A Family History of Cancer: How Genetic Testing and Coordinated Care Saved Gail Cooper's Life

At age 4, Gail Cooper tragically lost her mother to breast cancer. Her maternal grandfather died of stomach cancer, while her maternal grandmother had very early-stage breast cancer later in life. So, while she generally enjoyed good health, Gail always worried she would develop cancer one day. Her fear came true when she was diagnosed with ductal carcinoma in situ (DCIS) breast cancer at age 68.

DCIS is a very early form of breast cancer that is usually curable. However, Gail's diagnosis set off a chain of events that led to the discovery of ovarian cancer and much more extensive treatment than she could have anticipated.

Her compassionate, coordinated care team at Mass General Brigham Cancer Institute helped save her life.

"There are no words to express my gratitude because I wouldn't be here without them," said Gail, now 70. "I'm truly, truly fortunate."

Mammogram detects abnormality in breast

Gail, a resident of Beverly, Massachusetts, is married with two adult children and two grandchildren. She stays active hiking with her husband, Steve, and playing pickleball.

After a mammogram detected an abnormality in Gail's left breast, a biopsy (examination of tissue removed from the body) revealed she had DCIS breast cancer. On the recommendation of friends, she scheduled a visit with Michele Gadd, MD, a surgical oncologist at Mass General Brigham Cancer Institute.

"I refer to DCIS as 'stage 0 breast cancer,'" Dr. Gadd said. "It's contained within the milk ducts, so as long as we remove it in a timely manner, it won't spread anywhere."

The initial plan called for Dr. Gadd to conduct a lumpectomy (surgical removal of the growth). But due to her family history of cancer, Gail would first need to have genetic testing to find out if she was in danger of developing any other cancers.

The tests showed she had a mutation in the BRCA2 gene. In women, this increases the risk of getting breast, ovarian, and other cancers. Suddenly, her treatment plan became much more complicated.

Preventative surgery recommended

After reviewing the genetic testing results, Dr. Gadd referred Gail to Varvara Mazina, MD, a gynecologic oncologist at Mass General Brigham Cancer Institute. According to Dr. Mazina, testing positive for the BRCA2 mutation put Gail at about a 17% lifetime risk of developing ovarian cancer.

"For those patients, we recommend a risk-reducing removal of the fallopian tubes and ovaries because that's the only way to prevent ovarian cancer," Dr. Mazina said.

Gail understood that reasoning and agreed to proceed with the surgery. Drs. Mazina and Gadd worked closely together to identify a mutually agreeable date on which the two surgeries could take place, one after the other. Dr. Mazina went first, removing the tubes and ovaries laparoscopically (a video-guided procedure requiring only a few small incisions). Then Dr. Gadd performed the lumpectomy.

The entire process took about two-and-a-half hours, and Gail went home the same day. "I was up walking around almost right away. I was very lucky not to have any issues," she said. "I barely needed any pain medications."

But Gail wasn't in the clear yet. The ovaries and tubes removed during the surgery looked normal to the naked eye. However, a pathology analysis found microscopic cancer in one tube and one ovary along with cancerous cells in the pelvic washings taken at the start of the surgery. Results showed Gail had stage 2 ovarian cancer.

"That diagnosis was a shock. I really went into some dark places," she said. "But Dr. Mazina was so wonderful. I felt at ease confiding anything to her. She was there for me."

Early diagnosis makes all the difference

While the diagnosis of ovarian cancer was scary, there was a bright side: Since it was only stage 2, Gail had an excellent chance of successful treatment.

Genetic testing is what made such a favorable outcome possible. If the BRCA2 mutation had not been found, she would not have had risk-reducing surgery to remove her tubes and ovaries. As a result, her ovarian cancer likely would not have been detected until it had reached a more advanced stage. "I am so thankful that I had genetic testing," she said. "It saved my life — 100%."

Gail then had six cycles of chemotherapy under the watch of Dr. Mazina. Other than hair loss, she tolerated the treatment well.

Next, Dr. Mazina conducted "completion surgery" to remove Gail's uterus and omentum (a piece of abdominal tissue). Ovarian cancer sometimes travels to these two locations. Fortunately, in Gail's case, it had not.

A few weeks later, Gail began seeing Douglas Micalizzi, MD, PhD, a medical oncologist at Mass General Brigham Cancer Institute and clinical director of the Cancer Early Detection and Diagnostics Clinic. Dr. Micalizzi makes sure Gail is continuing to receive appropriate screening for not only breast and ovarian cancer but also pancreatic cancer and melanoma (skin cancer). Since Gail's son, Brent, also tested positive for the BRCA2 mutation, he is screened for several cancers as well.

'A deep sense of gratitude'

Over a year out from the completion surgery, Gail is feeling great. In addition to getting back to pickleball, she has embraced a more laidback approach to life.

"It's like you hear people say: I appreciate things more, and I don't let the little things bother me," she said. "I just have a deep sense of gratitude."

Gail will continue to see Dr. Mazina, who will watch for any signs of a return of ovarian cancer. She will also see Dr. Gadd for annual mammograms and magnetic resonance imaging (MRI) scans.

"I used to get nervous around doctors. But thanks to my wonderful doctors at Mass General Brigham Cancer Institute, I no longer have that fear," Gail said. "Between their compassion and their expertise, I can't say enough great things about them."