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Cancer Predisposition Syndromes: What Are They?

Childhood cancer is rare. About 10 to 15 percent of children diagnosed with cancer have an increased risk of developing cancer due to identifiable genetic factors. A person with a mutation (change) in their genetic material that increases their risk of cancer has a cancer predisposition syndrome. Not all children with such a syndrome will develop cancer.

Some cancer predisposition syndromes are hereditary. This means they might be passed down from parent to child. Some children inherit the syndrome from their parent(s). Others are the first in their families to acquire the syndrome. They can then pass it down to future children. Some cancer predisposition syndromes affect only the child, but cannot be passed down to future generations.

Many cancer predisposition syndromes don't show any physical signs other than the development of cancer. If they do show signs, they may be subtle. Just because a child has been healthy prior to developing cancer does not mean they do not have a cancer predisposition syndrome. Genetic testing may be the only way to know.

Examples of Cancer Predisposition Syndromes

Reasons to Consider Referral for Cancer Predisposition

  • Your child was diagnosed with cancer, or you or were diagnosed with cancer as a child, particularly a cancer that is typically seen in adults.
  • Your child was diagnosed at a much younger age than usual.
  • Diagnosis of a rare cancer type
  • Diagnosis with bilateral or multifocal cancer
  • You or your child has had multiple different types of cancer or tumors
  • You or your child has had genetic testing confirming genetic predisposition to cancer
  • You or your child’s tumor was tested and found to have a mutation that may suggest genetic predisposition to cancer
  • Your family history has multiple people with the same type of cancer
  • Your family history has lots of people with cancer
  • A close relative is known to have a genetic predisposition to cancer

What to Bring to Your Appointment at the Pediatric Cancer Predisposition Program

  • Any prior genetic testing results (tumor, blood and/or saliva)
  • A detailed history of any previous cancer you or your child has had
  • Information about other family members with cancer (siblings, parents, aunts and uncles, cousins, or grandparents), including cancer type(s) and age of diagnosis.