In 2019, Lisa Minakowski was at a routine OB/GYN checkup when her gynecologist brought up Lisa’s family medical history. Both of Lisa’s paternal grandparents had died at a young age — her grandmother from breast cancer and her grandfather from pancreatic cancer. Her grandfather’s brother also died from pancreatic cancer.
“My doctor had been reading up on cancer and said a genetic link had been found between those two types of cancers,” Lisa says. “He said I should do genetic testing.”
Genetic testing can help determine if an individual has a higher risk for developing cancer due to a hereditary syndrome that gets passed down through DNA. Testing is often recommended when there’s a pattern of certain types of cancer in a family, such as in Lisa’s. The process is simple: A blood test or saliva collection kit is used to gather a DNA sample, which is then analyzed in a lab for the presence or absence of specific inherited gene mutations.
“My doctor offered a blood test right in his office. I’m all for science and technology and thought, ‘Hey, no problem,’” Lisa says.
The ATM Gene Mutation
Lisa’s test results came back, indicating that she had a gene mutation — not the more commonly known BRCA1 or BRCA2 gene mutation, but one she’d never heard of until that moment: the ATM gene mutation. The ATM gene normally helps prevent cancers, but when there’s a mutation, it doesn’t function correctly.
“My doctor suggested I get further advice on what to do about the test results. I talked to a dear friend of mine who’s a physician at Penn Medicine, and he said, ‘Go get genetic counseling. Angela Bradbury is the best.’ So, I made an appointment,” Lisa says.
Angela Bradbury, MD, a medical oncologist with special expertise in high-risk counseling, is part of Penn Medicine’s Mariann and Robert MacDonald Cancer Risk Evaluation Center.
“was the most welcoming, kind person. She said my ATM gene mutation increases my chance for breast and pancreatic cancer,” Lisa says.
To address her elevated risk for breast cancer, Dr. Bradbury recommended that Lisa follow up her annual screening mammogram with a yearly breast MRI (magnetic resonance imaging). She would also need to see a gastroenterologist to manage her risk for pancreatic cancer. Lisa already had a trusted GI doctor at Penn Medicine, and she made him aware of her ATM gene mutation.
Breast MRI Reveals an Unexpected Diagnosis
Lisa had a mammogram, which showed no signs of cancer.
“The radiologist raved at how clear the picture was. I went home feeling great,” she recalls.
Following Dr. Bradbury’s advice, Lisa next scheduled a breast MRI. Recent studies have found that screening with MRI in addition to mammography can help with early detection of small cancers that may not show on a mammogram — especially in patients like Lisa with dense breast tissue.
“In July 2019, I had my MRI and got a call telling me there were five masses in my right breast and I needed a needle biopsy,” Lisa says. “I asked my doctor which breast surgeon to see for the biopsy and he recommended Dr. Julia Tchou, who I absolutely loved.”
Dr. Tchou, a Penn Medicine breast surgeon, performed Lisa’s biopsy and later called to give her the results. It was cancer.
“I didn't have ductal breast cancer, but invasive lobular carcinoma, the second most common form of breast cancer,” Lisa says.
Double Mastectomy and Breast Reconstruction
Even though the masses were in Lisa’s right breast only, there was a high likelihood of additional tumors showing up in her left breast, so she and Dr. Tchou agreed on a double mastectomy.
Lisa was a stay-at-home mom until her two kids went to college. Recently, she’d begun acting and modeling professionally and was gaining success with appearances on billboards, print, commercial film, and even QVC.
“I was 52 then and in very good shape, very healthy. I worked out a lot. So, when this hit, it was a much larger gut-punch because I earned a living based on how I looked,” Lisa says.
She adds, “But I went into treatment with the attitude that I’m going to live for my kids.”
Lisa consulted with her doctors and opted for breast reconstructive surgery. Two weeks after her diagnosis, Lisa had both breasts removed. Dr. Tchou used nipple-sparing surgical techniques to perform the double mastectomy. Then Joseph Serletti, MD, did a DIEP flap reconstruction using fat and blood vessels from Lisa’s lower abdomen to rebuild both breasts.
After 12 hours of surgery and a week in the hospital, Lisa went home with 4 drains in her chest and 2 drains in her abdomen. She received daily care at home nurse visits from Penn Medicine nurses who stripped the drains. As her strength grew, she received physical therapy for lymphedema and posture. Her lymph nodes tested positive for cancer, so once she recovered from surgery and had the last drain removed, Lisa started chemotherapy infusions to remove any traces of cancerous cells.
“That was in November 2019. When I finished in early 2020, all hell broke loose and the COVID pandemic hit,” she says.
Lisa’s cancer was positive for both estrogen and progesterone receptors (ER/PR+), and HER2 negative. About two out of every three breast cancers have at least one type of hormone receptor — proteins found on breast cells that respond to signals from hormones and fuel cancer cell growth.
To reduce the risk of a recurrence, Lisa’s doctor prescribed injections of Lupron, a drug that would stop her ovaries from producing estrogen. Unfortunately, it was the height of the pandemic shutdown and global supply-chain problems prevented Lisa from getting the drug.
“Instead, I had to have a total hysterectomy,” Lisa says.
GI Screenings: Knowledge is Power
Lisa has a colonoscopy every five years due to polyps on prior colonoscopies. In addition, because of her higher risk for pancreatic cancer, she has an annual upper endoscopic ultrasound to look for pancreatic tumors. Lisa is also enrolled in two studies at Penn to find less invasive testing methods for people with her gene mutation.
“Each year they take some blood as part of that research study,” she says.
Lisa continues to check in with Dr. Bradbury each year and says that when the time is right, she’ll send her daughter and son to her for genetic testing and counseling.
“They’re in their twenties now and Dr. Bradbury doesn't recommend testing yet, because if they have the mutation, it creates a lot of worry about cancer that’s unlikely to show up that early,” Lisa says.
Lisa having the ATM mutation means her parents, siblings, and kids have a 50% chance of having it, too. After Lisa learned her test results, her father and brother got tested as well. One had the mutation, the other didn’t.
“It took me a long time to be able to talk about my experience. It took my breath away. Mentally, it’s hard sometimes, but I try to keep calm, exercise, and stay healthy. My providers at Penn are always there for me. They reply when I have questions and make time to see me if I need to come in,” Lisa says.
She adds, “If I hadn’t gotten genetic testing and counseling, I wouldn’t be here today. I had a growing cancer with no symptoms and the mammogram wasn’t picking it up. It was Dr. Bradbury who said we’re going to do additional imaging every year, and that imaging saved my life.”