Targeted Colorectal Cancer and Polyp Family History Tool

Family history is a valuable tool for identifying risk for hereditary colorectal cancer (CRC).

Family History Principles

• Collect a targeted family history of 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.

• Update family history over time. Risk assessment is an ongoing process that requires regular updates of the personal and family history.

Key Questions: Family History Targeted to CRC

If yes to any of the questions below, note the individuals affected, ages of onset, and details about manifestations of disease as indicated.

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

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

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

4)     Has a relative ever had genetic testing for a polyposis or hereditary cancer syndrome?

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

5)     Did anyone in your family die in childhood, early adulthood or in middle age?

6)     Do any members of your family have inflammatory bowel disease (Crohn’s disease or ulcerative colitis)?

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 had 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 many total polyps has the relative had?
• What type of polyps did the relative have? (adenomas, hyperplastic, juvenile, serrated or hamartomas)
• 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.?
• Is the relative willing to share the relevant portion of his/her medical record?

Editor’s Note

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

 Updated May 2019