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The third level contained microdissected targets with greater than two high clonality mutations with a mutational load greater than 2 and was defined as having high ML.
Mutation testing of 28 unrelated TAAD patients revealed 4 known and 6 possibly pathogenic mutations with a mutation yield of 32%.
Two recurrent tumors treated with temozolomide (TMZ) had an enormous number of somatic mutations with a characteristic signature and were considered to be TMZ-induced hypermutators (Fig. 5a 13.
Testing was performed for specific mutations with a clear establishment to disease.
The analysis of the sequences did not evidence new mutations with a functional effect on the development of disease.
"For example, gliomas that recur after treatment with the DNA alkylating agent temozolomide have been shown to carry huge numbers of mutations with a signature typical of such agents" [79].
Yet, the amount of variability for substitution rate in LTRs remain high to the point that even LTRs belonging to the same element could accumulate mutations with a 2-fold differential rate between them.
Quite often, common mtDNA diseases are related to mutations with a heteroplasmic status.
Nevertheless, the association of oncogenic mutations with a favorable prognosis is not without a precedent.
HLA-associated mutations with a low reversion rate accumulated as a footprint in this Thai population.
Tissue-specific differences in NMD can result in PTC mutations with a phenotype in one tissue and not another.
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