CHEK2 Genetic Mutation and Breast Cancer

Cancer comes in many forms. Some people may be familiar with the breast cancer susceptibility (BRCA) gene mutations, but what about checkpoint kinase 2 (CHEK2)?

Carolynn Carey is a 54-year-old sister, mother and grandmother from Middle River who is also a breast cancer survivor. Just like any other woman, she started to get her yearly mammogram at age 40.

“It starts at 42, when I had a mammogram done, and they found a tumor, and they first thought it was like stage II. Let’s just have surgery and we’ll decide there how far we go with treatments. And, after surgery, I came out stage III, so it spread to my lymph nodes," Carey said.

She knew she had breast cancer but didn’t yet know that it was related to the CHEK2 gene mutation.

“I think, basically, when everything calmed down and I was in a better space, my doctor was like, ‘OK, let’s do another extensive genetic paneling.’ And then, that’s when the CHEK2 gene mutation came up,” Carey said.

Carey said therapy has been so important for her during this process.

According to Katharine Bisordi, a genetic counselor at Mercy Medical Center in Baltimore, not everyone with CHEK2 will have the same story.

“You can absolutely have one of these gene mutations and never develop any cancer,” Bisordi said.

Bisordi said a person’s chance of developing breast cancer—without a family history or any other special circumstance—is about 12%. The BRCA gene causes about a 55% to 72% lifetime risk of developing breast cancer.

CHEK2 is considered a moderate-risk breast cancer gene; a carrier has about a 23% to 27% chance of being diagnosed.

Carey said her sister tested positive for CHEK2 but has experienced no issues. Carey’s daughter tested negative for CHEK2.

“These gene mutations have to be passed on directly from generation to generation, so they can’t skip overage and generation, they have to be directly passed on,” Bisordi said.

Carey said she’s relieved knowing that her daughter and young grandson are most likely in the clear. Carey now goes for check-ups every six months to ensure nothing else has changed.

“I’m living a happy, healthy life, and it’s not something to be afraid of,” Carey said. “It’s something just to embrace.”

Carey said she wants to be an advocate for CHEK2 because she said that while many people know about the BRCA genes, she hasn’t found much support for people with CHEK2.

Bisordi said CHEK2 can also be connected with prostate cancer. At one time, it was linked to colorectal cancer, but she said that connection has since been removed.

View Katherine Bisordi’s interview regarding the CHEK2 genetic mutation, breast cancer and other cancers.