The increasing rates of aneuploidy that we observed with older age could be due to greater somatic mutation rates or accumulation with age, and/or reduced capacity for genomic maintenance, for instance because of attrition of telomeres (Sahin and Depinho, 2010).
α is the multiplicative factor by which a mutator mutation increases the somatic mutation rate per cell generation, e.g. the magnitude of the genetic instability.
Araten, D. J. et al. A quantitative measurement of the human somatic mutation rate.
The primary myelofibrosis genome had a low somatic mutation rate, consistent with that observed in similar hematopoietic tumor genomes.
This is in close agreement with the somatic mutation rate reported for PTPRS by DFCI (57/619, 9.2%)6 (Supplementary Fig. 3).
Finally, we describe methods for reducing false-positive variant calls in the analysis of hematologic malignancies with a low somatic mutation rate.
(a) Number of patient samples (y axis) necessary for detecting a cancer gene, as a function of the background somatic mutation rate of the tissue (x axis) and the fold increase in mutation rate of the cancer gene above this background (coloured lines).
In 10,522 cancer genomes from The Cancer Genome Atlas, aneuploidy was correlated with TP53 mutation, somatic mutation rate, and expression of proliferation genes.
Environmental mutagens can drive this process; however, sometimes our baseline somatic mutation rate is sufficient.
We further set pm = 10−7, according to the estimated somatic mutation rate.
In this respect, we know surprisingly little about the normal baseline somatic mutation rate.
