NCPA - National Center for Policy Analysis

Link Between Cancer and Birth Defects

April 20, 2004

In the search for a cure for cancer, researchers have made an intriguing discovery: Many well-known cancers have much in common with rare childhood diseases.

While the early discoveries are tantalizing, the full implications of the research remain unknown. But the research is starting to transform the way doctors care for patients. Instead of grouping together diseases because they share similar sets of symptoms, treatments increasingly are based on the fact that certain diseases share "common disease pathways."

Some recent examples:

  • Ariad Pharmaceuticals Inc. in Cambridge, Mass., developed a drug to shrink cancer tumors; the drug, called AP23573, is now being tested in cancer patients but it's also being tested to see if it can benefit children with the genetic disease tuberous sclerosis complex.
  • Ariad and the Rothberg Institute for Childhood Diseases are testing the drug on human tissue cells that have the genetic defect associated with tuberous sclerosis complex, which affects one in 6,000 births.
  • There are also intriguing links emerging between breast cancer and Fanconi anemia after it was determined that BRCA2, one of the best-known genetic markers for breast cancer, is a Fanconi anemia gene too; Fanconi anemia, a rare genetic disease, is often associated with birth defects like thumb and arm abnormalities.
  • Harvard University's Alan D'Andrea says this discovery has already had diagnostic implications for women with breast cancer. At Dana-Farber, women with breast cancer are now tested for mutations in one of at least seven Fanconi anemia genes that sit in the same pathway as the BRCA2 gene.

One of the frustrations of the new research is that it has so far proved to be more helpful to cancer patients than to children born with rare defects.

Source: Amy Dockser Marcus, "Link Between Cancer, Birth Defects: Though Not Fully Understood, Connection Is Already Prompting Clinical Trials, Treatment Shifts," Wall Street Journal, April 20, 2004.

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