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Mayo Clinic breast cancer study finds new type of mutation
Date:4/15/2012

treat, breast cancer in a new way," says E. Aubrey Thompson, Ph.D., professor of Biology at Mayo Clinic's Comprehensive Cancer Center, and co-director of the Breast Cancer Translational Genomics Program.

"This is a novel discovery that will now require additional investigation," he says. "We need to understand what these fusion transcripts and proteins are doing."

Fusion transcripts are created when chromosomes break apart and recombine, an event that commonly occurs in cancer cells. During this process, fusion genes are created when two halves of normal genes become linked. Fusion genes (DNA) create fusion transcripts (RNA), which then produce fusion proteins.

"Mistakes are made," Dr. Thompson says. "That is one of the salient properties of tumor cells, because they are defective in repairing damage to their genes."

"These mutated proteins may have an entirely new, cancer-promoting function, or they may interfere with normal cellular functions."

Fusion transcripts are common in blood cancers, such as leukemia and lymphoma. Before this discovery, however, few were found in solid cancers such as breast tumors.

Because fusion genes, transcript, and protein are generally found only in tumors, they make ideal biomarkers to identify tumor cells, Dr. Perez says.

Also, proteins produced by fusion transcripts may be relevant to tumor growth, as has been seen in blood cancers and in lung cancer, she says.

"These transcripts may mark regions of localized chromosomal instability that are linked to growth of breast cancer. If we can develop drugs against these transcripts, they will be ideal therapeutic targets," Dr. Perez says. "We have a lot of exciting work
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Contact: Paul Scotti
scotti.paul@mayo.edu
904-953-2299
Mayo Clinic
Source:Eurekalert

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