Cancer Causing Mutation Discovered In 1982 Clinical Trials

Researchers discovered a cancer caution mutation in 1982 that may be responsible for a small percentage of colon cancers, today.
Health officials found fusions of the TRK family of genes in close to 11 tumor types, including breast, lung, melanoma and other different types of cancers.

"We didn't initially discover the gene. But now technology lets us find the gene in actual patient samples and drugs are available to target these gene rearrangements, making it possible to treat TRK cancers in clinical trials in ways we only dreamed of thirty-two years ago," said Robert C. Doebele, MD, PhD, investigator at the CU Cancer Center and associate professor of Medical Oncology at the CU School of Medicine, in a news release.

Background information shows that the TRK family of genes, including NTRK1, NTRK2 and NTRK3, are all essential in the development of the nervous system. Furthermore, in the womb, these genes and the proteins they encode promote the growth and survival of new neurons. After birth, the genes are oftentimes unneeded in many tissues and remain dormant. Sometimes, cancers may wake them up, causing them to become improperly fused with other nearby genes in the TRK family that can restart their ability to signal cells to grow and become immortal, which can cause cancer in adult tissues.

"What we're finding is that while TRK fusions may not be the major cause in any single, major cancer, it's the cause of small percentages of many cancer types," Doebele added.

Though these types of cancers had little treatment options just a decade ago, an entire new class of drugs is now available, namely known as "tyrosine kinase inhibitors" that work by precisely turning off genes such as NTRK that send dangerously misplaced cell-survival signals, many of which are available via clinical trials.

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