urothelial carcinoma (UC) is characterized by frequent gene mutations of which activating mutations in FGFR3 are the most frequent.
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