CHEK2 Gene Mutation

What is CHEK2?

CHEK2 is a gene that helps repair damage to your DNA. People who are born with changes—called mutations—in their CHEK gene have an increased risk for certain types of cancer.   

Which cancers are associated with a CHEK2 mutation?

People with an inherited mutation in CHEK2 have an increased risk for certain cancers, including:

• breast cancer in women
• male breast cancer

CHEK2 mutations have also been linked to an increased risk for prostate and other cancers, but more research is needed to confirm this. 

Does everyone with a CHEK2 mutation develop cancer?

Although the lifetime risk for cancer with a CHEK2 mutation is higher than average, not everyone with the mutation develops cancer. Following the guidelines for screening and prevention increases the chances of preventing cancer or catching it at its earliest and most treatable stage.

What can people do if they are positive for a CHEK2 mutation?

People with a CHEK2 mutation may have options for screening, prevention and treatment for hereditary cancer. There are expert guidelines and clinical trials that focus on:

• screening and early detection
• risk-reduction
• treatment

These guidelines are based on the most current research and updated yearly. People who test positive for a CHEK2 mutation should speak with a genetics expert to make sure that their medical care is based on the most up-to-date information. 

If you test positive for a CHEK2 mutation, you should inform your close blood relatives (first-, second-, and third-degree relatives) about your test results and encourage them to speak with a genetics expert. 

Can CHEK2 mutations skip a generation?

CHEK2 mutations are passed down from parents to children, but they do not skip generations. Each person with a CHEK2 mutation has a 50% chance of passing their mutation on to each of their children. Children who did not inherit their parent's CHEK2 mutation cannot pass the mutation to their children.

People with a CHEK2 mutation who never develop cancer can still pass their mutation on to their children. A child who inherits their parent's CHEK2 mutation will be at increased risk for cancer.