RESUMO
Cancer remains the second leading cause of death worldwide and newly diagnosed cases have increased at an alarming rate. One in every four people has a lifetime risk of being afflicted with cancer. Early diagnosis, which is essential in reducing morbidity and mortality, requires the development of highly sensitive and specific techniques to identify and monitor molecular changes for cancer-specific genetic and epigenetic markers. Among these, fluorescent in situ hybridization (FISH), Polymerase Chain Reaction (PCR), DNA microarray and NanoString technologies are notable. Recent advances in the development of efficient and cost-effective next-generation sequencing (NGS) has enabled whole genome, exome and transcriptome analysis. This review focuses on the features and applications of important molecular techniques to detect various genetic mutations thus enabling improved diagnosis, treatment and outcome.
