Rhonda's Story: Genetic Testing Leads To An Early Diagnosis Of Breast Cancer (Video)
Rhonda McCall always knew cancer ran in her family. Many of her family members had died from different forms of the disease including breast, uterine, prostate, stomach and blood cancers. But she never considered the disease might be wired into her own DNA. After meeting with a genetic counselor at Franciscan Health Cancer Center in Indianapolis, she decided to pursue genetic testing to determine if she had an underlying hereditary cancer predisposition.
What Is Hereditary Cancer?
Hereditary cancer, meaning the cancer in the family is related to an underlying genetic mutation passed down through generations, accounts for up to 10 percent of all cancers. This genetic mutation increases the cancer risk among those who inherit the mutation.
Furthermore, another 20 to 30 percent of all cancer cases are thought to have some kind of genetic component that might not be currently known.
What Is Genetic Testing?
According to the American Cancer Society, genetic testing is the use of medical tests to look for certain mutations in a person's genes.
Predictive genetic testing is the type of testing used to look for inherited gene mutations that might put a person at higher risk of getting certain kinds of cancer. This type of testing might be advised:
- For a person with a strong family history of certain types of cancer, to see if they carry a gene mutation that increases their risk. If they do have an inherited mutation, they might want to have tests to look for cancer early, or even take steps to lower their risk
- For a person already diagnosed with cancer, especially if there are other factors to suggest the cancer might have been caused by an inherited mutation
- For family members of a person known to have an inherited gene mutation that increases cancer risk
"Genetic testing can help identify those who have a hereditary predisposition to developing cancer. With this information, we can make recommendations to help lower future cancer risks," said Morgan Dally, a board-certified genetic counselor at Franciscan Health Cancer Center in Indianapolis. "Most of our recommendations are aimed at early detection and prevention of cancer, such as increased screenings starting at a younger age."
Genetic counseling after testing can help you better understand your test results and treatment options, help you deal with emotional concerns, and refer you to other healthcare providers and advocacy and support groups.
Through this testing, Rhonda discovered she had the BRCA-2 gene, which causes a significantly increased risk for breast and ovarian cancer.
What Is BRCA2?
The National Cancer Institute describes BRCA1 and BRCA2 as human genes that produce tumor suppressor proteins. When either of these genes is mutated, or altered, such that its protein product is not made or does not function correctly, DNA damage may not be repaired properly. As a result, cells are more likely to develop additional genetic alterations that can lead to cancer.
For Rhonda, a breast MRI revealed the beginning stages of breast cancer. She ultimately made the decision to take action by undergoing a double mastectomy and having both ovaries removed.
"My decision to get screened and later take preventive action was the right thing to do," she said. "I encourage anyone who has a family history of cancer or suspects it, to seek genetic testing."