Breast Gene Discovery Could Transform Treatment

Thursday, 07 Feb 2013 02:12 PM

By Nick Tate

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Scientists have discovered a genetic defect implicated in the majority of breast cancers — a finding that may change the way the disease is diagnosed and treated.

In a new report in the journal Nature, University of Minnesota researchers said they have identified a human enzyme that causes DNA mutations seen in breast cancer patients. The identification of the enzyme — called APOBEC3B — could pave the way for the development of new screening tests, prevention approaches, and therapies for breast cancer.

"We strongly believe this discovery will change the way mutations in cancer are viewed,” said Reuben Harris, an associate professor of biochemistry, molecular biology, and biophysics who helped lead the research that led to the finding. “And, hopefully, it will allow cancer researchers to develop new treatments [and] approaches that can prevent these mutations before they become harmful."

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The discovery by Harris and colleagues was an outgrowth of the team’s HIV research, which had found APOBEC3B and related enzymes can protect people from some infectious viruses. But in studying the enzyme, Harris and his team found DNA mutations cause APOBEC3B to be produced in great quantities in breast cancer patients’ cell lines and tumors.

As a result, the enzyme is a biological "double-edged sword" — offering protection from some viruses, such as HIV, but produces mutations that promote cancer, he said.

"DNA mutations are absolutely essential for cancer development," said Harris. "Our experiments showed the APOBEC3B enzyme causes mutations in the genome of breast cancer cells. From this, we were able to reasonably conclude that the APOBEC3B is a key influencer in breast cancer."

Harris said the findings suggest high APOBEC3B levels could be tracked to indicate the early presence of breast cancer through a simple blood test that could speed treatments.

The research may also pave the way for developing new drugs that block APOBEC3B from causing DNA mutations, “just as sunscreen prevents sun from causing mutations leading to melanoma,” he said.

“Ultimately, we hope our discovery leads to better therapeutic outcomes for patients," added Harris.

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