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The p16 mutation spectrum we observed is consistent with that mediated by reactive oxygen and nitric oxide species generated in response to inflammation and tissue damage [35].
Given the mismatch repair deficiency mutation spectrum, we further predict that the drivers of tumor formation are likely to be genes that contain homopolymers with proximal repeats.
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Assuming a constant mutation spectrum across genes, we can test whether the level of site recurrence observed at each site violates the expected number of mutations given the local trinucleotide.
We drew mutation spectrum barplot to present mutation spectrum of each sample.
We performed mutation spectrum and signature analysis to explore the relationship within tumor samples in each same patient.
We also defined the mutation spectrum of p53 and Ki-ras in 67 unselected cases by direct DNA sequencing.
We have determined the p16 mutation spectrum for a cohort of 304 patients with Barrett's esophagus, a premalignant condition that predisposes to the development of esophageal adenocarcinoma.
As Kastritis et al. [12], we found a strong bias towards missense mutations, in contrast to truncating mutations, in APC and we could show that the mutation spectrum in UC differs significantly from the spectrum seen in colorectal cancer.
We hypothesized that the MUTYH mutation spectrum could differ between BC and MAP patients.
In this study we aim to establish the mutation spectrum and to understand the role of somatic mtDNA mutations in esophageal cancer.
We also conducted clustering analysis on mutation spectrum to draw mutation spectrum heatplot to observe the similarity and difference within tumor samples.
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