Genetic Testing Referral for Breast, Colon, and Ovarian Cancer Risk
You should be referred for genetic testing if you meet specific personal or family history criteria, which can be assessed using a brief familial risk assessment tool administered by your primary care provider. 1
Who Should Be Referred for Genetic Testing
The decision to refer for genetic counseling and testing depends on your personal and family cancer history. All patients should have a detailed family history taken and recorded 2, including:
- First-degree relatives (siblings, parents, children): any cancers
- Second-degree relatives (grandparents, aunts, uncles, grandchildren, nieces, nephews, half-siblings on both maternal and paternal sides): any cancers
- For each cancer: type, age at diagnosis, whether multiple cancers occurred
High-Risk Personal History Criteria
You should be referred if you have a personal history of:
- Breast cancer diagnosed ≤45 years of age 3
- Triple-negative breast cancer diagnosed ≤60 years of age 3
- Male breast cancer (any age) 3
- Ovarian, fallopian tube, or peritoneal cancer (any age) 3, 4
- Colon cancer diagnosed ≤50 years of age 3
- Uterine cancer diagnosed ≤50 years of age 3
Family History Red Flags
You should be referred if you have a strong family history suggesting:
- Hereditary Breast and Ovarian Cancer syndrome (BRCA1/2 mutations): multiple relatives with breast or ovarian cancer, particularly at young ages 1, 4
- Lynch syndrome (hereditary nonpolyposis colorectal cancer): family history of colon, uterine, or other Lynch-associated cancers 4
Ancestry-Based Risk
Women with ancestry associated with BRCA1/2 mutations (such as Ashkenazi Jewish heritage) should also be assessed, even without extensive family history 1.
The Testing Process
The appropriate pathway is:
- Risk assessment tool administered by your primary care provider 1
- Genetic counseling if risk assessment is positive 1
- Genetic testing only if indicated after counseling 1
Having a genetic counselor involved significantly increases appropriate testing rates—cancer centers with genetic counselors achieve 91.6% testing of eligible patients versus 68.7% at centers without genetic counselors 3. This difference is particularly striking for colon cancer (90.8% vs 50%) and ovarian cancer (91.3% vs 62.8%) 3.
What NOT to Do
Do not pursue routine genetic testing if you have no personal or family history or ancestry associated with BRCA1/2 or other hereditary cancer syndromes 1. For average-risk women, screening tests like transvaginal ultrasound and CA-125 have not been proven to reduce mortality and can lead to harmful false-positive results requiring invasive procedures 4.
Key Genes to Consider
If testing is indicated, modern multi-gene panel testing typically includes 2:
- High-priority genes: BRCA1, BRCA2, PALB2, RAD51C, RAD51D (breast/ovarian cancer); MLH1, MSH2, MSH6, PMS2 (Lynch syndrome/colon cancer)
- Additional genes depending on your specific cancer history: ATM, CHEK2, BARD1 (breast); POLD1, POLE (colorectal)
Clinical Pitfall
The most common pitfall is failing to take an adequate family history. Many patients don't have complete information about relatives' cancers, but this should not prevent you from asking these questions or pursuing referral if any concerning patterns emerge 2. Even incomplete family history information can trigger appropriate genetic counseling referral.