Rather, the authors should be aware of the background mutations and their possible effect on their studies.
Notably, although we are aware of the fact that mutations occur in the branch leading to a node rather than in the base of a given node, for the sake of simplicity we used the term "nodal mutations" as outlined earlier.
In the early 2000s, every living participant in the gene-identification studies was invited to participate in a phenotyping study, which included detailed phenotype characterization and mutation testing, but no participants were aware of the presence of the p16 mutation in their family or their personal mutation status (24).
Anxiety and depression are relatively common in both sporadic and familial Alzheimer's disease and it is understandable that these symptoms may occur in presymptomatic mutation carriers who are aware of their mutation status and approaching the age at which they saw their parent develop symptoms.
All of the subjects in this study were aware of their mutation status, having undergone clinical diagnostic or predictive genetic testing at approved clinical centres separately to their involvement in research.
For most of the disorders, people with one mutated version of the gene and one normal version do not have the disease and often are not aware that they are carriers of the mutation.
At the time this study was done, clinical testing for BRCA1/2 was not available, and participants were not aware of their mutation status.
Four of these 13 were not already aware of their mutation through clinical testing.
Her colonoscopies were conducted by experienced gastroenterologists who were aware of her mutation status.
In the case of PGC production in Drosophila, many maternal effect mutations have been identified that cause reduced PGC numbers (Mahowald 2001; Lasko 2011), although we are not aware of any mutation that leads to increased PGC numbers.
