In June 2020, during her annual physical with Dr. Danielle Cooper, Patrice Carroll, 61, completed an online cancer risk assessment and received a genetic test kit to determine her hereditary cancer risk.
The risk assessment, along with genetic testing for eligible patients, is offered through CARE ProgramTM, a partnership program between Lake Health and Ambry Genetics®. The CARE ProgramTM makes it easier to identify and manage a person’s hereditary risk for cancer. The program is available to all patients through Lake Health’s Cancer Prevention Center at Perrico Health Center in Willoughby and at many Lake Health Physician Group primary care offices.
“Patrice had cervical cancer at an earlier age, and her mother and two sisters had been treated for breast cancer,” says Dr. Cooper. “Based on her family history and the risk assessment, her cancer risk was high and she was eligible for genetic testing.”
The lab at Lake Ambulatory Care Center in Mentor completed the blood draw for the test kit and sent the sample to Ambry Genetics® for analysis. About two weeks later, Patrice got a call from a genetic specialist at Ambry. She had tested positive for the CHEK2 gene mutation.
“When Christine called with the results, I had my phone on speaker so that my family could hear the conversation and ask questions,” Patrice says. “But she explained everything so well there weren’t any questions to ask. And she was so compassionate!”
The CHEK2 gene
Both the BRCA and CHEK2 genes are tumor suppressor genes. Normally, tumor suppressor genes fight cancer by slowing down cell division, repairing DNA and telling cells when to die. If these genes mutate or don’t work correctly, body cells can grow unchecked and result in cancer. The well-known BRCA gene mutations discovered in 1994-1995 are linked to increased risk for breast and ovarian cancer. The CHEK2 gene mutation discovered in 1999 is linked to increased risk for breast and colorectal cancer.
Everyone carries two CHEK2 genes, one from each parent. Its mutation has been linked to an increased risk of breast (about twice the average risk) and colorectal cancer, as well as other cancers. Children, brothers, sisters and parents of individuals with a CHEK2 mutation have a 50 percent chance of inheriting the gene mutation and having increased cancer risk. So it’s important to tell family members about a positive result and encourage them to get tested. Those positive for CHEK2 mutation should discuss cancer screening and risk management options with their doctor.
Managing cancer risk
Patrice discussed her cancer management options with Dr. Cooper. With her hormone levels reduced due to menopause, they decided to increase Patrice’s breast and colon cancer screenings to be sure to detect any cancer at an early stage. She began having mammograms alternating with MRI breast imaging at six month intervals, along with more frequent colonoscopies.
“Christine told me I needed to tell my children, my siblings and their children about the test results and encourage them to get tested for the CHEK2 gene mutation,” Patrice says.
Some of Patrice’s family members have chosen to get tested while others have chosen not to be tested. Some, including her son and a sister, tested negative. Others have tested positive. Her daughter Nikki was positive for the mutation and, after discussing her options with three different doctors, recently underwent a prophylactic double mastectomy to eliminate any chance of future breast cancer. Pathology showed that Nikki’s right breast was cancer free, but her left breast contained precancerous cells that could have activated at any time. Patrice’s daughter Danielle will have the test in the near future.
“Nikki and I are so happy that we got this genetic testing because, with our positive results, we have a way to fight our cancer risk now versus having cancer later and facing chemotherapy and radiation,” says Patrice. “I only wish more of my family would be willing to be tested so that they can know their risk, act on it and face a more certain future.”
“The CARE programTM offered by the Cancer Prevention Center and Lake Health Physician Group primary care practices is a tool that helps us assess a patient’s risk for hereditary cancers,” says Dr. Cooper. “For those patients who come back with a genetic abnormality increasing their cancer risk, we can monitor them more closely in order to identify cancer at an early stage, and in some cases we can intervene and prevent cancer from occurring. Even better, because Patrice was screened and identified, we were able to identify other at-risk family members to detect and prevent their cancer.”
You should know
Lake Health partnered with Ambry Genetics® to provide genetic testing to eligible patients (those at higher-than-average risk for hereditary cancer). Testing is affordable and accessible for most patients. Four out of five patients pay $0. For those who do pay, the average cost is less than $100.
Currently, genetic testing can identify 34 inherited gene mutations that may increase the risk for breast, ovarian, colon, uterine, gastric, pancreatic, melanoma and prostate cancer.
Meet the doctor
Danielle Cooper, MD
Specialty: family medicine
Office: Mentor, 440-352-4880