Cancer Predisposition Syndromes: What Families Should Know

Genetics plays a key role in understanding some childhood cancers. Research shows that at least 10% of cancers in children are linked to gene changes present from birth. In this post, we’ll explain what cancer predisposition syndromes are, how they work, who might be affected, and what families and doctors can do when one is identified.

What are cancer predisposition syndromes?

A cancer predisposition syndrome is an inherited genetic condition that significantly raises a child's lifetime risk of developing one or more types of cancer. It occurs when a person is born with a change or mutation, in a gene that normally helps protect the body against tumor growth. Because this gene change is present from birth, cancer linked to a predisposition syndrome can develop earlier in life than it typically would otherwise, and some people with these syndromes go on to develop more than one type of cancer over their lifetime.

It's important to understand that a predisposition syndrome means an increased risk of cancer, not a guarantee. The degree of that increased risk varies widely depending on the specific syndrome, and many children and adults living with a cancer predisposition syndrome never develop cancer at all.

You may come across other terms used to describe this same concept, including hereditary cancer syndrome, family cancer syndrome, and inherited cancer syndrome. These terms are generally used interchangeably, all referring to genetic conditions passed down through families (or, in some cases, arising for the first time in a child) that increase the risk of developing cancer.

What causes a cancer predisposition syndrome?

Some people are born with a gene change in one of the genes that usually protects us from getting cancer. Typically, these gene changes make it harder for our bodies to stop tumors and cancers from growing. This leads to an increased risk of tumors and cancer.

Sometimes, a cancer predisposition syndrome is passed down from a parent to their child. Other times, it happens for the first time in a child.

Once a gene change is identified in a family, genetic testing may be recommended for other family members to see if they also have an increased risk of getting cancer. Learn more about cancer predisposition syndromes.

Does a cancer predisposition syndrome cause symptoms on its own?

Not always. Many cancer predisposition syndromes don't cause any noticeable signs until a tumor actually develops, which is one reason family history and genetic testing play such an important role in identifying them. That said, some syndromes do come with physical clues that can prompt earlier evaluation, such as distinctive skin changes, differences in growth patterns or other developmental features specific to that syndrome. When these features are present, they can help a child's care team recognize a predisposition syndrome before cancer ever develops, allowing for closer monitoring from an earlier age.

How does Lurie Children’s help patients with cancer predisposition syndromes?

Children and families with a suspected or known cancer predisposition syndrome are followed in the Cancer Predisposition Program. This program provides comprehensive genetic counseling and testing services, as well as guidance for managing the syndrome. This is all based on the results of personalized cancer risk assessments.  The program also offers support services to help families navigate treatment.  We connect families with resources and support organizations. The team also helps ensure that the patient and their family have the tools needed to succeed in daycare, school, work, and other important parts of life.  

What to Expect

A typical visit includes meeting with a cancer predisposition physician (a cancer doctor, also called an oncologist), genetic counselor, and social worker. After the visit, a nurse helps coordinate any screening and follow-up that was recommended at the visit.

There are many reasons a child may be referred to the Cancer Predisposition Clinic. Sometimes, a child has a tumor or other health concern which has been associated with a specific cancer predisposition syndrome. Some children are referred because they have family members with a cancer predisposition syndrome or have close family members who have had cancer. Some children are referred because they had genetic testing for other reasons and were found to have a genetic change that increases their risk of cancer.

No matter what brings a child to the Cancer Predisposition Clinic, our dedicated multidisciplinary team provides a personalized approach to meet the unique needs of each family.

Learn more about our Cancer Predisposition Program