GREENSBORO, N.C. -- Lori Willis has her final reconstructive surgery this December. It’s the final phase in a long process and extensive surgeries that stemmed from a simple genetic testing blood sample in 2015.
Willis was referred by her gynecologist to seek genetic testing based on her extensive family history with multiple types of cancers.
“I was really nervous originally because I thought, 'I don't know if I want to know. I know I’m at risk.' But when she encouraged me she said that if they did find the mutation, my insurance would pay for other screenings that I wouldn't normally be able to get and just all the doctors would be much more vigilant,” Willis said.
Willis tested positive for CHEK2.
Karen Powell, with Cone Health, described the genetic mutation to increase cancer risks moderately compared to the more common mutations BRCA1 and BRCA2.
“A CHEK2 mutation can increase the risk maybe two to four fold so that means the risk ranges somewhere between 25-50 percent life risk,” Powell said. “Based on literature, and then our experiences as well, indicates that there is an increased risk for both breast cancer and colon cancer and some families we do see other cancers including prostate cancer.”
Powell was Willis’ genetic counselor following her results. Genetic counselors at Cone Health advise patients of their risk, management, options as well as support.
“The benefit of having this information is that it can change your medical management so that we can either prevent a cancer from happening, catch it early when its more treatable,” Powell said. “It also allows other family members to undergo testing and then screening for them as well.”
Further screening with a 3D mammogram, ultrasound then MRI led to the diagnosis of breast cancer for Willis in its earliest form.
“It was stage zero, noninvasive, still in the duct, very small only showed up on the MRI,” Willis said.
Based on a high risk of cancer re-occurrence, Willis decided to get a double mastectomy and reconstruction surgeries.
“Genetic testing probably saved my life. If it didn't I know it probably saved me from having chemo and radiation,” Willis said.
She relied heavily on her family, friends and church members as well as her faith. While her decision for surgery was personal, she encourages every family to have a serious talk about their medical family history and consider genetic testing for security and quality of life.
Many of Willis’ family members and children also had genetic testing.