"Would you want to know?" by Beth Rodgers (Bella Magazine, Oct 2014)

bethrodgbella
Oct 5, 2014
5 min read

http://www.pnj.com/story/life/style/bella/2014/09/23/would-you-want-to-know-with-the-breast-cancer-knowledge-is-power/16115419/

This is the TEXT of the first article I wrote for Bella (October 2014). I was inspired to research and write this for my daughter, Abigail (photo). This article is also listed under the ARTICLES page (as a pdf document).

"My sister is fighting breast cancer and she has been tested … but if I don't think about it, it will go away, right?"

— Pamela Meadows

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"I am BRCA-2 positive. My sister was frantic to know the results of my test but then decided against being tested for fear of what her insurance company would do to her." — Lynda Jewett

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"I had a lumpectomy, and I am fine. But I'm adopted. Without family history, yes, I would like to be tested." — Julie Davis

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"My friend has the gene and fought breast cancer … her mother died of it, and her niece also has the gene.'' — Addie Logan Taylor

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"BRCA saved my life."— Frances Yeo

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These heartfelt responses and more flooded my inbox in reply to a simple inquiry: "Would you want to know?"

Ignorance may be bliss, but if you could have a better picture of your risk for breast cancer, wouldn't you want to know?

Knowledge is power, but is uncovering your own genetic profile knowledge you desire? Diet and exercise can be controlled; your genetic makeup cannot. If you carry a genetic risk for breast cancer, do you want to know?

In 1990, researchers uncovered a gene that produces tumor suppressor proteins and named it BRCA. The proteins produced by BRCA repair damaged DNA to keep our cell's genetic material stable.

According to the National Cancer Institute at the National Institutes of Health, if the BRCA gene mutates, important repair-proteins are not produced, rendering cells more likely to develop "genetic alterations" leading to cancers of the breast and ovaries.

Only 12 percent of women will develop breast cancer in their lifetimes, and not everyone who has breast cancer has the BRCA gene.

But NIH statistics predict that 55 percent of those who do carry the BRCA1 gene or 45 percent of those who carry the BRCA2 gene (discovered in 1994) will develop breast cancer by the age of 70.

Although BRCA1 and BRCA2 gene mutations are rare — somewhere between one in 400 and one in 800, according to the Susan G. Komen Foundation — the mutation can be inherited from your mother or your father, meaning every child of a parent with the gene has a 50 percent chance of inheriting that particular mutation.

What complicates matters is not everyone with the mutated gene will develop cancer, so a parent can be a carrier with no outward evidence of cancer in his or her lifetime.

While the presence or absence of the BRCA1 or BRCA2 gene gives physicians a clearer picture of a patient's profile, it is only once piece of the puzzle.

WEIGHING YOUR OPTIONS

Pensacola surgeon Dr. M. Jane Benson recommends patients for testing and genetic counseling who have an early cancer (younger than the average breast cancer patient, who is 55 years old) as well as multiple close family members within two generations with a history of ovarian or breast cancer.

The BRCA test, a simple blood test that requires a doctor's order, costs about $3,000 and may not be covered by a patient's insurance, according to Breastcancer.org.

Pensacola surgeon Dr. Nicholas Sholty reminds his patients that, "BRCA is not a simple test with simple results. If you take a pregnancy test and the results are positive, you are pregnant. If you take an HIV test and the test is negative, you are negative. But if you have a BRCA test with a positive result, you are positive for the gene, and that is all. You are not guaranteed to get cancer, and if your BRCA is negative, you still may get cancer. It's not black and white."

In fact, in a recent study at the National Human Genome Research Institute (NIH) half of the women with a positive BRCA never developed cancer. When researchers mapped the isolated gene, they identified over 100 different "alterations" scattered over the gene, each creating variables in the mutations and possible cancers.

As important as a patient's decision to pursue genetic screening, says Dr. Sholty, is another matter: "Who is reading the test results, and how do the results impact the physician who is crafting a treatment plan?"

Some BRCA positive patients, according to the National Cancer Institute, choose to begin clinical breast exams, mammograms, or ultrasounds as early as age 25. A patient's choice of contraception or the timing of child-bearing may also be impacted.

'WOULD YOU WANT TO KNOW?'

Most women answering this inquiry cited the changes they would make in diet and exercise if they knew they were positive.

The Mayo Clinic recognizes the positive and negative aspects of testing this way: A positive test can bring a sense of relief and empower a patient once a battle plan is formulated in consultation with a physician.

In some patients, though, a positive test brings anxiety, sadness, or a feeling of inevitability. Some patients are concerned with insurance or employment discrimination. Some experience strife with family over the inheritance of this genetic mutation.

Conversely, a negative test can bring a sense of relief followed by "survivor guilt," especially when other family members test positive or are diagnosed with cancer. A negative test can provide a false sense of comfort, leading individuals to ignore other healthy changes that may be advisable. Ultimately, there are social and psychological consequences to knowing the results of a BRCA test that must be considered.

The biggest decision to be made by a BRCA positive woman is whether or not to pursue prophylactic surgery, the pre-emptive removal of the breasts and ovaries.

While the removal of breasts seems like a radical step to take — one Angelina Jolie wrote about in her New York Times article "My Medical Choice" (May 14, 2013) — patients who underwent this elective surgery experienced a 50 percent to 80 percent reduction in their risk for dying from breast cancer.

Reconstructive surgery following the removal of breast tissue can produce results that are "quite remarkable," according to www.facingourrisk.org ("Facing Our Risk of Cancer Empowered"), whose website boasts a gallery of post-reconstruction images.

The truth is only 5 percent of breast cancers and 10 percent to 15 percent of ovarian cancers are linked to a BRCA gene mutation, according to the Mayo Clinic, but knowing you carry the gene assists you and your doctors in creating a strategy for treatment.

BRCA SAVED MY LIFE'

Frances Yeo, Coordinator of Recreation and Leisure at Pensacola State College, shared her story.

In 2004, she was diagnosed with cancer in her left breast, then three years later, her right. Since her family had a history of cancer, her surgeon suggested the BRCA test. When the test came back positive, doctors recommended a double mastectomy as well as removal of the ovaries.

One ovary had "a quarter inch tumor, which was malignant. I had no symptoms," says Yeo, who reminds us that with ovarian cancer, "There are no warning signs ... until it is too late to do much."

Without her doctors acting on the BRCA test results, that ovary would have remained undiscovered.

"Sticking your head in the sand with the idea, 'If I ignore it, it will go away,' is NOT the best option,'' Yeo says.

BRCA gave her choices for treatment, a treatment she credits with saving her life.

FAMILY HEALTH HISTORY

"Would you want to know?" I asked my daughter, a 20-year-old college student and aspiring ballerina.

Her grandmother, my husband's mom, was diagnosed at 52 and died of breast cancer eight years before my daughter was born.

Could my husband be a carrier? Might my daughter be affected? With only one family member in her health history, she is not a candidate for testing.

I asked anyway. "Would you want to know?"

Her response was immediate: "Absolutely yes."