Hereditary Breast Cancer: A Personal Perspective on the BRCA Gene Mutation

Special to the Post-Register; published by the Lockhart on Thursday, October 10, 2013

“You have breast cancer.” Nothing prepares you to hear those words and yet, on February 28, 2013, I listened with disbelief as my surgeon spoke four small words that would change my life forever. Unfortunately, the hard news didn’t stop with those words. Not only did I have cancer, but I had a very rare – and aggressive – form of breast cancer, triple negative breast cancer, which was almost always hereditary.

Despite multiple mammograms, ultrasounds and biopsies, until the moment I heard those four words, the concept that I might actually have breast cancer was inconceivable. I simply couldn’t believe or accept that the lump would be anything other than benign. Eighty percent of all breast biopsies are negative for cancer so the odds were in my favor. I wasn’t worried. To say the diagnosis was shocking would be an understatement – it was devastating. But, the diagnosis that I had triple negative breast cancer, a hereditary form of breast cancer was frankly confusing. After all, my mother and her sisters didn’t have breast cancer. Neither of my grandmothers had breast cancer. As far as I knew, there was no history of breast cancer in my family so how could I possibly have such a “bad” form of hereditary breast cancer?

My immediate concern after the initial diagnosis was what it meant for the other women in my family – my sister, my daughter, my granddaughters and my nieces. Triple negative breast cancer generally has a very poor prognosis and I was terrified for the rest of the “girls” in the family. Were they at risk? Would they also develop breast cancer? More importantly, where had this come from and how could we stop it? I love each of these women and it became a mission to determine how to protect them from becoming a Pink Ribbon Sister.

With no apparent genetic history of familial breast cancer, my doctors and I embarked on a genetic forensic hunt to get to the bottom of the mystery. The results were startling. A closer investigation of my family history revealed multiple instances of breast cancer – eight cases in all – which I’d previously known nothing about. Based on this new information, I elected to undergo genetic testing which confirmed the oncologist’s initial suspicions. I tested positive for the breast cancer gene 1, or BRCA 1, gene mutation. The BRCA1 gene mutation is a hereditary cancer gene mutation known to cause an increased risk in breast cancer and ovarian cancer.

Hereditary cancer gene mutations are passed from parent to child. If one parent has the BRCA1 or BRCA2 gene mutation, then each of their children has a 50 percent chance of inheriting the same gene mutation. Men can inherit the gene mutation as well as women and can pass the gene mutation on to their children. The presence of the BRCA1 or BRCA2 gene mutation does not mean that you will develop breast cancer but it does mean that you have a higher than normal risk of developing breast and certain other cancers during your lifetime. Often, these cancers develop at much younger ages than the general population. It’s not uncommon to see breast and ovarian cancer in persons younger than 50 years who have the BRCA1 or BRCA2 gene mutation.

According to the American Cancer Society, hereditary breast cancer accounts for 5 to 10 percent of all cases of breast cancer. While there are several types of hereditary gene mutations linked to an increased risk of breast cancer (such as ATM, TP53, CHEK2, PTEN, CDH1, and STK11 gene mutations), the most common cause of hereditary breast cancer are the BRCA1 and BRCA2 gene mutations. While the BRCA1/BRCA2 gene mutation is most common in persons of Ashkenazi – Eastern Europe – Jewish, Icelandic, Norwegian, Dutch, or Swedish descent, persons of any race or ethnicity may possess the gene mutation.

The BRCA1 and BRCA2 genes normally function to prevent cancer from developing by creating a protein that inhibits abnormal tumor cell growth cell. However, when a gene mutation occurs, this natural protection is lost resulting in a higher than normal risk of developing breast, ovarian, and other cancers. According to the National Cancer Institute, approximately 12 percent of women will develop breast cancer during their lifetime. In comparison, the rate of breast cancer in persons with a BRCA1/BRCA 2 gene mutation is much higher than the general population. Persons with the BRCA2 gene mutation have approximately a 45 percent chance of developing breast while persons with the BRCA1 gene mutation have a 55 – 65 percent chance of developing breast cancer. According to the American Cancer Society, the risk of breast cancer for those with the BRCA1 gene mutation may be as high as 80 percent depending on family history.

In addition to breast cancer, persons with the BRCA1/BRCA2 gene mutation are also at increased risk of ovarian cancer. Thirty-nine percent of women with the BRCA1 gene mutation develop ovarian cancer and 17 percent of BRCA2 positive women can expect to develop ovarian cancer before the age of 70 years. In comparison, only 1.4 percent of women in the general population develop ovarian cancer. The BRCA1 gene mutation also carries an increased risk of fallopian tube cancer and peritoneal cancer while the BRCA2 gene mutation causes an increased risk of cancers such as melanoma and stomach cancer. Men are not immune from the effects of the BRCA1/BRCA2 gene mutation. Men who carry the BRCA1 or BRCA2 gene mutation are at an increased risk of male breast cancer and prostate cancer. Both the BRCA1 and BRCA2 gene mutation carry an increased risk of pancreatic cancer.

