Genetics & Cancer Risk

Navigating a CHEK2 mutation with Sharsheret

Learn what a CHEK2 mutation means for your health, how it can guide informed decisions, and where to find trusted support as you plan next steps.

Two women sit at a table having a serious conversation about Jewish breast cancer support. One gestures with her hand while the other listens. Papers, a notebook, and a mug are on the table in front of them.

Navigating a CHEK2 mutation with confidence.

While BRCA is a more familiar mutation and leads to a greater chance of someone developing breast cancer or ovarian cancer, CHEK2 is another mutation running through Jewish families that both men and women should pay attention to. 

Learning about a CHEK2 mutation can be an opportunity to take an active role in your health. With clear, reliable information and thoughtful guidance, you can get questions answered, understand your options, and make a plan that reflects your values and needs. Sharsheret is here to support you with expertise, compassion, and trusted resources as you move forward with confidence.

Cancer risk with CHEK2 gene mutation

The main risk for cancer with CHEK2 is breast cancer.  In women, the risk for breast cancer is usually between 23 – 27%. Men may also be at an increased risk for both male breast cancer and prostate cancer.  Cancer risks may vary based on your specific mutation and family history. 

There is a common founder mutation in the Ashkenazi Jewish population called c.1283C>T or p.S428F.  There is less breast cancer risk with this mutation than with most other CHEK2 mutations, likely less than 20%. If you have tested positive for an inherited CHEK2 mutation, we recommend that you speak with a Sharsheret genetics counselor who can look at your personal and family history of cancer and can help you choose the best plan for managing your cancer risk. 

Other cancer risks for people with a CHEK2 mutation

In the past, the NCCN guidelines listed colorectal cancer as increased for people with a CHEK2 mutation. NCCN has updated their guidelines to indicate no increased risk for colorectal cancer with a CHEK2 mutation. Some research has linked CHEK2 mutations to other cancer risks, such as thyroid cancer. More research is needed to prove these links. 

There is no increased risk for ovarian or pancreatic cancer with CHEK2, unlike the risks that come with BRCA1 and BRCA2.

It is important to note that cancer risks are estimates over the course of a person’s lifetime. Your lifetime risk and risk over the next five years will vary depending on:

  • Diet, exercise, lifestyle and other factors
  • Current age
  • Gender
  • Specific mutation
  • Personal and family health history

Cancer treatment with CHEK2

PARP inhibitors are a targeted cancer treatment developed to benefit those with BRCA mutations.  They may also be beneficial for those with CHEK2 mutations.  You can discuss the use of a PARP inhibitor with your doctor.