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The identification of single nucleotide mutations with specific disease and single nucleotide polymorphisms (SNPs) among individuals is increasingly important for diagnosis of genetic disease, prediction of disease resistance or predispositions, as well as administration of drug dosages and design of personalized medicine.
The association of mutations with specific human inherited diseases has been known for over five decades [ 1].
The molecular epidemiology of p53 mutations allows the possibility of correlating particular mutations with specific environmental carcinogens and establishing one step in the causal pathway between exposure to carcinogens and the development of cancer.
An understanding of what the different KRAS mutations are in NSCLC and how they modulate the efficacy of cetuximab could perhaps reveal similar subsets of KRAS mutations with specific predictive value to treatment options of NSCLC.
Although this study was not designed to identify new oncogenes for glioblastoma, the association of PDGFRA, EGFR, and IDH1 mutations with specific subtypes suggests that inhibitors for these targets should be positioned within known subtypes to achieve greater clinical efficacy.
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Correlative studies comparing each type of EGFR mutation with specific clinical response to EGFR inhibitors are necessary, with special attention to poorly responding patients.
This suggests that NF1 mutations aggregate with specific other mutations and these may affect prognosis and response to specific treatment.
Amplification of the gene of interest in the affected individual(s) enabled revealing mutations associated with specific monogenic disorders.
Moreover, our previous results indicate that distinct mutations associate with specific metabolic phenotypes, an increased anaerobic glycolytic metabolism in cells containing codon 12 KRAS compared with cells containing codon 13 mutations.
Targeting more 'extreme' breast cancer phenotypes, particularly cases with early-onset disease, a strong family history (not accounted for by BRCA mutations), and with specific tumor subtypes, provides a route to progress using next-generation sequencing methods.
It is entirely possible that further examples may be found of founder mutations associated with specific populations concentrated in particular regions of the UK but larger studies will be required.
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transfer with specific
mutations with reduced
mutations with intrachromosomal
mutations with large
mutations with predictive
mutations with human
mutations with intestinal
mutations with unknown
mutations with TAF23-Mu
mutations with occasional
mutations with high
mutations with low
mutations with certain
mutations with asymmetrical
mutations with Midnite
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