Do Signs of Cancer Appear Before Diagnosis?

Research into genetic mutations suggests the possibility of tests that can detect cancer earlier.

According to a recent clinical trial performed by the Pan-Cancer Analysis of Whole Genomes project, cancer may now be identified even earlier. 

In the trial, cancer genomes were analyzed to determine the order that the cells showed mutations. 

Based on samples from more than 2,500 tumors and 38 types of cancer, the clinical trial shows that approximately half of the mutations occurred in only nine genes. 

This indicates that a small number of mutations, referred to as driver mutations, are responsible for healthy cells developing cancer. 

The discovery may lead to the development of new diagnostic testing involving imaging on patients who tested positive for cancerous cells.

3 Key Points

  1. The study indicates that it may be possible for mutations to be detected using “liquid biopsies.” This could allow mutations carried in DNA through the bloodstream to reveal the presence of tumors in other parts of the body.
  2. Previously, most cancer research has been focused on protein-coding. Still, due to genetic changes now discovered outside that region, this study has been able to determine the order in which cancer cells mutate.
  3. The research provides some insight into what Lincoln Stein of the Ontario Institute for Cancer Research in Canada calls the genome’s “dark matter” and how it contributes to cancer. The study identifies several important genes that lie outside the coding region.


“What’s extraordinary is how some of the genetic changes appear to have occurred many years before diagnosis, long before any other signs that cancer may develop, and perhaps even in apparently normal tissue,” said Clemency Jolly, a co-author of the research based at the Francis Crick Institute in London.


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#ClinicalTrials, #ClinicalResearch, #ObservationalStudy


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