alec stone
Alec Stone MA, MPA, ONS Public Affairs Director

Although most cancers contain four to five driver mutations, those drivers remain unknown for about 5% of cancers, according to results of a series of studies examining genomes from 38 different cancer types. The international Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium reported the findings in a collection of 23 articles published in Nature and other affiliated journals.

National Institutes of Health (NIH) Director Francis Collins, MD, provided context for the study, which builds on previous work that NIH funded. “Because many cancer drugs are designed to target specific proteins affected by driver mutations, the new findings indicate it may be worthwhile, perhaps even life-saving in many cases, to sequence the entire tumor genomes of a great many more people with cancer,” Collins wrote on his NIH blog.  

Some highlights from the genome report include:

  • The average cancer genome is driven by four or five cancer-causing mutations.
  • Approximately 13% of cancer-related mutations were found in non-coding DNA, or portions of the genome that don’t code proteins.
  • Many cancer-causing mutations occur years prior to a cancer diagnosis, indicating the need to increase early detection and screening efforts.
  • The mutations were seen in nearly 100 different molecular processes, all with unique mutational signatures.
  • Some signatures were associated with known cancer causes, including aberrant DNA repair and exposure to carcinogens like tobacco smoke or UV light. Other signatures were unexplained, suggesting that far more research needs to be done.

According to Collins, “The findings represent a big step toward cataloging all the major cancer-causing mutations with important implications for the future of precision cancer care.”

Understanding the cancer genomics conversation is key to successful patient education for nurses. Learning about genetics and genomics and staying abreast of the latest information will help clear any mystery and put cancer genetics into perspective for nurses and their patients. Learn more about genetics, genomics, and how nurses can collaborate with genetic counselors on the Oncology Nursing Podcast