Because I had already received a diagnosis of breast cancer, the decision to undergo genetic testing for the BRCA1/BRCA2 gene mutation was easy. I hoped that by knowing my BRCA status, other members of my family would be able to protect their health and avoid a future journey with cancer. However, the decision, particularly for persons who are healthy and cancer free, can be very difficult. The thought that you may be at a significantly increased risk of cancer can be scary and frankly, downright overwhelming. A genetic counselor can help you work through whether or not genetic testing is right for you and if so, what the results mean to you and your children, as well as the physical and psychological benefits and risks in determining your BRCA status.

From a purely personal perspective, knowing my BRCA status was important to put together a future treatment plan. Because I already have hereditary breast cancer, the likelihood of developing the same type of breast cancer in my “good” breast was approximately 90 percent and the risk of ovarian cancer about 70 percent. After evaluating the options, I elected to have a double-mastectomy to not only lessen the risk of reoccurrence in the “bad” breast but prevent a second cancer from forming in the good breast. I’m also planning to have my ovaries removed to avoid the possibility of developing ovarian cancer in the future. Knowing my BRCA status made these decisions easy.

For a person who is currently cancer free, knowing that you are BRCA1 or BRCA2 positive can help you develop a lifelong plan to manage and lessen your risk of developing breast or ovarian cancer. Physicians currently have numerous tools available to manage such risks including enhanced screening, chemoprevention, and prophylactic surgery.

• Enhanced screening: It’s generally recommended that women who are BRCA1 or BRCA2 positive undergo more frequent screenings for breast and ovarian cancer and that screenings begin at an earlier age than is recommended for women in the general population. The National Cancer Institute recommends mammograms and screenings in BRCA1/BRCA2 positive women begin as early as age 25. Other screenings, such as a breast MRI, may be recommended as well. There are no effective screenings for early detection of ovarian cancer but regular exams, blood tests and transvaginal ultrasounds may be recommended. Since there are other cancers associated with the BRCA gene mutations, your physical may recommend regular screenings for those cancers as well.

• Chemoprevention: Chemoprevention is a term applied to the use of certain agents used to prevent a cancer recurrence or to reduce the risk of developing a primary cancer. Chemoprevention may include substances such as vitamins as well as approved chemoprevention drugs. Currently, there are two chemoprevention drugs approved by the Food and Drug Administration (FDA) for the prevention of breast cancer: Tamoxifen and Raloxifene. Tamoxifen may reduce the risk of developing breast cancer in BRCA1/BRCA2 positive women. There is no separate research on the effectiveness of Raloxifene in reducing the risk of breast cancer in BRCA positive women. Birth control pills may lessen the risk of developing ovarian cancer.

• Prophylactic surgery: Angelina Jolie recently made headline news when she revealed that she underwent a prophylactic, or preventative, mastectomy to reduce her risk of developing breast cancer. Angelina Jolie lost her mother to ovarian cancer and recently lost an aunt to breast cancer. Jolie is also BRCA1 positive. Surgical removal of the breast and ovaries significantly reduces the overall risk of breast and ovarian cancer in women. There is currently no evidence on the effectiveness of prophylactic mastectomy in preventing male breast cancer in BRCA positive men.

As I write this article, my family is still processing what the BRCA1 gene mutation diagnosis means to them. One sibling has already tested positive for the BRCA1 gene mutation and is evaluating options to lessen the risk of developing BRCA related cancers. Other siblings are waiting on their test results. The diagnosis of hereditary breast cancer didn’t just happen to me – it happened to my whole family. Each of my siblings has a 50 percent chance of carrying the BRCA1 gene mutation as does my daughter. We were caught with our genetic pants down. We thought we knew our family history only to find a genetic skeleton hidden in the closet.

Benjamin Franklin is credited as saying “An ounce of prevention is worth a pound of cure.” In the case of hereditary breast cancer, this is certainly more than true. The “cure” has been a long, hard fought journey. I’ve had 22 weeks of chemo and twice nearly died when chemo took my white blood count to zero leaving me unable to fight any infection. Those were scary hospital stays. I just underwent a double-mastectomy and reconstruction surgery and still have at least more surgery ahead to complete reconstruction as well as more surgery to remove the remaining ovary. In all likelihood, I’ll also face 6-8 weeks of daily radiation. I’m still waiting on the decision from my doctor on whether or not radiation is required.

Despite that, I’ve been lucky – and blest. Unlike many hereditary breast cancers, we caught it early before it spread. The last pathology report indicates no evidence of disease in the sentinel node or lymph glands and no cancer cells present in the breast tissue removed during the mastectomy. This is truly wonderful, miraculous news. Not everyone is so fortunate and blest. If you’re at risk for hereditary breast and ovarian cancer, discuss your concerns with your physician or a genetic counselor to determine if genetic testing is right for you. The knowledge gained by knowing your BRCA status

Mary Kyle is a musician, health advocate, and freelance writer who makes her home in Lockhart, Texas. She was diagnosed with Triple Negative Breast Cancer in February, 2013. To read more about her journey with breast cancer, visit

© 2013. Mary Kyle.

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