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What You Don’t Know About Your Breasts

I was sitting at the table with a dear friend one day, talking about Angelina Jolie. This friend of mine, Maggie Miller, is a certified genetic counselor at Providence Alaska Medical Center. She is beautiful, kind, incredibly accomplished, intelligent and insightful. She also spends the bulk of her days counseling women just like Jolie—as well as hundreds of others who may not fall into the same category, but who could still benefit from genetic testing.

I've always thought that because I have no family history of breast cancer, I have nothing to worry about. But it turns out, I could not have been more wrong; 80 percent of women diagnosed with breast cancer have no family history. This left me wondering how many other women could benefit from talking to someone like Maggie.

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Because when you take into account the fact that 1 in 8 women in the United States will develop invasive breast cancer over the course of their lifetime, and that there are all kinds of different breast cancers to contend against, you start to realize that knowledge is power.

So I sat down and talked to Maggie officially after that, asking her questions I think all women should probably know the answers to.

Who should consider genetic testing?

When a person starts off with a brick, though, it takes far fewer life pebbles for cancer to form in them.

There are basically two different types of risk categories for breast cancer: Women who have a strong genetic history (say, an aunt and mother who have both been diagnosed, or those who are of Eastern European Jewish descent) and women who may not have that genetic history, but who have experienced a build up of smaller risk categories over their lifetimes (things like getting their period before the age of 12 or being childless after age 30.)

If we were to think of those categories in tangible terms, a strong genetic history is like a brick, while those smaller risk categories are more like pebbles. Most cancer is sporadic, the product of many pebble-like risk factors adding up over the years. The average age of sporadic breast cancer is 63. When a person starts off with a brick, though, it takes far fewer life pebbles for cancer to form in them. Often these individuals are diagnosed young and get cancer multiple times.

There is a third type of factor, called familial or multi-factorial. This is when there are small genetic risk factors that are additive, as well as environmental risk factors that are shared amongst the family.

Anyone with a family history should consider visiting a genetic counselor for assessment and testing. There are risk assessment models for those with enough smaller risk factors to be concerned, and now there are even tests that evaluate the genetic pebbles that influence breast cancer risk. The pathway behind nearly every type of breast cancer is different, and almost every cancer has a unique fingerprint.

If you aren't sure what your personal risk might be, you can visit brightpink.org and take their risk assessment.

What tests are available?

There are panel tests now that can look at anywhere from six to 60 genes at the same time.

Everyone has been talking about testing for the BRCA1 and BRCA2 gene mutations since Angelina Jolie came out with her story, but those tests are not the only options available. For women with a strong family history, BRCA1 and BRCA2 testing may be the way to go—these are the tests that look for inherited gene mutations. But only 10 percent of breast cancers are the result of inherited gene mutations.

Let's think about BRCA1 and BRCA2 tests as being the fire trucks you might send out when you know the general area where a fire (cancer causing gene mutation) might be. That fire truck can check a few highly probable neighborhoods and likely find the flames.

But when you don't know the address of the fire in your family history, you don't necessarily know which neighborhood might be housing a fire, so sending a fire truck out would be a useless endeavor because a potential fire could be anywhere. That's when you need a helicopter instead.

Next Generation Sequencing or Panel testing can act as that helicopter.

There are panel tests now that can look at anywhere from six to 60 genes at the same time—a big difference from the gene-specific tests that only look at two or three at once. Tests like this (BROCA, BreastNext, BreastOvarian Cancer Panel, etc … ) can be great options for women who don't know whether or not there is a mutation in their family.

The downfall of these panel tests is that some of these genes are newly identified and they may sometimes identify an unclear result; think steam rather than a fire. That means they can turn up results that might indicate an increased cancer risk, but that aren't definitive, which can make it harder to come up with a plan moving forward.

There is another new option for those who do have some of the smaller factors that can lead to breast cancer: BREVAGen and BREVAGen plus. These tests evaluate the genetic pebbles in your history, taking into account both risk-increasing and decreasing pebbles, additive pebbles and genetic risk factors.

