Let’s talk about breast cancer risk—with an expert

Let’s talk about breast cancer risk—with an expert

When it comes to breast cancer risk, several factors come into play. Family history carries the greatest weight, but there’s a big difference between a great aunt who had breast cancer in her 70s and your mom being diagnosed when she was 29. That’s what happened to me, which is why I started getting annual mammograms and ultrasounds at the age of 25 (and started annual MRIs after my first biopsy at age 30).

In addition to annual screening (which is imperative after the age of 40), you may be a candidate for genetic testing that looks at additional genes to help further assess your lifetime risk of developing breast cancer. Getting tested for 30 to 80 gene mutations (BRCA 1 and 2 genes are just two) is generally the first step, and it’s (physically) as easy as analyzing a bit of your blood—but yes, there is an emotional aspect that needs to be acknowledged as well (which is where an experienced doctor or genetic counselor comes in).

I tested negative for BRCA after my mom tested positive years ago. I also had two of these “extra” panels performed before I was officially diagnosed in February of this year—and both indicated I was at an elevated risk.) This is where things get a bit more complicated, so I reached out to breast cancer and breast surgery expert Dr. Heather Richardson of the Bedford Breast Center in Los Angeles for some clarification about genetic testing as a whole—and several other pearls of wisdom.

InsiderBeautyBuzz: Who should be tested for the BRCA gene and other genetic mutations?
Dr. Richardson: If there’s a breast cancer history in a family, I (and most other doctors) believe that everyone in the family should be tested for genetic mutations to help analyze risk. If your dad’s sister had breast cancer, she should be tested (if possible), and your dad should be tested to see if he could have potentially passed it along to you. The good news is, if your mom or dad test negative for gene mutations, they cannot pass a broken gene on to you. These situations can get a bit complex, but an experienced breast specialist or genetic counselor can help guide you and your family through the process.

Only 5-10% of breast cancer cases are attributed to a faulty gene, but there are certain subsets of the population who can benefit from genetic testing. In addition to those with a family or personal history of cancer, those of Ashkenazi Jewish descent should be proactive about genetic testing if a family history is present, as should those with relatives who have been diagnosed with triple-negative breast cancers.

IBB: Can you tell us a little more about what these genetic tests look at?
Dr. Heather Richardson: In addition to BRCA 1 and 2, genetic panels can look at up to 80 additional genes. Some people have genes that may be different but they work just fine—these fall into the “variants of uncertainly” (VUS) category. I like to explain VUSs in terms of a blueprint of a car. If the most common paint colors you see on the road are white, black and silver, there’s no reason to believe that deciding to paint the car red would cause it to drive dangerously or be unsafe.

We see VUSs in 20-30% of patients—and these slightly different genetic arrangements do not carry the same weight as a broken BRCA 1 or 2 gene. They are usually harmless in upwards of 98% of patients, but they are worth noting (and tracking) nonetheless. We also have to consider that one company may consider a VUS genetic “mutation” an enhanced breast cancer risk, while another company may not. It’s not an exact science at this point but we are learning more and more every day.

Other people have genes that are different, and as a result they are faulty and don’t work right. These are mutations. If a mutated gene copy tells you (or rather, your cells) to build the car with three wheels instead of four (or prompt cells to replicate improperly), that blueprint will result in an unsafe car that will not operate normally. If you have one of these gene mutations, your doctor will suggest the ideal screening plan, and help you decide if prophylactic surgery or other interventions would be in your best interest.

IBB: Why have my OB/GYN and breast specialist asked about the ages when I got my first period and had my first baby?
Dr. Richardson: The more periods you have over the course of your child-bearing years, the more waves of estrogen your body experiences. In addition, the more cycles you have telling your body to grow breast tissue, the higher the likelihood that DNA replication errors will be made (which can be a cause of breast cancer). This means that women who start their periods earlier may be at an increased risk of breast cancer. Waiting until later in life to have children may be linked to a higher breast cancer risk as well. Think of it this way… A women who has two children before the age of 30 spares her body from roughly 20 menstrual cycles that could impact the health of the breasts, so having more kids at a younger age can play a protective role against cancer.

IBB: Beyond genetics, what other factors play a role in the development of breast cancer?
Dr. Richardson: It’s important to understand that genetics, age of your first period and the age you have your first child are just one part of the picture. It’s a fact that lifestyle and environmental factors play a role in the development of any type of cancer. I’m talking about obesity, sedentary lifestyle, alcohol consumption, smoking and other unhealthy habits. Unlike genetics, these factors are within everyone’s control, and it’s never too late to get on the right path. I want to be clear that no one should ever blame themselves (or their diet or lack of exercise) for being diagnosed with breast cancer. Unfortunately, there are people who do everything right, but still get cancer.

In the meantime, try to stay away from processed foods and sugar, and follow a whole-food, plant-based diet. Lignins (a type of antioxidant found in vegetables, seeds and whole grains) and phytoestrogens (found in soy, seeds, grains, apples, carrots and more) feed your body and keep it healthy to reduce risk. The more you eat “good” foods, the less likely you are to be eating toxic ones. Prioritizing quality sleep and exercise is helpful as well.

IBB: When is a prophylactic mastectomy an option?
Dr. Richardson: If you are BRCA-positive, have a strong family history (even without a gene detected), have multiple relatives who were diagnosed with aggressive breast cancer at a young age, or have been subjected to several biopsies after beginning regular breast cancer screening, it may be worth having a conversation with your breast specialist. Because of gene testing, it can be more difficult to have the procedure covered by insurance if you’re BRCA-negative, but most breast specialists are happy to fight that fight with the insurance company on your behalf—as long as they believe this is an appropriate course of action for you.

IBB: What would you tell the women out there who have been diagnosed with breast cancer, and are waiting for final results or weighing their options?
Dr. Richardson: The “waiting game” is often the worst part of the breast cancer journey—we (as doctors) understand that. Not having knowledge is awful, and not having answers is almost worse than getting bad news because your mind begins to suffer as if the worst has already happened. Once you have answers you can make a plan, but it does take time. In some cases additional screening may be necessary to see if the cancer spread, but if the tumor is small and contained there usually isn’t a need to test the whole body.

Just remember that even the most aggressive cancer grows over weeks and months, not seconds or hours. Breast cancer is not like a heart attack or a stroke. Don’t rush, get the information you need, find out where you are on the spectrum of disease, talk to your doctor about whether drug treatment before surgery or surgery first is best for your unique case, and then make an educated decision about the treatment plan.

IBB: So what does the future have in store for breast cancer treatment?
Dr. Richardson: I look forward to the day when we cure breast cancer, and I hope it happens in my lifetime. When it does, we won’t have to discuss any of these questions anymore. Treatment options are getting better and better, and things change from month to month. Researchers and doctors alike are working to limit toxicity while maintaining effective care. Several new non-toxic drugs show promise, and we are doing whatever we can to focus on cancer cells and leave healthy cells alone.

I always explain to patients that the experience their relative or friend had five years ago may be obsolete today. Many patients can benefit from a single surgery that combines the mastectomy with immediate reconstruction. It’s also possible to retain breast sensation and have minimal scarring. In many cases it’s possible to preserve the nipples, but if not, surgical procedures and/or tattooing can help replicate their appearance, and the results are pretty astonishing.

The main takeaway here is to be proactive and follow the screening and testing protocol recommended by your doctor based on your unique history and risk—because early detection is key for breast cancer survival and optimal outcomes.

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