Healthy Beginnings

Genetic Testing for Breast Cancer and Radical Mastectomy

Having the BRCA defect is by no means an automatic death sentence

Having the BRCA defect is by no means an automatic death sentence.

Are Women Being Misled into a False Sense of Security?

Some days I wonder if this is all a bad dream. How on earth have we come to this craziness? The latest and greatest “preventative” strategy for women genetically predisposed to breast cancer isamputation, which puts the wheels in motion for this type of “preventive surgery” to be covered by health insurance.

I’m referring, of course, to Angelina Jolie’s recent and very public decision to undergo a double mastectomy as a prophylactic measure. While she admits this is a very personal decision, the impacts to the public could be quite significant based on her celebrity influence.

Her mother died from ovariancancerat the age of 56, and Jolie carries a hereditary gene mutation associated with both breast- and ovarian cancer. According to Jolie, who revealed her decision in an op-ed in theNew York Times.

“My doctors estimated that I had an 87 percent risk of breast cancer and a 50 percent risk of ovarian cancer, although the risk is different in the case of each woman.

Only a fraction of breast cancers result from an inherited gene mutation. Those with a defect in BRCA1 have a 65 percent risk of getting it, on average.

Once I knew that this was my reality, I decided to be proactive and to minimize the risk as much I could….I wanted to write this to tell other women that the decision to have a mastectomy was not easy. But it is one I am very happy that I made.

My chances of developing breast cancer have dropped from 87 percent to under 5 percent. I can tell my children that they don’t need to fear they will lose me to breast cancer.”

It is nearly incomprehensible to me how any researcher can give such precise predictions of future cancer risk based on genetics. The only explanation is near complete ignorance of the science of epigenetics and the power we all have to change the expression of our genes.

Why Does US Recommendations Place Women with Gene Defects at Even Greater Risk?
The genetic test to check for mutations in the BRCA1 and BRCA2 genes (the BRCA stands for ‘breast cancer susceptibility genes’) costs about $4,000 in the US, when not covered by insurance.

Ironically, if you discover that you carry the mutated BRCA gene, the standard recommendation in the US is to get a mammogram and an MRI scan at least once a year thereafter, even if you’re under the age of 40. This is unconscionable, in my opinion. If anything, should you have genetic susceptibility for breast cancer, it would be wise toavoidionizing radiation as much as possible, not the other way around!

Several European countries including Britain, the Netherlands and Spain, have already altered their screening recommendations for women with BRCA mutations, advising them to get MRIs (which do not emit ionizing radiation) instead of mammograms before the age of 30.

Research has demonstrated that women with these genetic mutations aremoresensitive to radiation, and because the genes in question are involved in repairing DNA, radiation damage to these genes will subsequently raise your cancer risk. For example, a study3published just last year in theBritish Medical Journal (BMJ), found that women with faulty BRCA genes are more likely to develop breast cancer if they’re exposed to chest X-rays before the age of 30. According to Cancer Research UK:

“[W]omen with a history of chest radiation in their 20s had a 43 percent increased relative risk of breast cancer compared to women who had no chest radiation at that age. Any exposure before age 20 seemed to raise the risk by 62 percent.”

In response to these findings, Dr. Len Lichtenfeld, deputy chief medical officer of the American Cancer Society was quoted as saying. “This will raise questions and caution flags about how we treat women with (gene) mutations.”

And Anouk Pijpe of the Netherlands Cancer Institute, one of the authors in the above-mentioned study, told CBS News:

“We believe countries who use mammograms in women under 30 should reconsider their guidelines. It may be possible to reduce the risk of breast cancer in (high-risk) women by using MRIs, so we believe physicians and patients should consider that.”

Genetic Defects Are Not a Major Contributor to Breast Cancer
A key point for women to remember is that while women with BRCA defects have a 45-65 percent increased risk of breast cancer, only about TWO PERCENT of diagnosed breast cancers are caused by BRCA faults. So this genetic defect is nowhere close to being a primary cause of breast cancer. Clearly, other non-genetic factors play a far more significant role.

As pointed out by H. Gilbert Welch, a professor of medicine at the Dartmouth Institute for Health Policy and Clinical Practice and a co-author of “Overdiagnosed: Making People Sick in the Pursuit of Health,” Angelina Jolie’s personal story is completely irrelevant to 99 percent of all women because they simply do not have the BRCA1 or BRCA2 mutations. In a recent CNN article, he writes:

“Let’s be clear, the BRCA1 mutation is a bad thing… It is a powerful risk factor for these cancers…When people are at very high risk for something bad to happen, preventive interventions are more likely to be a good deal… When people are at average risk, the deal changes… It is a fundamental precept of medicine… Patients with severe abnormalities stand to gain more from intervention than patients with mild ones. Patients with mild abnormalities are more likely to experience net harm from intervention, simply because they have less opportunity to benefit.

The vast majority of women don’t have the BRCA1 mutation. They are at average risk for breast cancer… They should not have a preventive mastectomy.
…But there is a second question for women raised by Ms. Jolie’s piece: Should I be tested for BRCA1?
She seems to believe the answer is yes, pointing to the half-million women who die from breast cancer worldwide each year. But she neglects to point out that 90 percent of these deaths have nothing to do with the BRCA1 mutation. That’s because most women don’t have the mutation and because most breast cancer is sporadic.”

Furthermore, it’s also important to understand that even if you do carry a defective gene, that in and of itself does not mean that the gene in question is destined tobe expressed. In other words, having the BRCA defect is by no means an automatic death sentence. As you will see below, there are many things you can do to dramatically decrease your cancer risk through the lifestyle choices you make, which have a profound impact on your genetic expression.

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