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Although EGFR mutations were detectable by both PCR direct sequencing, which has generally been used to detect the mutations and the Scorpion ARMS method, mutation status determined with Scorpion ARMS predicted response to gefitinib in our study (Kimura et al, 2006).
In the Poetsch study related mutations were also reported in three melanoma cell lines, although in a different study of melanoma cell lines no mutations were detectable [18].
Three different mutations were detectable in those three children.
In the present study, all mutations were detectable with 5 10% sensitivity.
Interestingly, FAT1 mutations were detectable in a considerable number of adult T-ALL patients (8/68, 12%, Supplementary Table S3).
In RTSupB15 cells, no mutations were detectable in Bcr-Abl exons 4, 6, and 7 upon analysis.
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Somatic mutations are detectable by a sequence analysis when the tumour has at least more than 5% of cancer cells.
These studies also observed a surprising number of discordant samples where p53 immunohistochemistry (IHC) was positive but no mutation was detectable.
The Italian team and a separate group led by oncologist Luis Diaz of Johns Hopkins University in Baltimore, Maryland, have now independently found that the KRAS mutations are detectable in blood samples from patients whose tumors became drug resistant, a technique Bardelli calls a "liquid biopsy".
Oncogenic KIT mutations are detectable in 75 85% of all GISTs, even in small, incidentally discovered lesions.
None of these mutations was detectable in blood derived DNA of the same patient by Sanger sequencing proving the somatic origin of the mutations.
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