What are the recommendations for a 36-year-old (thirty-six-year-old) asymptomatic female with a strong family history of breast cancer in Alberta, Canada?

From the Guidelines

For a 36-year-old asymptomatic female with a strong family history of breast cancer in Alberta, Canada, I recommend genetic counseling and testing for BRCA1/2 and other high-risk gene mutations, as this is the most effective way to assess her individual risk and guide further management decisions 1. This recommendation is based on the most recent and highest quality evidence, which emphasizes the importance of genetic counseling and testing in women with a strong family history of breast cancer. The European Society for Medical Oncology (ESMO) guidelines, published in 2016, recommend that women with a strong family history of breast cancer should be offered genetic counseling and testing for BRCA1/2 and other high-risk gene mutations 1. Following genetic counseling and testing, enhanced screening including annual mammograms and annual breast MRI should be considered, starting at age 25 or 10 years earlier than the age of the youngest affected relative, whichever is earlier 1. Additionally, clinical breast examinations every 6-12 months by a healthcare provider, and risk-reducing medications like tamoxifen or raloxifene, may be considered after thorough discussion with your doctor about benefits and risks. Lifestyle modifications, such as maintaining a healthy weight, limiting alcohol consumption, exercising regularly, and avoiding hormone replacement therapy when possible, are also important. Some women with confirmed high-risk genetic mutations may consider preventive surgeries like bilateral mastectomy, though this is a personal decision requiring careful consideration. The recommendation for enhanced surveillance is based on the increased lifetime risk of developing breast cancer due to a strong family history, which may be 2-3 times higher than the general population depending on how many close relatives were affected and at what ages. It is essential to note that the Alberta Breast Cancer Screening Program provides these services through referral from your family physician, and women should be encouraged to participate in dedicated high-risk follow-up clinics that specifically focus on follow-up and screening of individuals with a known hereditary cancer syndrome 1.

From the FDA Drug Label

Tamoxifen citrate tablets are indicated to reduce the incidence of breast cancer in women at high risk for breast cancer. “High risk” is defined as women at least 35 years of age with a 5 year predicted risk of breast cancer ≥ 1.67%, as calculated by the Gail Model.

The patient is a 36-year-old asymptomatic female with a strong family history of breast cancer. To determine if tamoxifen is recommended, we need to calculate her 5-year predicted risk of breast cancer using the Gail Model. Key factors to consider in the Gail Model include:

• Age
• Family history of breast cancer
• Number of benign biopsies
• History of atypical hyperplasia
• Age at first live birth
• Age at menarche Since the patient's specific risk factors are not fully described, the Gail Model is necessary to estimate her absolute breast cancer risk. Recommendation: The patient should consult with her healthcare provider to assess her individual risk and discuss the benefits and risks of tamoxifen therapy 2.

From the Research

Recommendations for a 36-Year-Old Asymptomatic Female with a Strong Family History of Breast Cancer in Alberta, Canada

• The patient should consider genetic counseling and testing for BRCA1 and BRCA2 mutations, as these mutations increase the risk of breast, ovarian, fallopian tube, and peritoneal cancer in women 3.
• A screening tool can be used to identify women at high risk for hereditary breast and ovarian cancer (HBOC) syndromes, and genetic counseling and testing can be provided to eligible women 4.
• Chemoprevention with a selective estrogen receptor modulator (tamoxifen or raloxifene) may be an effective risk-reduction option for BRCA mutation carriers, but further studies with longer follow-up are necessary 5.
• Risk-reducing mastectomy and salpingo-oophorectomy can decrease breast cancer incidence and mortality, but these procedures are associated with complications and should be considered on a case-by-case basis 3, 6.
• The patient should discuss her individual risk factors and options with a healthcare provider to determine the best course of action for her specific situation.

Risk Assessment and Genetic Counseling

• Risk assessment tools can accurately estimate individual risk for BRCA mutations, and genetic counseling can increase the accuracy of risk perception and decrease cancer-related worry, anxiety, and depression 3, 6.
• Genetic counseling can also help women understand their risk and make informed decisions about genetic testing and risk-reducing interventions.

Risk-Reducing Interventions

• Tamoxifen and raloxifene have been shown to reduce the risk of invasive breast cancer in high-risk women, but the effectiveness of these medications in BRCA mutation carriers is not well established 5, 3.
• Risk-reducing mastectomy and salpingo-oophorectomy can significantly reduce the risk of breast and ovarian cancer, but these procedures are associated with complications and should be considered carefully 3, 6.