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This is due in part to how actionability is defined, either (a) in a broad context whereby a mutation is actionable if it has a diagnostic, prognostic, or predictive implication or (b) more narrowly to mutations that predict response or resistance to available drugs.
It is not singular mutations that predict patients' clinical outcome, but the presence of a high number of mutations and global T-cell responses in the tumor microenvironment.
His research has led to the identification of tumor mutations that predict prognosis and response to therapies in patients with MDS and has characterized a pre-malignant state of hematopoietic cells.
Two heterozygous mutations that predict truncated proteins, p.S81X and p.S275delinsRAfs, were identified in one patient.
We also analyzed tumor EGFR DNA for the presence of activating mutations that predict for response to EGFR-TKIs [ 11].
In several instances, this DNA has been found to harbor mutations that predict cancer occurrence (Gormally et al. 2006; Jackson et al. 2003).
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Affected individuals in the family were homozygous for an exon 12 missense mutation that predicted the amino acid substitution R587C.
Mayo itself, BIO pointed out, has licensed a test for a genetic mutation that predicts side-effects for a certain colon-cancer drug.
In one family, there was a nonsense mutation that predicted the replacement of a tyrosine by a stop codon (Y244X).
In another family, there was a missense mutation that predicted the substitution of an arginine by a histidine (R101H).
Given the observations concerning disease-related mutations, algorithms that predict the functionality of amino acid substitutions do so based on sequence information, structure information, or a combination of the two.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com