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A 35-year old Jewish woman of Ashkenazi descent is evaluated during a routine examination. Her medical history is noncontributory. The family history includes a paternal grandmother who had bilateral breast cancer at ages 42 and 50 years and died of metastatic breast cancer at age 53 years; and a paternal great aunt who had had ovarian cancer at age 45 years and breast cancer at age 51 years. Her two sisters, mother, and mother's relatives have not had breast or ovarian cancer, and her father is healthy without any cancer.
Physical examination, including breast and pelvic examination, is normal.
She is concerned about her family history and wants to know whether there is anything she can do to reduce her risk for cancer.
Which of the following is the most appropriate next step in management?
A Prophylactic bilateral mastectomy
B Prophylactic oophorectomy
C Low-fat diet
D Genetic counseling
E Tamoxifen
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The correct answer is D) Genetic counseling.
This patient's family history of breast and ovarian cancer and the constellation of disease in the affected relatives—combined with the patient's Ashkenazi Jewish descent—may increase her risk for these types of cancer. Compared with the general population, women who are of Ashkenazi Jewish descent are five times more likely to harbor BRCA1 or BRCA2 mutations, which confer a significantly higher risk for breast and ovarian cancer compared with persons without these mutations. Therefore, referral to a genetic counselor is appropriate for this patient and will enable her to become informed about her options for reducing cancer risk. Although women with BRCA1/BRCA2-postive breast or ovarian cancer do not necessarily have a worse prognosis than those without these genetic mutations, they do have a substantially higher risk for mortality simply because of the enormously increased frequency with which breast and ovarian cancer occur in these higher-risk populations.
Retrospective and prospective studies have suggested that prophylactic mastectomy decreases the risks for breast cancer incidence and mortality by 90% or more. Likewise, prophylactic oophorectomy should be considered in women who have tested positive for a BRCA1/2 mutation and who have completed childbearing. However, these are drastic approaches and not a consideration for this patient until she learns more about her degree of cancer risk through genetic counseling.
Breast cancer risk was not reduced in an unplanned, retrospective subset analysis of women who appeared likely to harbor BRCA1 and/or BRCA2 abnormalities and who participated in a prospective randomized clinical trial of tamoxifen versus placebo for chemoprevention. However, other studies have suggested that tamoxifen is equally effective in preventing breast cancer regardless of BRCA1 and/or BRCA2 status. Nonetheless, tamoxifen therapy would be premature in this patient before she is determined to be at high risk for breast and/or ovarian cancer.
