“…This supposition is corroborated by analyzing the Cosmic database, which document that genes of the pyrimidine de novo pathway are rarely mutated in cancer patients. More specifically, the rate of mutation of these genes in tumours is similar to that of non-cancerous tissues (Figure 6E.”
Somatic mutation data in the two paper is unavailable.
Several studies estimated mutation rates in non-cancer tissues as referred in this paper
A total of 80% of the samples had 2–39 exonic mutations …
…The burden of somatic mutations detected in non-malignant tissues in our study appears to be consistent with that reported elsewhere.
…For instance, Welch et al. (25) detected 5–15 exonic mutations per human HSC,
…and whole genome sequencing of peripheral blood of a super-centenarian (15) detected hundreds of somatic mutations at 60× sequencing coverage.
Investigating blood exome-seq data for 2728 cancer patients (with solid tumor), and focusing on 558 cancer associated genes, Xie et al. identified 77 somatic mutations (rare truncating variants and known hotspot variants) in 58 individuals (26).
But in Cancer genomes, mutation rates are higher:
Conclusion: Normal samples have
Germline mutation burden might be useful in comparing these genes.
VCF re-annotated using Ensembl’s VEP(Variant Effect Predictor)
use ExAC and TCGA (protein-coding genetic variations in 60706 humans)
Expression