Author: Leslie Toldo
Sara Allen suspected she had gallstones, but no amount of pain was going to keep her from her nephew’s wrestling match.
“It was an important match,” Sara said. “I don’t have kids, so my nieces and nephews are my life.”
As soon as the match was over, Sara headed straight to the emergency room. The 42-year-old soon learned the source of her pain was ovarian cancer. Sara’s loving family immediately rallied around her.
“My sister was my keeper. She did all the research for me, so I didn’t go down the rabbit hole of looking stuff up online,” Sara said.
Not long after her diagnosis, Sara’s oncologist at Karmanos Cancer Institute at McLaren Flint suggested she have genetic testing.
“Dr. Orimisan Samuel Adekolujo ordered genetic testing within my first two visits,” Sara said. “I wanted to know if it was something genetic because that could affect my family members.”
Sara’s test revealed she has a mutation in her RAD51C gene. That gene is primarily associated with an increased risk for breast and ovarian cancers. She was then referred to the Cancer Genetic Counseling Service at the Karmanos Cancer Institute, where she met with genetic counselor Ashley Cosenza, MS, LCGC to discuss the implications of these results for herself and her family.
“It was suggested my family members be tested for the mutation as well, so that if they had it, they could take precautions,” Sara said.
RAD51C mutations are inherited in an autosomal dominant fashion, meaning each of Sara’s siblings and parents has a 50 percent chance of carrying the same mutation. Sara’s mother Lauretta was one of the first relatives to get tested.
“I figured I should get it done. I wasn’t afraid. I wanted to know,” Lauretta said. “I had the mutation, which means I passed it on to Sara and possibly to my other children,” Lauretta said. “When I got the results, I elected to have a full hysterectomy just so I wouldn’t develop ovarian cancer later on.”
Before Lauretta or any of her children or other relatives could be tested, they had to have genetic counseling.
“As a genetic counselor, I review the patient’s personal and family history to determine which testing is appropriate, provide patients with information about hereditary cancers and walk them through the testing process. Once results are in, I then review those with the patient to ensure they understand how they impact their cancer risk and discuss appropriate strategies to manage those risks moving forward,” said Ashley.
People with RAD51C mutations and other hereditary cancers have a 50 percent chance of passing those mutations on to each of their children. Because of this, it is important for men and women to know their mutation status. Many of these genes are also linked to multiple cancer risks that may affect both men and women.
“Even in genes historically thought of as breast cancer genes, we now know that many of them are associated with other cancers as well that can impact both men and women,” said Ashley.
Now they know about the mutation, Sara and Lauretta have made some changes to their health routines.
“My mother and I both alternate getting a mammogram or a breast MRI every six months,” Sara said. “It’s better to find out at an early stage. Why wouldn’t you want to find it sooner? The treatments are a lot less intense.”
Sara had a full hysterectomy along with chemotherapy. While her treatments are over, she goes in for maintenance infusions every three weeks. And her family, especially her mother, are a continued source of strength.
“She’s my best friend. I call and check on her every day,” Sara said.
Throughout her fight, Sara has been there to cheer on her nieces and nephews. She’s grateful to have more time to enjoy them and the rest of her family.
Not all cancer genetic testing panels are the same, and a genetic counselor can help determine the appropriate test for each patient. You may be a candidate for genetic counseling if you have:
- Several relatives with the same or related cancers (i.e. multiple relatives with breast cancer, or colon and uterine cancers on the same side of the family)
- A personal or family history of rare or unusual cancers, such as ovarian cancer, male breast cancer or pancreatic cancer
- A relative with more than one type of cancer.
- A personal or family history of cancer under age 50.
- A relative who has tested positive for a cancer gene mutation.
For more information about genetic counseling visit mclaren.org/flintcancer or call Jill Muraske, RN, BSN, oncology nurse navigator at 810-342-3854.