Breast Cancer Screening with Recommendations

Patients with a known genetic predisposition to breast cancer

Known Carrier of a BRCA1 or BRCA2 Mutation (High Penetrance Breast Cancer Predisposing Genes)

• Untested individual with known close relative with BRCA1 or BRCA2 mutation
• Known carrier or untested individual with known close relative with another hereditary breast cancer syndrome gene (Li-Fraumeni syndrome, Cowden’s disease, Peutz-Jeghers syndrome, hereditary diffuse gastric cancer, other)

Recommendations

• Beginning at age 25, CBE at least once per year
• Annual mammogram and MRI beginning at age 25 or individualized based on earliest age onset in family. Preliminary data suggest that alternating MRI and mammography every six months may be helpful.
• If close relative, consider genetic testing

Patients without a known genetic predisposition to breast cancer

Patients Who Should Consider Genetic Testing

• Personal history of breast cancer diagnosed at age ≤ 50
• Personal history of ovarian cancer at any age
• Male relative with breast cancer
• 1st- or 2nd-degree relative diagnosed with breast cancer at < age 50
• 1st-degree relative, or (paternal) 2nd-degree relative diagnosed with DCIS at age ≤ 40 or ovarian cancer (any age)
• A diagnosis of breast cancer (or DCIS) and ovarian cancer in a single 1st- or 2nd-degree relative—or two close relatives in the same lineage
• Two relatives in the same lineage with early onset breast cancer
• Women of Ashkenazi Jewish ancestry may be included despite fewer affected relatives or later age onset

• For women whose genetic test results are positive, follow the
  recommendations above
• For women whose genetic test results are negative:
  • Women in a family with a known mutation who test negative are true
    negative and should follow the recommendations for patients at usual risk (below).
  • Women in a family without a known mutation who test negative should
    be referred to a genetics center. If possible, genetic testing should be
    performed with a genetic counselor or genetics expert.
  • Consider breast MRI for patients with a lifetime risk of breast cancer >
    20% as defined by BRACPRO or other models that are largely dependent
    on family history.

Patients with a higher than usual risk for breast cancer

Therapeutic Thoracic Radiation (e.g. Hodgkins) Age < 30

• Risk from therapeutic radiation is much greater than risk from diagnostic radiation. The risk from infant thymus radiation, fluoroscopy for TB, or multiple X-rays for scoliosis is not well quantified.

Recommendations

• Annual mammogram beginning 8–10 years after radiation or at age 25
• Consider CBE at least once per year beginning at age 25
• Annual MRI in addition to annual mammogram

Histology

• Lobular carcinoma in situ (LCIS)
• History of ductal carcinoma in situ (DCIS)
• History of invasive breast cancer
• Atypical ductal or lobular hyperplasia (ADH or ALH): consider using the Gail Model for risk assessment
  

Recommendations

• Annual mammogram after diagnosis
• CBE at least once per year
• Consider referral to high-risk counseling or risk reducing medication

Reproductive and Other Risk Factors

• Menarche before age 12
• Nulliparity
• First birth after age 30
• Prior breast biopsy
• >5 years of combined estrogen/progesterone hormone replacement therapy

Recommendations

• For a patient age ≥ 35 with a constellation of these risk factors, consider assessment via the Gail Model to determine her level of risk for breast cancer.
• For patients with Gail Model five-year risk ≥ 1.67: CBE at least once per year, annual mammogram, consider high-risk counseling or risk reducing medication. (USPSTF recommends starting medication at ≥ 3.0. Patient may also be eligible for risk reducing clinical trials.)

Patients with a usual risk for breast cancer

Patients Who Have None of the Risk Factors Listed Above

Recommendations

• Age ≥ 50: Begin bi-annual mammograms, consider annual CBE
• Age 40-49: Annual breast cancer risk discussion with risk factor review and CBE, consider bi-annual mammogram
• Age < 40: Consider CBE every 1–3 years

See Also

Breast Cancer Assessment