Targeted Colorectal Cancer and Polyp Family History Tool

Family history is the most important information to gather when identifying red flags for familial increased risk for hereditary colorectal cancer (CRC) in unaffected individuals.

Note: For individuals with colon cancer and other related cancers, the targeted family history may provide important clues about the presence of a hereditary cancer syndrome as the etiology of the cancer, but keep in mind that individuals with hereditary syndromes may not always have a positive family history.

Family History Principles

  • Collect a detailed family history targeting cancer and colon polyps. Gather information for first-degree (parent, sibling or child) and second-degree (grandparent, uncle/aunt, nephew/niece or half sibling) relatives on both the maternal and paternal sides of the family.

  • Ask about all types of cancer, not just CRC. Cancer syndromes can include risk for multiple types of cancers. CRC is not always a presenting cancer.

  • Collect information about three generations. For CRC, include cancer and polyp history for the patient’s generation and two prior generations at a minimum.

  • Update family history over time because it may change. Risk assessment is an ongoing process that requires regular updates of the family and medical history.

Key questions: Family history targeted to CRC

1)     Have any of your family members been diagnosed with any type of cancer, on either your maternal or paternal side of the family? If yes:

2)     Has anyone else in your family been diagnosed with cancer? If yes:

3)     Has anyone in your family been diagnosed with polyps?  If yes:

(See the polyp history questions below if the family history suggests the possibility of a polyposis syndrome.)

4)     Did anyone in your family die in childhood, early adulthood or in middle age? If yes:

5)     Do any members of your family have inflammatory bowel disease (Crohn’s disease or ulcerative colitis)? If yes:

Note: Individualize complexity and define terms as necessary for each patient.

Key Questions: Family History Targeted to Polyps

These questions should be integrated into the targeted family history for colorectal cancer (CRC) when the family history suggests the possibility of a polyposis syndrome. Note that most patients will not know the answers to many of these questions and will need to ask relatives for more information.

Determine the number of relatives who have polyps and ask the following questions, as applicable based on the answers to the questions that precede them:

  • What was the relative’s age at first colon exam and age at first diagnosis of polyps?
  • How were the polyps diagnosed? (e.g., colonoscopy, flexible sigmoidoscopy, barium enema)
  • How many polyps has the relative had, either during each colonoscopy or total in his/her lifetime?
  • What type of polyps did the relative have? (adenomas, hyperplastic, juvenile, serrated or hamartomas)
  • Has the relative had any surgeries for polyps (e.g., for removal of large polyps or for intussusceptions)?
  • Has the relative ever had CRC? If yes, age at diagnosis?
  • Has the relative ever been diagnosed with a polyposis syndrome (e.g., familial adenomatous polyposis or attenuated FAP)?
  • Has the relative ever had any extracolonic manifestations such as osteomas, sebaceous cysts, desmoid tumors, spots on their retina (CHRPE), extra teeth, etc.?
  • Has the relative ever had genetic testing for a polyposis or hereditary cancer syndrome?
  • Is the relative willing to sign a release to share the relevant portion of his/her medical record?

Editor’s Note

Developed through collaboration between the National Coalition for Health Professional Education in Genetics and the American Medical Association