Cancer Genetic Risk Assessment

Categorizing Risk

The purpose of genetic risk assessment is to identify individuals at elevated cancer risk who may benefit from genetic testing, additional screening or preventive interventions. Using clues from the personal and family history, you can classify an individual as average (general population), increased (moderate), or high (strong) risk.

General Criteria for Average, Increased (Moderate) and High (Strong) Cancer Risk

Average Risk for Cancer

An absence of the red flags and risk factors associated with increased or high risk.

Increased (Moderate) Risk for Cancer

A patient may be at increased risk for cancer because of a family history contribution, personal or lifestyle risk factors, or a combination of the two. Family histories suggestive of increased risk may show familial clustering of cancer but do not meet the criteria for high risk.

Family history:

• One first-degree relative with common cancer at average age only
• One first- and one second-degree relative or two second-degree relatives with common cancer at average ages only

In addition to family history, personal history risk factors can increase an individual's risk of developing cancer. Consider the following risk factors:

• Medical history
• Patient race or ethnicity
• Reproductive history
• Lifestyle, behaviors, and exposures

High (Strong) Risk for Hereditary Cancer

Individuals at high risk for a hereditary cancer syndrome typically have one or more of these family history features:

• 3 or more relatives with similar or related cancers
• 2 generations of cancer cases, and
• At least 1 individual diagnosed at a younger than usual age
• Known hereditary cancer mutation or clinical diagnosis
• Presence of certain cancers in patient or close blood relatives (e.g., ovarian, pancreatic, triple negative breast, multiple primary breast, male breast, metastatic or high/very high grade prostate)
• Other characteristic features may include:
  • At least 1 individual with bilateral or multiple primary tumors
  • At least 1 relative with a rare tumor or rare presentation, or a pathology associated with hereditary cancer
  • Presence of other nonmalignant features
  • Absence of environmental risk factors

Cancer Genetic Risk Assessment Models

Risk assessment tools and models can help identify patients at increased risk. Different models may provide slightly different risk numbers, depending on the factors considered in the algorithm.

In addition to the models and risk calculators listed below, providers can also look to the literature for empiric risk estimates. This can be particularly helpful when assessing risk levels for a family that demonstrates increased risk based on clustering of cancer.

Cancer Genetic Red Flags Checklist. This tool includes a general list of red flags as well as breast and colon specific red flags.

Breast Cancer Risk Assessment Tools

Breast Cancer Risk Assessment Tool (National Cancer Institute). Considers personal history, reproductive history, and some family history to provide 5-year and lifetime risk estimates for breast cancer.

Breast Cancer Genetics Referral Screening Tool (Georgia Department of Public Health). Collects targeted family history information about breast and ovarian cancer. Screens for the appropriateness of a referral to cancer genetic services based on risk level. Includes a patient version.

NCCN Criteria for Further Genetic Risk Evaluation: Guidelines for Detection, Prevention and Risk Reduction of Breast/Ovarian and Colorectal Cancer.  Includes personal and family history features that should warrant consideration of a referral to cancer genetic services. Requires free account setup.

Tyrer-Cuzick Risk Assessment Tool (IBIS). Collects targeted personal and family history information and estimated 10-year and lifetime risk of breast cancer, as well as risk of HBOC.

For Patients

Family HealthLink (Ohio State University Medical Center). Collects personal and family history information to determine a risk estimate for cancer and cardiovascular disease.

Colon Cancer Risk Assessment Tools

Colon Cancer Risk Assessment Tool (National Cancer Institute). Considers personal history, diet, exercise, exposures, and some family history to provide 5-year, 10-year and lifetime risk estimates for colon cancer.

PREMM model. A clinical prediction algorithm that estimates the probability of an individual carrying a germline mutation for Lynch syndrome.

For Patients

Colon Cancer Risk Assessment Tool (Cleveland Clinic).Collects personal, behavioral, and family history information to determine a risk estimate for colorectal cancer.

3 Questions to Assess Your Familial Colorectal Cancer Risks (Columbia University). Asks three basic questions to determine if an individual is at increased risk.

Updated August 2023

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