Pratcorona M, Brunet S, Nomdedéu J, Ribera JM, Tormo M, Duarte R, et al. Favorable outcome of patients with acute myeloid leukemia harboring a low-allelic burden FLT3-ITD mutation and concomitant NPM1 mutation: relevance to post-remission therapy.
Thus, the different detection assay could interfere with the mutation relevance rate.
Since our hypothesis was that susceptibility to IA by genetic mutations could be influenced by the interplay of both TLR and cytokine gene mutations, relevance of the combined presence of the selected polymorphisms was assessed in a contingency table (i.e. association of occurrence of IA with the presence of at least one minor allele in both genes in the interaction term).
Genetically engineered cells with mutations of relevance to electroporation, cell membrane permeabilization by electric pulses, can become a promising new tool for fundamental research on this important biotechnology.
While carrier testing for a range of recessive conditions offers the chance to determine the genetic risk (if one exists) to future children, as previously stated, it is important that the test cover those mutations of relevance to the population (Cornel et al. 2014).
Nevertheless, the prevalence, mutation spectrum, clinicopathological relevance, human papillomavirus (HPV -genotype association and prognostic significance of ERBB2-mutated ICCs HPV -genotype well estassociation
It is also worth noting that, as more than 95% of adult OGCTs are carriers of the c.402C>G mutation [12], the relevance of OGCT-derived cell lines not carrying this particular alteration to study this type of cancer is not clear.
However, many of the proposed functions are not influenced by the most common PD-associated G2019S mutation, questioning their relevance to PD pathogenesis.
The importance of STRs has been recognised due to their abundance in the human genome, high mutation rates, and relevance to disease phenotypes and evolutionary processes.
Besides clear pathogenic mutations (nonsense mutations or insertions and deletions leading to truncated proteins), many unclassified variants also exist, for example, missense mutations of unknown relevance that constitute about 30% of all mutations detectable in the BRCA1 or BRCA2 genes [ 1, 2].
It is possible that others do not report silent mutations because the investigators do not wish to designate these as true mutations since their relevance is unclear.
