Healthcare Technology Featured Article

May 02, 2012

Striking Discovery Made About New Breast Cancer Gene that Could Lead to Earlier Diagnosis and Treatment


What would you think if you could know years in advance that you had a high risk of developing breast cancer down the line?

As a survivor myself, I’m not so sure I would want to know. Sounds dumb, I know, but even though I wound up on the wrong side of the percentages (had no genetic link to breast cancer, yet developed it just the same), I think I would take my chances.

According to a story at gizmodo.com, a new blood test predicted cancer in half the women in a study three years before they were diagnosed with it, with a simple blood test looking for a different gene than the ones currently tested for, BRCA1 and BRCA2.

This new test, which identifies a genetic change that increases the risk of breast cancer by 50 percent, could allow doctors to identify women at high risk of the disease years before they develop a tumor. It’s kind of like those gene tests they have for other debilitating or fatal diseases. If you had the gene, would you really want to know? There’s always the chance you could indeed have the gene and never develop the disease, but, knowing me, I’d spend the rest of my life worrying about it.

The research was published in Cancer Research from an analysis of blood samples from almost 1,400 women of different ages, almost half of whom went on to develop breast cancer. Through the investigation of those samples, the researchers were able to identify a strong association between molecular changes in a white blood cell gene, called ATM, and breast cancer risk, according to the story.

For years those likely to be diagnosed with breast cancer because of family history have had the tests known as BRCA1 and BRAC2, which identify genes that cause breast cancer. I had this test and came up negative, after being diagnosed and treated for cancer. 

With these initial tests, researchers found 1,000 mutations in the BRCA1 gene, many of which are associated with an increased risk of cancer. Interestingly, the gene itself, when its DNA remains unchanged, acts as a tumor suppressor, according to the U.S. Library of Medicine. 

Now the ATM alteration has been found to double lifetime risk of developing breast cancer, according to the gizmodo.com story.  “The molecular changes were extremely clear in women under the age of 60,” the story reports, the women more typically at higher risk of advanced disease and of dying. The story quotes Dr James Flanagan, the lead researcher, as saying the changes were observed about three years before cancer was diagnosed.

Flanagan told The Telegraph, “We are working towards prevention. If we can identify women at high risk of cancer we can work towards preventing it and could reduce the incidence of breast cancer quite dramatically. We have found one marker, we need to work towards finding them all and then we will have a more useful test."

Flanagan predicted that we may now see “a sea change” in how cancer is diagnosed and treated. 




Edited by Brooke Neuman
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