Having a strong family history of cancer can increase your personal risk. Genetic testing can help identify whether you carry inherited mutations that raise your risk for certain cancers, including breast, ovarian, pancreatic, prostate, and colon cancers. This information can guide prevention, screening, and treatment decisions for you and your family.
Who Should Consider Genetic Testing?
You may be a candidate if you have:
1. Multiple close relatives with breast, ovarian, colon, or related cancers, especially if diagnosed before age 50.
2. A family member who has had more than one type of cancer.
3. Several generations of relatives with cancer (on either your mother’s or father’s side—both matter equally).
4. A family history of cancers associated with inherited syndromes that include, but are not limited to Breast & Ovarian Cancer Syndrome (BRCA1/BRCA2, PALB2, others), Lynch Syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM)
What Is Genetic Testing?
Genes and Cancer: Cancer develops because of mutations (changes) in genes. Most mutations are acquired during life, but about 5–10% of breast and colon cancers are linked to inherited mutations passed from parent to child.
BRCA1 and BRCA2: Mutations significantly increase the risk of breast, ovarian, pancreatic, and prostate cancers.
Lynch Syndrome Genes (MLH1, MSH2, MSH6, PMS2, EPCAM): Increase the risk of colon cancer (up to 80% lifetime risk), as well as endometrial, ovarian, gastric, and other cancers.
Expanded Panels: Modern genetic tests often evaluate multiple genes at once, giving a more complete risk profile.
How Is Testing Done?
Genetic testing is performed with a blood test or cheek swab. Results usually take a few weeks.
Before testing, it’s important to discuss with your healthcare provider or genetic counselor:
Medical implications: What positive, negative, or uncertain results mean for your care.
Emotional impact: How results may affect you and your family.
Insurance considerations: Health insurance often covers testing for those at risk, but implications for life or disability insurance should be considered.
Why Genetic Testing Matters
Positive results: May lead to earlier and more frequent screening (e.g., breast MRI, colonoscopy every 1–2 years), medications to lower cancer risk, or preventive surgeries (e.g., mastectomy, salpingo-oophorectomy, colectomy).
Negative results: Can be reassuring but does not always mean risk is average, especially if family history is strong.
Variants of Uncertain Significance (VUS): Results that aren’t fully understood; follow-up is important as science advances.
Colon Cancer and Genetic Risk
General population risk: ~4–5% lifetime risk of colon cancer.
Lynch Syndrome carriers: Up to 50–80% lifetime risk without preventive measures.
Other genes (e.g., MUTYH-associated polyposis): Cause multiple colon polyps and increased cancer risk.
Screening for high-risk patients:
Colonoscopy starting as early as age 20–25, or 2–5 years earlier than the youngest diagnosis in the family.
Repeat colonoscopy every 1–2 years for Lynch Syndrome carriers.
Consider aspirin therapy for risk reduction (per NCCN and ACG guidelines).
Next Steps
If you have a family history of breast, ovarian, colon, or related cancers, ask your provider whether genetic counseling and testing may be right for you. Understanding your genetic risk can empower you to take proactive steps for your health and your family’s future.