Only twenty instabilities were finally confirmed, most of them affecting the homopolymeric stretch located in the second hypervariable segment (HVS-II) around position 310, which is well known to constitute an extreme mutational hotspot of length polymorphism, as these mutations are frequently observed in the general human population.
CDC25C mutations are frequently found in FPD/AML and mutated CDC25C disrupts the G2/M checkpoint and promotes cell cycle progression.
p53 gene mutations are frequently identified in ovarian cancer tissue.
Ras mutations are frequently found in human cancers and play a fundamental role in tumorigenesis.
BRAF gene mutations are frequently seen in both inherited and somatic diseases.
De-novo dominant mutations are frequently identified; somatic mosaicism and recessive disorders are also seen.
MLL2 and MLL3 mutations are frequently nonsense or frameshift, resulting in a truncated protein lacking the active SET domain (Morin et al., 2011; Parsons et al., 2011; Pasqualucci et al., 2011b; Pugh et al., 2012; Stransky et al., 2011).
This is suggested by the fact that precursor B cells carrying such characteristic mutations are frequently found in newborns but the prevalence of leukemia is approximately a hundredfold lower [2, 3].
Second, H3F3A mutations are frequently exclusive with IDH1 mutations and commonly co-occur with ATRX/DAXX, PDGFRA, and TP53 alterations, especially in G34 mutant tumors (Schwartzentruber et al., 2012; Sturm et al., 2012).
First, mutations are frequently introduced into the viral genome by the error prone viral reverse transcriptase and through the actions of host cellular factors, such as the APOBEC family of nucleic acid editing enzymes.
Oncogenic RAS mutations are frequently observed in AML, and are associated with beneficial response to cytarabine.
