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(A ) Locations of the mutations in the three genes that were mutated at least three times.
For instance, a systematic analysis of 486 different histone H3 and H4 mutations in yeast (where every residue was mutated at least one way) showed that only 11 of 79 N-terminal tail deletions resulted in lethality, a phenotype that also depends to some extent on strain background [ 9].
The resulting difference was still significant for the sites that had mutated at least 6 times in the human mtDNA tree (Table 5).
Uniquely, every gene specific to the MMR pathway was mutated at least once in the HML subset of ER+ tumors (Fig. 3a).
Database mining and a literature search identified 76 kinases that have been found to be mutated at least twice in multiple cancer types before.
We found three genes that were mutated at least three times: BEM3 (10/10), NRP1 (5/10), and BEM2 (3/10).
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We verified that the I- SceI moiety of the construct is also functional, cleaving and mutating at least 9% of chromosomes harboring an I- SceI site on a transgene.
We considered a pathway to be mutated if at least one of its genes was found mutated.
The criterion for the mutation hotspot was that the same base had to be mutated in at least two tumours.
From mutation data, we selected 51 genes such that each gene is mutated in at least one of the 107 cell lines.
Five cMS-bearing genes identified from the genome-wide search and without existing mutation data (SFRS12IP1, MED8, ASXL1, FBXL3 and RGS12) were found to be mutated in at least 5 of 11 (45%) of the MSI-High cell lines tested.
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