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The AKT1-E17K mutation was initially identified as a SNP, rs34409589, but in a recent publication it was found to be a somatic mutation and was found in 3 of 51 colon cancers [ 27].
However, the mutant allele was relatively low compared to the wild-type allele, suggesting that the single nucleotide change detected at R157 in MRT-8 was most likely to be a somatic mutation rather than non-functional SNPs.
For the pairwise comparisons in TP1, where four genomes and exomes were sequenced, the two samples not involved in the comparison were always available for further clarification, e.g. a variant detected in the blood sample of the CD twin and not in the blood sample of the healthy twin is highly unlikely to be a somatic mutation if we can also detect it in the bowel biopsy of the healthy twin.
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31.0% and 21.1% reads in the N_with_TAI and T_with_TAI samples from this locus are mutated (see Figure 4G), suggesting it is a somatic mutation in this patient.
These data document that the AR gene mutation in E006AA was a somatic mutation that likely occurred prior to gene amplification and X-chromosome duplication.
However, it is unclear if this is a somatic mutation, as there is no indication whether this genetic change was also observed in the paired normal colon sample [23].
y is defined as '1' if the site is a somatic mutation, and '0' otherwise.
We hypothesize that the duplication in 17p13.2 is a somatic mutation resulting in mosaicism of the affected twin.
A specific example was a somatic mutation that alters the DNA-binding motif of transcription factor YY1 found in 14 patients with insulin-producing adenomas.
There is some evidence to suggest that the pathogenesis involves vascular deficiencies during development, while another possibility is a somatic mutation.
MT-immunopositive crypt frequency has shown a dose response to three different chemical mutagens (Jasani et al, 1998; Cook et al, 2000; Donnelly et al, 2004), which strengthens the evidence that it is a somatic mutation marker.
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