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Genes with cMS mutations are potential sources of targetable proteins for immune therapy strategies.
Therefore, all non-silent somatic mutations are potential candidates for biomarker development.
Literature survey [ 21– 26, 26] on discovered mutations also revealed that the mutations are potential drug targets.
Our findings suggest that inflammation-mediated damage to mtDNA, mtDNA repair processes, and clonal expansion of mtDNA mutations are potential therapeutic targets particularly relevant to the progressive stage of SPMS.
Evidence has also demonstrated that KRAS mutations are potential markers for prediction because tumors with KRAS mutations are significantly associated with resistance to EGFR antibody based therapies [ 7- 11].
Such activating KIT gene mutations are potential targets for therapeutic intervention with imatinib, a novel competitive inhibitor of a family of tyrosine kinase receptors including BCR-ABL, ABL, KIT, and PDGF-R.
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These landmark studies have identified infrequent driver mutations that are potential targets for therapeutic intervention with approved or investigational drug treatments, among other important discoveries.
GNAQ and GNA11 mutations, which are potential drivers of MAPK activation, have been reported in blue nevi and in up to 85% of cases of uveal melanoma [ 10, 11, 15].
Note that here we implicitly assume that all non-synonymous mutations in driver genes are potential driver mutations if they are selected by a method.
Although activating mutations in PIK3CA are potential biomarkers for resistance to treatment with anti-EGFR monoclonal antibodies in metastatic CRC, some patients with PIK3CA mutations may benefit from treatment with the PTGS2 inhibitor aspirin (Liao et al, 2012; Mao et al, 2012; Tougeron et al, 2013).
Previous studies were based on ascertainment through clinically affected subjects, 1 6 were focused on one specific mutation, and studied unrelated older subjects in whom somatic mutation or mutation loss through segregation are potential confounding factors.
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