Progress in utilizing ctDNA was recently reviewed [ 27], with the authors concluding that this approach shows great promise for the purpose of detecting minimal residual disease [ 28], or helping to improve diagnosis by looking for mutations specifically associated with a particular disease type [ 29].
The tight relationship between NER and the checkpoint response started to become clear when, in budding yeast, a rad14 mutant, which is defective in assembling a competent pre-incision complex, was identified in a screen for mutations specifically inactivating the DNA damage checkpoint in response to UV irradiation, while leaving intact the DSB-induced checkpoint [55].
Therefore, the localization and identification of mutations specifically affecting spermatogenesis provide invaluable information for investigating the causes of male infertility.
Analysis of publicly available databases can help identify potential candidates for genes or mutations specifically related to the cancer phenotype.
Through the temporal dissection of aberrations, we identified driver mutations specifically associated with steps in the progression of prostate cancer, establishing, for example, loss of CHD1 and BRCA2 as early events in cancer development of ETS fusion-negative cancers.
In agreement with this finding, the level of c-Myc in HSCs from mice heterozygous for this Fbxw7 mutation specifically in the haematopoietic system was greater than that in control HSCs but was still lower than that in Fbxw7-deficient HSCs.
Taken together, these results suggest that EMC assembly is critical for Erh1 association with its target loci, and that the Mmi1W112A mutation specifically disrupts EMC assembly without affecting other essential function(s) of Mmi1.
Finally, despite using a very sensitive method and a mutation-calling script written specifically for this purpose, no samples with NPM1 mutations of VAF ≥ 0.008 were identified.
That applies tremendous selection pressure, specifically for mutations in the centromeres that maximize the chances that one of the chromosomes will make it into the egg, Malik and Henikoff argue.
Recently modified TILLING protocols have been developed specifically for mutation detection in wheat.
