When my sister was 48, she was diagnosed with stage 3 breast cancer and tested positive for the BRCA1 genetic mutation. She learned about the increased risk of breast and ovarian cancer caused by the BRCA1 (and BRCA2), and urged her three sisters to take this genetic test to see if we had the same hereditary marker. I was the first to get tested and — much to my doctor’s surprise — it came back positive. Most women diagnosed with breast cancer do not have an inherent gene mutation. The BRCA1 and BRCA2 genetic mutations are found only in about 5 percent of women with breast cancer. The Centers for Disease Control and Prevention (CDC) states that “the breast cancer 1 (BRCA1) and breast cancer 2 (BRCA2) genes are the genes most commonly affected in hereditary breast and ovarian cancer.”
These genes protect us from certain cancers, but mutations in either of them prevents them from working effectively. Statistics show that women with a BRCA1 mutation have up to a 65 percent chance of developing breast cancer by age 70, and women with a BRCA2 mutation have about a 45 percent risk. I was able to take a simple blood test given by my health care provider. Since these mutations are rare, genetic testing is often recommended for the following family-related situations:
- There is a known BRCA1/2 mutation in your family.
- You had breast cancer at age 50 or younger.
- A woman in your family had breast cancer at age 50 or younger.
- A woman in your family had breast cancer in both breasts.
- A woman in your family had ovarian cancer.
- A man in your family had breast cancer.
- Your family is of Ashkenazi Jewish descent and you or someone in your family had breast cancer.
It’s important to get tested because a positive result will give you the knowledge you need to help prevent not only breast and ovarian cancer, but these genetic markers also have been linked to prostate and pancreatic cancer, and even melanoma. If you test positive for either of these genetic mutations, you should seek counsel from a breast cancer specialist to discuss your preventative medical care. Most recommend the following three options:
- Get more intensive breast cancer screening.
- Take risk-reducing medications, like tamoxifen or raloxifene.
- Have preventive surgery to remove both breasts and/or the ovaries.
If your positive test results are emotionally upsetting to you, please seek support from a mental health care specialist or contact the Susan G. Komen Breast Care Helpline at 877-GO-KOMEN (877-465-6636) or helpline@komen.org for information and support. As for me, I was overwhelmed with the news, but mostly grateful to be given the opportunity to learn of my high risk for cancer and have the option to do something about it. My greatest concern was for my sister, who was in the throes of the battle. In addition to my BRCA1 mutation and my sister’s diagnosis before the age of 50, I had several other factors contributing to my high breast cancer risk. My maternal grandmother passed away from breast cancer, and at 33 I already had found an abnormal growth (atypical hyperplasia) in each of my breasts that were biopsied and tracked on a regular basis through ultrasound.
Thankfully, they both dissolved after I had my first child at 35. My breast cancer surgeon strongly advised me to have a bilateral prophylactic mastectomy to greatly lower my breast cancer risk by 90 percent. Because I was perimenopausal and estrogen stimulates the growth of breast cancers that are estrogen receptor-positive, I also was urged to undergo a total hysterectomy.
After multiple preop appointments, tests and assessments, I ended up having a double mastectomy, breast reconstruction and total hysterectomy with three different surgeons on one fateful morning.
There was some risk of infection involved with having all three surgeries at the same time, and the recovery was agonizingly painful and long. But I knew through it all that this was a temporary suffering for long-term prevention. And to this day, I feel relief in knowing I did all I could to spare myself from what seemed to be the inevitable diagnosis of breast cancer. Because these genes are inherited, family members have a 50 percent chance of sharing the same mutation, which is why my sister urged her three sisters to get tested and why I will have my kids get tested, too. (My son is equally at risk for the same cancers these mutations cause, including male breast cancer.)
On the day of my surgeries, my other sister received her positive test results and ended up having the exact same preventative surgeries with the same surgeons I used. Three out of 4 of us sisters had the BRCA1 mutation. Just last summer, my mother was diagnosed with breast cancer and had a lumpectomy. She didn’t get the genetic test, but it’s likely she has the same genetic mutation. Fortunately, my sister and my mother are both surviving their breast cancer battles. And gratefully, I was given the incredible gift of knowing about these genetic mutations, consequently having three radical surgeries to prevent me from fighting the same battle.
