Epigenetics Research: Open Access
Open Access

Science Journals In Molecular Diagnosis

Molecular diagnostics is a part of laboratory medicine, which relies on the detection of individual biologic molecules. The potential of molecular genetics tools was initially recognized by oncohematologists, given that specific chromosomal translocations may significantly aid the diagnosis of various leukemias and lymphomas. The emergence of practical applications of molecular oncology is largely attributed to the development of user-friendly methods of molecular analysis. The invention of PCR (polymerase chain reaction) led to an enormous breakthrough in clinical DNA testing: PCR-based techniques require relatively simple instrumentation and infrastructure utilize only minute amounts of biological material and are highly compatible with clinical routine. The development of immunohistochemistry (IHC), i.e., the method allowing the visualization of specific antigen within the tissue, dates back to the mid XX century. IHC was adapted for the clinical determination of the level of expression of estrogen receptor (ER) more than thirty years ago; this was a truly historical advance in personalized oncology, as it changed medical attitudes toward the most common oncological disease, i.e. breast cancer (BC), by tailoring endocrine therapy to a laboratory. For the time being, some conventional protein-targeted tests, e.g., IHC or determination of tumor-specific serum markers (PSA, CA-125, etc.), are rarely discussed in the framework of molecular diagnostics. The latter term is usually applied to DNA- or RNA-based assays as well as to some modern sophisticated proteomic technologies