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Many cancers are diagnosed through a tissue biopsy, where a small sample of a suspected tumour is examined under a microscope to look for cancer cells. This can be an invasive procedure, and researchers are looking for new ways to diagnose cancer using clues left in the blood or other bodily fluids instead.
In order for these techniques to be successful in the clinic, researchers first need to find better ways to reliably detect tiny amounts of cancer gene mutations in patient samples.
Researchers in Missouri recently developed a new technique that can accurately and sensitively recognize a specific genetic mutation. The technique, described in the journal ACS Sensors, has potential to be used in new, non-invasive tests for cancer diagnosis.
Nanotechnology detects cancer mutations
The researchers studied a genetic mutation called BRAF V600E. This mutation is found in a variety of cancer types, but they focused their study on thyroid cancer. This mutation is well-studied, and drugs are available that specifically target it. As a result, a technique that detects this mutation may not only help diagnose cancer, but also provide information about possible treatments.
The researchers developed the technology at a molecular scale, which allowed them to “read” a tumour’s genetic material at a high level of detail. They used a nanopore, which is an extremely tiny hole made of biological or synthetic material. Single molecules, such as a strand of DNA, can pass through a nanopore and be detected using specialized equipment.
They then designed a structure called a nanolock that can attach to tumour DNA that has the BRAF V600E mutation. As the mutated tumour DNA passes through the nanopore, the nanolock gives a signal that is different from when the healthy DNA passes through. In this study, this process acted like a fingerprint to help the researchers identify the mutated cancer gene.
The researchers found that the “nanopore-nanolock” system was an accurate and sensitive way to identify the genetic mutation in patient samples.
Technology could be used in cancer diagnosis
This study is the first to use the nanopore-nanolock technology to look for genetic mutations in tumour DNA. While these researchers only tested their technology with one genetic mutation, their aim is that it could be adaptable to many types of cancers.
One great advantage of this technique is its sensitivity. Finding a tiny amount of cancer in the background of normal tissue is a significant challenge. Current technologies can detect cancer mutations in biological samples, but they need higher amounts of mutated DNA for their analysis to be reliable. This new technology is able to detect very low levels of the mutation, which could eventually be used to detect cancer earlier.
While clinical use of the technology is still a long way off, these initial results offer an exciting possibility for a new non-invasive way to diagnose cancer, potentially leading to improved patient survival and quality of life.
Eileen Hoftyzer, BSc, and Carolyn Goard, PhD