What is the next step in management for a 30-year-old woman with a family history of breast cancer, who presents with breast pain and has a normal mammogram, with her mother and sister having died of breast cancer at 40 years old?

From the Guidelines

For the 30-year-old woman with breast pain and significant family history of breast cancer, the most appropriate next step is option 3: genetic counseling. Given her mother and sister both died of breast cancer at young ages (sister at 40), this strongly suggests a hereditary cancer syndrome such as BRCA1/2 mutations 1. Genetic counseling and testing can identify if she carries a pathogenic mutation, which would significantly impact her management plan. If positive, enhanced surveillance or risk-reducing strategies might be recommended. Annual mammogram alone is insufficient given her high-risk status, MRI without genetic testing is premature, and prophylactic mastectomy would be excessive without first confirming genetic risk. The American Cancer Society recommends that women with a strong family history of breast cancer, such as this patient, should be referred for genetic counseling for consideration of testing for hereditary predisposition to genetic mutations 1.

Some key points to consider in this patient's management include:

• The patient's age and family history suggest a potential for hereditary breast cancer syndrome
• Genetic counseling and testing can help identify if she carries a pathogenic mutation
• If positive, enhanced surveillance or risk-reducing strategies might be recommended
• Annual mammogram alone is not sufficient for high-risk patients
• MRI without genetic testing is premature, and prophylactic mastectomy would be excessive without first confirming genetic risk

According to the most recent guidelines, women with a family history of breast cancer should begin screening mammography earlier, typically 10 years prior to the youngest age at presentation but generally not before 30 years of age 1. However, given this patient's significant family history, genetic counseling is the most appropriate next step to determine the best course of action for her individual situation.

From the Research

Anal Fistula Treatment Options

• The patient has a suspicious opening at the midposterior region with a mucosal bulge and no external opening, and an MRI shows a collection 1.2 cm just inside the levator plate 2, 3.
• Treatment options for anal fistulas include:
  • Cutting Seton: a traditional method, but may have a higher risk of recurrence and incontinence.
  • Fibrin glue: a sphincter-sparing approach with minimal morbidity, but success rates vary from 0% to 100% 4, 5.
  • Lay open from within: a surgical approach that may be effective, but may also have a higher risk of incontinence.
  • Lift procedure: a minimally invasive approach that may be effective, but more research is needed to validate its effectiveness 3.

Breast Cancer Screening

• The patient has a family history of breast cancer, with her mother and sister dying of breast cancer at 40 years old.
• The patient had a mammogram that showed no abnormalities.
• Next steps for breast cancer screening include:
  • MRI: may be recommended for high-risk patients, but is not typically used as a screening tool for average-risk patients.
  • Annual mammogram and follow-up: recommended for women with a family history of breast cancer.
  • Genetic counseling: may be recommended for patients with a strong family history of breast cancer.
  • Simple mastectomy: not typically recommended as a screening tool, but may be considered for high-risk patients.