The first comprehensive mutation profiling of 623 genes in 188 adenocarcinomas identified 26 significantly mutated genes, including known oncogenes (KRAS, EGFR, ERBB2, ERBB4, EPHA3 and other ephrin receptor genes, KDR, and FGFR4) and tumor suppressor genes (TP53, CDKN2A, STK11, NF1, ATM, RB1, and APC) [ 7].
Mutation profiling in mice provides direct evidence that somatic AR variants are selected by therapy, a finding validated in human metastases from distinct treatment groups.
In a separate study, single lung adenocarcinoma cells from this same PDX were evaluated by RNA-seq and expressed mutation profiling to study how heterogeneous cell populations respond to anti-cancer treatments [45].
We performed mutation profiling of formalin-fixed paraffin embedded tumors of multi-regional colon cancer and characterized the consequences of intra- and inter-tumor heterogeneity and metastasis using targeted re-sequencing.
This study was designed to detect hepatitis B virus (HBV) genome-wide mutation profiling with detailed variant composition in individual patients, especially quasispecies evolution correlating with liver disease progression.
By this analysis, mutation profiling achieved a similarly high specificity of 99.8%.
These results suggested that the genotyping-based mutation profiling platform was suitable for many clinical applications.
Diagnostic interventions that successfully introduce tumor mutation profiling to clinical practice must circumvent several technical and logistical hurdles.
We report the implementation of a genotyping and validation algorithm that enables robust tumor mutation profiling in the clinical setting.
Thus, tumor mutation profiling may refine patient stratification and/or disease prognosis in some pediatric brain cancers.
Thus, the OncoMap platform provided more extensive mutation information than earlier mutation profiling efforts which focused exclusively on oncogene mutations.
