The most frequent genetic losses involved CDKN2A/2B, TNFAIP3/A20, PRDM1, TCF3, and CIITA.
Somatic mutation of TP53 is one of the most frequent genetic alterations in human cancer (Olivier et al., 2010).
TERT promoter mutations were identified as the most frequent genetic alterations in hepatocellular carcinoma with an overall frequency around 60%.
Sickle cell anemia is a hereditary disease which, as a result of migration, constitutes one of the most frequent genetic disorders in northwest Europe.
Nephronophthisis (NPHP) comprises a group of autosomal recessive cystic kidney diseases, which constitute the most frequent genetic cause for end-stage renal failure in children and young adults.
NPM1 gene mutations are the most frequent genetic lesion in the 60% of adult acute myeloid leukemias (AMLs) with normal karyotype and no evidence of typical fusion genes (BCR/ABL1, PML/RARA, AML1/ETO, CBFB/MYH11, DEK/CAN).
Mutation of the NPM1 gene, causing delocalization of the protein, is the most frequent genetic lesion in acute myeloid leukemia (AML); it is considered a founder event in AML pathogenesis and serves as a favorable prognostic marker.
Allelic loss of chromosome 3p21.3 is the most frequent genetic alteration in many sporadic cancers, including hepatocellular carcinomas, gallbladder carcinoma, and breast cancer [6], [7], [8].
Amplification of 1q21 is the most frequent genetic alteration in hepatocellular carcinoma (HCC), which was detected in 58 78% of primary HCC cases by comparative genomic hybridization (CGH).
Recently, fusions between genes encoding ETS transcription factors and genes encoding prostate-specific genes, mostly TMPRSS2-ERG, have been reported as most frequent genetic alteration in early stages of human prostate cancer [58].
To date, the most frequent genetic alterations in HRS cells involve members of two main signaling pathways: nuclear factor-kappaB (NF-κB) and Janus kinase-Signal transducer and activator of transcription (JAK/STAT) [1].
