Outsmarting breast cancer

In a groundbreaking study hailed as a roadmap for new targeted treatments, Professor Charles Perou and his colleagues collected DNA and tumor samples from 825 breast cancer patients for the first comprehensive look at the underlying genetics behind the deadly disease.

The researchers conducted an exhaustive examination of all 20,000 or so genes in the human body for each sample. They were looking for patterns of genetic mutations that promote the tumors and can potentially be counteracted with new or even existing drugs.

Its a mountain of data, but Perou never forgets those samples came from real human beings grappling with a terrifying diagnosis.

Its what drives him.

Dozens of those women will likely die of the disease. Some surely already have in just the few years since the samples were collected.

I think about that all the time. Personally, its a huge motivation for me. These studies are dealing with real human beings and every death is a tragedy, said Perou, a professor of genetics at the University of North Carolina and the lead author on the study which was published in the journal Nature and is part of a large federal project, the Cancer Genome Atlas, looking at genetic mutations associated with various types of cancer.

Perou said the term genetics can be confusing. Whats at issue is not the so-called breast cancer genes, by which a person inherits a susceptibility to breast cancer. About 10 percent of women with breast cancer fall into that category.

We are talking about the other 90 percent of women who are presumably born with no particular tendency to develop the disease. For those women, one in eight will develop breast cancer and seven in eight will not.

In all those cases, there are genetic mutations that cause the disease, Perou said.

The genome study does not address the vital but murky question of what causes those mutations.

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Outsmarting breast cancer