The term peronalized medicine is used for the identification of optimal drug type and optimal drug dosage for individuals, and is also beneficial both for preventive purposes and targeted treatments for a specific subgroup of patients. among all disease, some gene profiles are more notable and have been investigated recently. having the genomic alternations, could be an effective way to use specific treatments for an individual. her2 receptors mutations in breast cancer, egfr(epidermal growth factor receptor) mutations in nsclc (non-small cell lung cancer) and kras mutations in colorectal cancer are the mentioned(emerging biomarkers) studied mutations in this review article.
Biomarkers are characteristics that indicate a normal or pathogenic process or a response to a specific therapeutic intervention. biomarkers may have prognostic and/or predictive value. prognostic biomarkers provide information on the natural history of the patient’s disease independent of treatment, whereas predictive biomarkers provide information on the likelihood of response to a particular treatment.
In breast cancer, her2 mutations as a biomarker will lead to tumorigenesis and a noticable increment in her2 mutation is observed in lobular carcinomas
furthermore inherited germline mutations in brca1 or brca2 may cause to lethality through poly(adp-ribose) polymerase (parp) inhibitor interferance with the main function of these proteins which is dna base repairing.
in nsclc treatment, iressa and tarceva have had considerable roles. these targeted treatments act as inhibitor to egfr tyrosine kinase while more recent experiments indicate that this kind of therapy is not effective for another egfr mutation(methionine substituted for threonine at position 790) and hinders drug binding.
cetuximab an egfr monoclonal antibody is proven to be efficient in metastatic colorectal cancer. kras is one of the intracellular effectors of egfr pathway. the results show that the presence of kras mutation was significantly associated with the absence of response to cetuximab. consequently it is suggested that the wild-type kras status might identify patients with metastatic colorectal cancer who are likely to respond to cetuximab and to have a longer overall survival.
In every kind of disease, knowing the molecular and cellular profile of the tomour is essential for directing the right therapy to the patients.
Personalized medicine, oncology, biomarkers, mutations, breast and colorectal cancer.