Gene tied to risk for breast cancer spread identified
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Some breast cancer patients are at higher risk of having their disease spread elsewhere in their body because of an inherited genetic predisposition, researchers reported in Cell.
Why it matters: The vast majority of cancer deaths stem from the spread of cancer, rather than issues associated with the initial tumor.
- The new finding suggests that the DNA a patient is born with — rather than a mutation in the tumor itself — is driving cancer spread in certain breast cancer patients.
- It also opens the door to using an antibody that's already approved to treat patients with high cholesterol to suppress the genetic predisposition, the researchers said.
What they're saying: "We believe that this is a very specific signal, so we can develop therapies to really strongly block such signals," Rockefeller University researcher and oncologist Sohail Tavazoie told Axios.
- "We think that we can have a less toxic and a more effective way to prevent death from cancer," said Tavazoie, a co-author of the paper.
What they found: Tavazoie and his team wanted to better understand the role genes may play in driving the spread of cancer to distant organs.
- It comes after years of searching for specific mutations in cancer tumors that might allow them to more easily spread, Tavazoie said.
- The researchers analyzed genomes of breast cancer patients and narrowed in on a variant of a gene known as PCSK9 gene, normally associated with its role in elevating cholesterol.
- They injected the genetic variant into mice, and found that those with the variant had an increased risk of breast cancer spread.
- Collaborators at Lund University in Sweden validated the results in a group of breast cancer patients. They found that patients with the PCSK9 gene had a 22% risk of metastatic relapse at 15 years, whereas those without the variant had a 2% risk.
What's next: The study published Monday looks only at breast cancer patients, but researchers say they believe there are more such genes to be found in other cancers.

