Year: 2015
Type: article
Abstract: Drivers and Passengers in the Cart Before the HorseRecent advances in molecular profiling allow for a rapid and relatively inexpensive assessment of multiple altered genes or gene products from small amounts of tumor tissues or blood.The challenge ahead is how to properly incorporate these results into clinical practice, and how to provide patients with the best possible yet evidence-based care.Herein, we provide a brief overview of genetic mutation profiling with a focus on next-generation sequencing (NGS) and possible clinical utility. Mutation Detection TechniquesHighly sensitive techniques are now available to detect mutations quantitatively and qualitatively.Typically, NGS involves creating "libraries" of short DNA fragments that are then sequenced massively in parallel to identify genetic alterations in a tumor.Since there are only a few known "driver" genes (ie, genes implicated in carcinogenesis and/or drug resistance), most tests do not query the entire genome but instead incorporate select gene panels, generally consisting of 50 to 400 cancer-related genes.An assay may include all coding exons or only known "hotspot" regions within a given set of genes.
Source: JAMA Oncology
Authors: Vered Stearns, Ben Ho Park
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: bronze
OpenAlex ID: W1487935305