What Women and Men Need to Know About BRCA and Cancer Risk

BRCA Gene

Kristal Staker says she always knew deep down she would develop cancer – it was simply a matter of when. Her mother had been diagnosed with advanced ovarian cancer at age 60 and then breast cancer in her latter years. When Kristal’s sister was diagnosed with breast cancer in her early 40s and learned she carried the BRCA1 gene, Kristal decided it was time to face testing herself. 

“It took me too many years, but eventually I was tested, and I am glad I was because I learned I also have the BRCA1 gene. Knowledge is power, and I felt so fortunate to have the opportunity to take steps to reduce the chance that I would develop breast or ovarian cancer,” says Kristal. “I accepted that I needed to have my ‘female parts’ removed – there was no point in denying the fact that I was at a higher risk.”

But then life got in the way. Kristal’s mother was in the late stages of dying. She also met the man who is now her husband. A year later, on Sept. 11, 2018, Kristal had an oophorectomy – surgery to remove her fallopian tubes and ovaries as a preventive measure.

A week later, her gynecologist delivered surprising news: Post-surgery pathology revealed she had fallopian tube cancer. She would need chemotherapy to further reduce the risk for cancer in her abdominal cavity.

“I was stunned, but I also felt very blessed because it was caught so early – when it was contained and treatable, unlike my mother, whose cancer wasn’t diagnosed until it had spread throughout her abdominal cavity. The knowledge felt like a gift,” recalls Kristal.

During this time, Kristal also caught up on her screening mammogram. She was quickly called back for a second mammogram… then a third, and finally a biopsy. She received a second shock: Kristal also had a form of breast cancer not typically associated with the BRCA1 gene. It was the same form of breast cancer her sister had been treated for. She underwent a lumpectomy to remove the breast tumor and will complete 16 rounds of radiation therapy in the fall of 2019. Now, she is encouraging other family members, including her adult children, to have genetic testing so they are empowered with knowledge about their personal risk.

BRCA Genes and Cancer Risk

According to the National Cancer Institute, up to 72% of women who inherit the BRCA1 mutation and 69% of women who inherit the BRCA2 mutation will develop breast cancer by age 80. When it comes to ovarian cancer, 44% of women with the BRCA1 mutation and 17% with the BRCA2 mutation are expected to develop the disease.

“The statistics are alarming, but the good news is that there are preventive steps people can take to reduce lifetime risk,” says Ritu Salani, MD, a gynecologic oncologist with the OSUCCC – James. “What is important is that people with a strong family history of cancer get genetic testing to determine whether they have a known cancer-causing genetic mutation. This is not limited to BRCA, and new generation multi-gene screening technologies have made this testing far more accessible and affordable to patients.”

Salani notes that BRCA mutations also increase both men’s and women’s risk for pancreatic cancer. BRCA2 is associated with breast and prostate cancer in men.

Risk-reducing surgery is recommended before age 35 (BRCA1) or age 45 (BRCA2) or when childbearing is over. Sometimes, these preventive procedures are done even earlier, depending on the extent of cancer within a patient’s family history.

“We are entering a hopeful age of medicine where treatment can be personalized to a genetic mutation – either in inherited genes or a mutation within the specific tumor microenvironment. This allows therapies to be much more effective, potentially improving survival,” adds Salani.

Learn more about genetic testing here, or call 1-800-293-5066.