When <50% of the DNA was mutated, no mutations were reported due to the analytical limit of detection of the assay, which was 50% for each LOH.
In the largest reported study, 15 different mutations were reported in 29 patients with no evidence of a genotype phenotype correlation in that study (Quartier et al, 2004).
Unfortunately, tumour tissue was not assessed for EGFR mutation analysis due to the absence of informed consent for mutational analyses as the trial was conducted before significance of EGFR mutations were reported.
Furthermore, MBD4 mutations were reported in 14 cases of human cancer with microsatellite instability, but not in tumour without microsatellite instability.
The viral factors of hepatitis B virus (HBV), such as genotypes and mutations, were reported to affect the development of fulminant hepatitis B (FHB), but the mechanism is still unclear.
Soon after, DNMT3A mutations were reported in AML cohorts from others, with frequencies as high as 22.1% (Ley et al., 2010).
In 2012, Somatic DDX41 mutations were reported in the study of sporadic acute myeloid leukemia (AML) syndrome by Ding et al. (2012).
The BRCA1 Associated RING Domain (BARD1) gene has been identified as a high penetrance gene for breast cancer, whose germline and somatic mutations were reported in both non-BRCA1/2 hereditary site-specific and sporadic breast cancer cases.
Furthermore, small de novo mutations were found to be overrepresented among glutamatergic postsynaptic proteins [59] and genes harbouring detrimental de novo mutations were reported to be enriched in networks affecting protein interactions [65].
In the Iressa Pan-Asia Study (IPASS), EGFR mutations were reported to be the strongest predictive biomarker for progression-free survival and objective response rate to first-line gefitinib versus carboplatin/paclitaxel (Fukuoka et al., 2011).
Three mutations were reported to be specifically associated with paediatric-onset inflammatory bowel disease.
