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European study of breast cancer mutations may help Pitt researchers target cellular changes

| Monday, May 2, 2016, 11:05 p.m.

A vast European study of breast cancer's genetic mutations could help University of Pittsburgh researchers target cellular changes that signal the onset of the disease — information that would aid the search for cures.

The study, published online Monday by the journal Nature, identified 93 mutated genes that drive the development of breast cancer by sequencing all of the genes in a group of cancer tumors. Authors say those genes likely make up the “substantial majority” of mutations within the human genome that are associated with breast cancer.

“This is kind of like your dictionary of what's gone wrong,” said Adrian Lee, a professor of pharmacology and chemical biology at the University of Pittsburgh Cancer Institute.

Cancer develops when normal cells mutate. Some of the biggest, recent developments in cancer research have involved zeroing in on which genes mutate and how they do so. Targeting the mutations and the mechanisms by which they change helps develop drugs to stop the changes.

Lee referred to the study's results as breast cancer's latest blueprint. The Cancer Genome Atlas, the largest similar effort in the United States, sequenced about 3 percent of the genome, he said.

He and other Pitt researchers will be able to download the results and study the mechanisms at work in the mutations — a next step in developing treatments.

“If we could figure out the earliest event that's causing that cancer, we could prevent it,” he said.

Researchers in the study analyzed whole-genome sequences of 560 breast cancer tumors, according to the study. Among the findings was the fact that the 10 most frequently mutated genes accounted for 62 percent of tumor drivers, according to the results.

Gene Finley, Allegheny Health Network's deputy director of medical oncology, said the study represents an exciting development in a field that has been producing new developments at a rapid pace in recent years.

“Since the late '80s, early '90s, we've known that cancer is a disease of DNA,” Finley said. “We know that certain hallmarks of cancer are mutations in critical genes, which involve the cellular machinery for growth and division … We're just getting better and better at it and narrowing down our targets.”

Wes Venteicher is a Tribune-Review staff writer. Reach him at 412-380-5676 or wventeicher@tribweb.com.

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