Author response: Systematic identification of mutations and copy number alterations associated with cancer patient prognosis
Year: 2018
Type: peer-review
Abstract: Cancers are not created equal: even when the disease affects the same organ, it can run different courses between individuals. For example, amongst people with early-stage bowel cancer who undergo surgery, 60% will go on to live cancer-free but the remaining patients will see the illness come back within a few years. These differences in outcome are still poorly understood, but they may find their roots in the genetic changes present in tumor cells. Comparing the genomes of healthy and cancerous cells can help to understand which genetic modifications makes a cell go ‘rogue’ and start to multiply uncontrollably. Often, this happens because of a mutation, a change in the letters that compose our genetic code. However, looking at genetic differences between cancerous cells from different patients, or different tumors, can shed light on how certain genetic changes make the disease deadlier or more likely to reoccur. Smith and Sheltzer looked into the genomes of 17,879 tumors from patients whose clinical information was also available. The analysis revealed that specific genetic alterations were more common in either deadly or treatable cancers. Most of these changes were not mutations that affected a few DNA letters; instead, they were copy number alterations, whereby large portions of the genetic code are being repeated or deleted. These results suggest that while mutations certainly drive the development of the disease, other changes such as copy number alterations can tell us which cancers will be deadlier. Through this approach, Smith and Sheltzer were also able to identify copy number alterations that were associated with patients responding well to certain drugs. These findings now need to be confirmed on a different set of data. If they hold, new technologies may be developed so that the approach can be used cheaply and easily in the clinic. Ultimately, being able to examine copy number alterations in tumors may help physicians to tailor treatment for a particular cancer, or even a specific tumor.
Authors: Joan C Smith, Jason M Sheltzer
Institutions: Google (United States), Cold Spring Harbor Laboratory
Language: English
Subfield: Cancer Research
Domain: Life Sciences
Open Access status: gold
OpenAlex ID: W2983702332