High Risk-Breast Cancer Evaluation & Genetic Testing
Comprehensive assessment and genetic counseling for individuals with family history or genetic mutations like BRCA1/2, helping determine personalized prevention and screening strategies.

Understanding Breast Cancer Risk

Everyone has some risk of developing breast cancer. For most women, the average lifetime risk is about 8–12%. However, some people have a higher risk—especially if they have certain family history patterns, dense breast tissue, or a genetic mutation.

Doctors use tools like the Tyrer-Cuzick model and the Gail model to estimate your personal risk. These models look at:

  • Family history of breast cancer

  • Personal health and reproductive history

  • Breast density

  • Hormone exposure over time

If your lifetime risk is 20–25% or higher, you are considered high risk and may benefit from additional screening and follow-up.

What Makes Someone High Risk?

You may be considered high risk if you:

  • Have dense breast tissue (seen on a mammogram)

  • Have a strong family history of breast or ovarian cancer

  • Have had a breast biopsy showing certain high-risk cells

  • Carry a known genetic mutation (like BRCA1, BRCA2, PALB2, etc.)

  • Have a high risk score on the Gail or Tyrer-Cuzick model lifetime Risk of >20%

High-Risk Breast Cancer Screening Plan

If you are high risk, you will be followed closely in our office with:

  • Visits every 6 months for a breast exam and review of your imaging

  • Annual mammogram

  • Annual MRI of the breast (in addition to the mammogram)

* Note: Breast ultrasound is not routinely used for high-risk screening if both mammogram and MRI are being done, even in women with dense breasts.

Medications to Lower Your Risk (Chemoprevention)

For women at increased risk (but without a genetic mutation), certain medications may help reduce the chance of developing breast cancer. These include:

  • Tamoxifen or raloxifene (SERMs)

  • Anastrozole or exemestane (aromatase inhibitors)

These options are based on your individual risk, age, and health history, and are typically recommended when your 5-year breast cancer risk is 1.7% or higher.

Genetic Testing and Inherited Breast Cancer Risk

About 5–10% of breast cancers are linked to inherited (genetic) mutations.

You may be offered genetic testing if you have:

  • A personal or family history of breast, ovarian, or other related cancers

  • A known family mutation (e.g., BRCA1 or BRCA2)

Genes That Increase Breast Cancer Risk Include:

  • BRCA1, BRCA2, PALB2, TP53 (Li-Fraumeni), PTEN (Cowden), STK11 (Peutz-Jeghers), CDH1

  • Other moderate-risk genes: ATM, CHEK2, NBN, NF1 and others

What Happens if You Have a Gene Mutation?

If you're found to have a pathogenic mutation, we will:

  • Offer enhanced screening (e.g., annual mammogram + MRI)

  • Discuss options like risk-reducing mastectomy +/- reconstruction and/or removal of ovaries

  • Offer counseling for your family members, who may also be at risk

Surgical Options for Risk Reduction

  • Risk-reducing mastectomy may be considered for those with BRCA1, BRCA2, PTEN, or TP53 mutations, especially if there is a strong family history.

  • Preventive removal of ovaries and fallopian tubes (salpingo-oophorectomy) is recommended for BRCA1/2 carriers:


    • BRCA1: Consider between ages 35–40

    • BRCA2: Consider between ages 40–45

    • This surgery may also reduce breast cancer risk in premenopausal women.

Key Takeaways

  • Dense breasts, family history, and genetics all play a role in your personal risk.

  • If you're at high risk, you'll need closer monitoring, often with both MRI and mammogram every year.

  • Genetic testing can guide screening and prevention strategies—and help your family too.

  • Not every gene mutation means surgery is needed. Each case is individualized based on your full risk profile.

Lifestyle Still Matters

You can also reduce your breast cancer risk by:

  • Eating a balanced, healthy diet

  • Staying physically active

  • Maintaining a healthy weight

  • Limiting alcohol and avoiding tobacco

Make an appointment with Dr. Coste to further determine your risk of breast cancer if you have a family history of breast cancer or would like to perform genetic testing.