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Saturday, April 20, 2024

ADVENTIST LA GRANGE MEMORIAL HOSPITAL: Beyond the Mammogram Breast Cancer Genetic Testing

Breast

Adventist La Grange Memorial Hospital issued the following announcement on Sept. 23.

According to the World Health Organization, breast cancer impacts some 2.1 million people per year and led to about 627,000 deaths in 2018 alone. The good news? We know a lot about treating cancer successfully; through early detection, and identifying treatments that will be effective for specific cancers. That’s why it’s so important to stay on top of your breast cancer screening and diagnostic test schedule.

Women ages 50 to 74, at general population risk, should receive a mammogram every other year. Women under 50 may consider scheduling mammograms annually depending on their risk and family history.

The AMITA Health Cancer Institute offers a screening that does more than diagnose breast cancer. Genetic testing for breast cancer can actually predict how likely you are to develop it in the future. By clarifying your risk of certain cancers through Genetic Testing, you are empowered to lower the risk of developing cancer and increase the chance of early detection. This awareness can protect you and your family members over generations.

As the director of genetics at AMITA Health’s Genetics Cancer High-Risk Assessment Program, I can empower my patients to understand their risk, increase the chance for early diagnosis and even lower the chances for developing cancer. Thanks to the genetic tests we perform, our patients can make the best possible health decisions.

In Search of the Breast Cancer Gene

All women have about a 12% chance of developing breast cancer at some point in their lifetime. When a genetic mutation is inherited, that 12% (General Population Risk), can be significantly increased to as high as 87%; depending on the particular gene involved. Two particular gene sequences that can change those odds significantly are, BRCA1 and BRCA2 (short for “BReast CAncer 1 and 2”). When they function normally, they create proteins that suppress tumor growth; but certain malfunctions can have the opposite effect.

About 1 in 1,000 people inherit a damaged copy of BRCA1 or BRCA2 from one of their parents. A woman carrying one of these damaged genes may have a very high chance of developing breast cancer. They can also have a 40-60% chance of developing ovarian cancer. In that situation, a patient might decide to pursue a risk reducing surgery, by removing the breast and/or ovarian tissue to reduce that elevated cancer risk to below the General Population Risk.

Genetic Breast Cancer Tests and You

Before a patient undergoes a genetic risk assessment for breast cancer, they will undergo genetic counseling. The focus of Genetic Counseling is to educate the patient and their family on the process involved in the testing (a simple blood test) and the significance of testing for themselves and their family. First, we track who in the patient’s family has had cancer to produce a multi-generation pedigree. That lets us figure out who in the family would be the most effective to test — it might not be the patient in the waiting room, but her mother, sister, aunt or even uncle. Whoever undergoes the testing should also get pre- and post-counseling to help them understand and process the results.

There are three specific results that can come back from these tests:

Positive Result

This means that a mutation has been identified in one or more of the genes tested. A summary of medical management guidelines to address any increased cancer risk will be provided to the patient and their treating physicians. Patients can review all of their results with a face-to-face education in the offices. Their family can attend, as well.

A positive result doesn’t mean that you do have breast cancer or that you will definitely get it. You’ll want to discuss your next steps with your hereditary cancer specialist to reduce that risk and catch any cancer as early as possible.

Negative Result

A negative test result means that the lab didn’t find a gene mutation associated with higher risk. Of course, not having a damaged copy of BRCA1, BRCA2 or any of the other genes tested isn’t a guarantee that you won’t get cancer, but it means that your risks won’t be elevated above that of the general population.

Variant of Unknown Significance (VUS)

The final and rarest result is a VUS. That means there’s a portion of your genetic sequence that looks different from how it is normally supposed to look. However, researchers have not confirmed if this variant is a harmless change or a risk factor for breast cancer. Over time, these variants are definitively classified as we learn more about them. The highest probability is that they will be determined to be harmless.

Facing a Positive Test

Let’s say your breast cancer genetic screening comes back and you face a positive result. It might not be what you wanted to hear, but it can be good news in the long run. Once you have your risks clarified, you can work out your next steps with your counselor. Those could include management options such as surgery or hormonal manipulation; the counselor might also suggest being monitored more closely for signs of cancerous growths. If you know the risks you face, you can do something about it.

In 2013, Angelina Jolie wrote a moving and thoughtful piece for the New York Times about her decision to have surgery to reduce her chances of breast cancer and ovarian cancer. Because she carried a “faulty” copy of the gene BRCA1, Jolie’s doctors estimated she had an 87% chance of breast cancer and a 50% chance of ovarian cancer — the same disease that killed her mother at age 56. Because she swiftly took action, her risk of developing breast cancer has dropped from nearly 90% to under 5%. Her brave choice to be public with her risk of breast and ovarian cancer helped to draw awareness to the difficult decisions faced by women with a BRCA gene mutation.

Your genetics can reveal more than just cancers of the breast or ovaries. Cancer risk across all major organ systems can be passed on genetically, and the genes that carry those risks can be tested for and managed before anything goes wrong. If you know that a tricky gene runs in your family — or even if you don’t — genetic cancer screening can help you take control of your future before it sneaks up on you.

People who suspect they might be at higher risk of breast cancer should find out for certain with genetic counseling — and every woman should stick to their recommended mammogram schedule.

Original source can be found here.

Source: Adventist La Grange Memorial Hospital

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