When is testing an option?

BREVAGen and BREVAGen plus results are not validated (studied to be effective) until you are 35 or older. BRCA-related cancer screenings (like Screening Breast MRI) aren't recommended until a woman is at least 25. While there are some rare cases where a woman may be tested earlier, the main goal is to wait until a woman is old enough to truly conceptualize her results and make adult decisions about how to deal with those results.

What are the options available if a mutation ("fire") is detected?

For some women, this intensive screening can provide peace of mind. But for others, they can wind up feeling like they are on a hamster wheel of stress and worry.

When it comes to breast cancer, the best prevention for someone who does have one of these identified gene mutations is a bilateral mastectomy—removing both breasts. But this is not your only option, and in fact, only about 50 percent of women in the United States will pursue that path when given positive results.

A mastectomy can reduce your risk of developing breast cancer by about 90 percent, but because some breast tissue remains in the armpits, there is still some risk of developing breast cancer in the future. Because of this, and just the extreme nature of a preventive mastectomy, some women will decide it is not the right path for them – even with a greatly increased risk.

For them, identifying these gene mutations can prompt increased screening for early detection instead. That might mean seeing a high-risk breast cancer provider to start off, then going in for an MRI scan three months later, and alternating between clinical exams and imaging every three months after that—maintaining that schedule indefinitely.

For some women, this intensive screening can provide peace of mind. But for others, they can wind up feeling like they are on a hamster wheel of stress and worry, eventually opting for the bilateral mastectomy simply to be done with all the screenings.

MRI technology has proven to be beneficial for early detection in high risk (BRCA positive) women, though, 70 percent of the time catching breast cancers as early as Stage 0 or Stage 1, while mammograms detected these same cancers between Stages 2 and 3.

There are also some medications that can be taken to reduce the breast cancer risk for those who have specific gene mutations.

When it comes to testing, what does insurance cover?

Insurance will usually cover testing for people who meet specific criteria, but every insurance sets their own criteria and doesn't necessarily base that off of national standards. So insurance coverage can vary, and you should call your plan to find out whether or not testing would be covered for you.

That said, there is now a lab that offers panel testing (that helicopter) to patients nationwide for only $475 out of pocket if insurance does not cover the testing. This can be a great relief for women who have concerns but don't fully meet insurance criteria.

The BREVAGEN Plus assessment is more universal because it is offered to women with only a couple of risk factors. The test can then clarify the woman's risk by noting which small genetic influences she has and providing a short term (5-year) and lifetime breast cancer risk score. BREVAGEN Plus testing is $250 out of pocket.

It is important to remember that these are still fairly new tests, and results may sometimes be inconclusive.

Unfortunately, greater test availability can also mean more women getting tested who don't necessarily warrant pursuing those tests—and if the result is steam instead of a fire, that can lead to more questions and anxiety, without anything definitive to apply to future testing.

Point being, you should absolutely talk to a genetic counselor about any concerns you may have, but not everyone will benefit from sending those helicopters out. Yes, it can provide peace of mind if those results are all negative, or a direction to go if there are some positively identified gene mutations, but it is important to remember that these are still fairly new tests, and results may sometimes be inconclusive.

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If there was any one message you could get across to women about their risks, what would that message be?

Genetics are actually the smallest cause behind cancer—our lifestyle is the problem.

As much as I love cancer genetics, and feel proactive and empowered when it comes to helping women to understand more about their cancer risks, I am equally passionate about maintaining an active life. I would tell all women (and men) that we need to move more. The research is in on this, and moving for 40 to 60 minutes a day five days a week, at a pace where you can still talk (but not sing) can reduce your cancer risk by 30 to 40 percent. Physical therapists in our center today are also using this methodology to help patients prevent recurrence. Genetics are actually the smallest cause behind cancer—our lifestyle is the problem. The number one thing we need to do to decrease our risks is change our lifestyle. And even if a healthy lifestyle doesn't keep you from getting cancer, it will give you a better chance of success in fighting that cancer.

So get out, get moving and get healthy.

Image via Twenty20/juansphotos

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