Cancer Care

Genetic screening helps one family understand inherited cancer risk

One woman’s cancer journey makes prevention a priority for her children, sisters and cousins

Claire deBrun’s cancer journey is not one that she is taking on her own; she is walking it with her family. DeBrun has Lynch syndrome, one of the most common hereditary cancer syndromes that increases a person’s risk for certain cancers and their likelihood of developing multiple cancers in their lifetime.

There are clues to the presence of Lynch syndrome in a family, including cancer diagnoses on one side of the family—especially if the cancers are diagnosed at a young age. DeBrun had the markers: She had uterine cancer at age 50, then an adenoma on her thyroid and some precancerous skin spots that were removed. Her mother had uterine cancer at age 30 and then bladder cancer later. A cousin died of cancer at age 54.

Still, she was unsuspecting until her dermatologist, on a hunch, did some deeper investigation when removing a second benign lesion. She sent the sample for diagnosis, and it came back positive for Lynch syndrome. The dermatologist, Jane Lynch, MD, referred deBrun to Donna Markey, RN, MSN, ACNP-CS. Markey is Augusta Health’s medical oncology and genetics professional.

“While cancer might run in families, only about 10% of all cancers are hereditary [stemming from a gene mutation],” Markey says. People with family histories of cancer have a higher risk of developing cancer than the general population.

After learning of her Lynch syndrome, deBrun met with Markey for a genetic cancer screening. After the blood work, they met to discuss the results. It was important to both of them to speak face to face. Markey laid out all the information, so deBrun could understand her circumstances.

“Donna is a good listener with thoughtful responses,” adds DeBrun. “Still, it hit me hard to find out the cancer was hereditary, and my first thoughts were of my children and grandchildren. It’s one thing to deal with the illness yourself, but an entirely different emotional scenario to think your kids might be impacted, too.”

Throughout the process, deBrun adopted a mantra that one of her children said to her: “You’re OK until you’re not OK. And when you’re not OK, we’ll do something.”

“It’s actually brilliant,” deBrun says, “and it’s how we’ve handled things since that day.”

On Markey’s counseling, deBrun began working with Naheed Velji, MD, at Augusta Health’s Center for Cancer and Blood Disorders. She’s completed multiple screenings and procedures that have become her surveillance program. “I’m so comfortable with everyone I’ve worked with,” deBrun says. “I know that they always put my needs and concerns first.”

Because of her concerns for her family, deBrun appreciates that Invitae, Augusta Health’s partner for genetic testing, provides free family variant testing for her close relatives. Her siblings were tested and were negative. Her cousins have not yet been tested. Her children were tested, and some were positive.

“That’s been the most difficult part with grief and sadness—to realize some of my children have inherited this,” says deBrun. “But my kids have truly been amazing. And Donna has been with me through the serious discussions and a lot of tears. I worry about my kids and my grandchildren, but I’m confident that there will be advances in medicine and immunotherapy for them. I understand how vulnerable I am, but I’m 70 years old, and I’ve had a wonderful life. I choose to be positive. I feel grateful and blessed.”

DeBrun’s faith and family have made the destination worth the trip, she says. Her church community has supported and encouraged her with their consistent prayers, concern and outreach. Her husband, adult children, and their spouses, sisters and friends have been active listeners, kind and helpful in their responses and loving, thoughtful encouragers. God, family, friends and the Augusta Cancer Center medical team, she says, have each walked with her on her journey to acceptance, restoration and peace.

“I’m OK until I’m not OK,” deBrun says.

For more information on cancer genetic screening or to discover if you are a candidate for in-depth genetic cancer testing, contact Donna Markey at the Center for Cancer and Blood Disorders at (540) 332-5960 or dmarkey@augustahealth.com.