Moms with BRCA breast cancer gene mutations face tough decisions


When she was just 28 years old, newlywed Kathleen Keenaghan received the call that would change her life.

“As soon as he said my name, I just knew I had it,” Keenaghan, who lives in Poway, Calif., recalled.

“We got your test results in,” her doctor said. “It came back positive and we need you to come in within the next 24 hours.”

Keenaghan had tested positive for the harmful BRCA1 breast cancer gene mutation.

Although her doctor had encouraged her not to get tested before having kids, “I was always of the mindset that knowledge is power,” she said.

Studies show approximately 55 to 65 percent of women with the BRCA1 mutation and 45 percent of those with BRCA2 mutation will develop breast cancer by the time they turn 70.

For Keenaghan, the risk that she would be diagnosed with breast cancer was up to 87 percent, since genetics were not on her side. Keenaghan’s aunt was diagnosed at 31 with breast cancer and died at 35. Keenaghan’s mom had been diagnosed with breast cancer six months before her 60th birthday.

Since Keenaghan and her husband, Darren, were set on having a family, her physician suggested they conceive before she turned 35. In 2011, Keenaghan gave birth to a daughter and the following year to a son.

Shortly thereafter, she received devastating news: Her father had brain cancer. He later passed away.

In 2013, Keenaghan made a life-changing choice: She decided to have a bilateral prophylactic mastectomy to significantly reduce the odds that she would ever battle breast cancer.

“I know I can’t control every cancer, but if I can control one of them I need to,” she recalled telling Darren while her father was in hospice care. “I just don’t want my kids to have to go through this.”

Options for moms with BRCA1 and BRCA

The BRCA1 and BRCA2 breast cancer genes can be inherited by either parent and can increase an individual’s risk for breast and other types of cancer such as prostate and pancreatic cancer. Siblings and children of women who have the genetic mutation have a 50 percent chance of inheriting it as well.

In the general population, between 1 in 400 and 1 in 800 have a mutation, while that number increases to 1 in 40 for those who are in the Ashkenazi Jewish population.

“That number is high enough that even if a woman doesn’t have cancer in her family, she should talk to someone about her risk and the possibility that she might be a carrier” said Dr. Lucy Langer, medical director of the Genetic Risk Evaluation and Testing Program for Compass Oncology, a practice in The US Oncology Network in Portland, Ore.

Women who test positive for the BRCA genes have options when it comes to managing their risk for breast cancer and passing the mutation onto their children.

For those women who plan to get pregnant or have more children, experts recommend alternating an MRI and a mammogram every six months. For women in their 20s, a baseline mammogram and an annual MRI is a good idea, Langer said. Regardless of a woman’s age, monthly breast self-exams and a clinical breast exam twice a year are recommended.

Doctors also recommend screening for ovarian cancer with the CA-125 blood test and a transvaginal ultrasound once a year, along with a pelvic exam. Although the CA-125 and the transvaginal ultrasound have not been shown to be effective in the general population, for women who test positive for the BRCA genetic mutations, “it’s the best thing we can do at the present time other than surgical intervention,” said Dr. Herbert Gretz, a gynecologic oncologist at WESTMED Medical Group in Rye, New York.

For women who want children but haven’t found a partner, are not ready to have children, or do not want more children but aren’t ready for surgery, chemoprevention is an option. Drugs like tamoxifen, raloxifene and exemestane have all been studied and proven to reduce the risk of breast cancer. Although all of the drugs carry side effects, for a woman who has seen family members go through bad cancers, Langer called it an “easy decision.”

Women may opt for bilateral prophylactic mastectomy, as Keenaghan did.  Studies show the procedure can reduce the risk of dying from breast cancer by 56 percent and ovarian cancer by 80 percent.

To reduce the risk of ovarian cancer, the recommendation is to have both the ovaries and fallopian tubes removed at age 35 or when childbearing is complete. A study the Journal of Clinical Oncology found that women with the BRCA1 mutation should have their ovaries removed by age 35 because the risk of developing ovarian cancer seems to increase before or at the time of surgery.

Women who plan to have their ovaries removed but want to have children can opt for egg or embryo preservation. And those who are concerned about passing the genetic mutations onto their children can opt for preimplantation genetic diagnosis (PGD). PGD tests the embryos for BRCA mutations and then selects those that are BRCA intact to be implanted through IVF, Langer said.

Ultimately, each woman’s decision is their own and should always factor in personal and family history and the ages her relatives were diagnosed with cancer, Gretz said.

For Keenaghan, the decision was a no-brainer, she said. In 2014, she underwent reconstruction surgery and plans to have her ovaries removed as well.

Although her journey has not been easy, and one that has included setbacks and a host of emotions, she finds comfort knowing that she was able to control her future on her own terms.

“I have no regrets at all,” Keenaghan said. “Any time I look at my kids, I know I made the right decision.”



Please enter your comment!
Please enter your name here