A 39-year-old premenopausal woman comes to the physician after a total mastectomy for a 3.5-cm invasive ductal carcinoma. The cancer is negative for estrogen and progestin receptors and for HER2 mutation. The margins were free of cancer and she had negative lymph nodes. The patient had adjuvant chemotherapy and opted to undergo contralateral mastectomy after she was found to have the BRCA1 mutation. She has 2 children and has completed her family. Her mother was diagnosed with ovarian cancer at age 51, and her paternal grandfather had prostate cancer in his 50s.
Her vital signs are within normal limits. Examination shows well-healed bilateral mastectomy scars.
Which of the following is the most appropriate next step in management of this patient?

Question

A 39-year-old premenopausal woman comes to the physician after a total mastectomy for a 3.5-cm invasive ductal carcinoma.  The cancer is negative for estrogen and progestin receptors and for HER2 mutation.  The margins were free of cancer and she had negative lymph nodes.  The patient had adjuvant chemotherapy and opted to undergo contralateral mastectomy after she was found to have the BRCA1 mutation.  She has 2 children and has completed her family.  Her mother was diagnosed with ovarian cancer at age 51, and her paternal grandfather had prostate cancer in his 50s.
Her vital signs are within normal limits.  Examination shows well-healed bilateral mastectomy scars.
Which of the following is the most appropriate next step in management of this patient?

Quizplus · Accepted Answer

This patient with a BRCA1 mutation is at significant risk of developing ovarian cancer and should be offered a risk-reducing salpingo-oophorectomy. BRCA1 and BRCA2 mutations make up the majority of the hereditary breast and ovarian cancer syndrome (HBOC) and are found in 5% of breast and 10% of ovarian cancers. Other associated cancers include melanoma, prostate, and pancreatic. Carriers of BRCA1 and BRCA2 mutations have an estimated lifetime risk of up to 75% for breast cancer and 20%-46% for ovarian cancer. Patients with breast cancer on one side have a substantial risk of developing contralateral breast cancer as well. Preventive measures for patients with BRCA mutations include close surveillance, chemoprevention, and risk-reducing surgery. Prophylactic mastectomy may be offered to BRCA carriers and reduces the risk of breast cancer by 90%-95%. Those who do not opt for prophylactic mastectomy should have aggressive breast screening with breast self-examination beginning at age 18 and clinical breast examination with annual mammogram and breast MRI beginning at age 25. Screening procedures for ovarian cancer may include a trans-vaginal ultrasound and CA125, but these tests have limited sensitivity for early disease (Choices A and D). Risk-reducing salpingo-oophorectomy should be offered to patients age >35-40 or who have completed their childbearing plans. The decision to screen for BRCA mutations is individualized based on risk. A number of tools are available to predict the risk for HBOC and determine which patients should be referred for genetic counseling and testing. In general, factors that increase the risk for HBOC include the following: Personal history of ovarian cancer, breast cancer before age 40, or bilateral breast cancerFamily history of breast cancer at a young age, bilateral breast cancer, breast and ovarian cancer, or male breast cancerEstrogen receptor-negative/progesterone receptor-negative/HER2-negative breast cancer ("triple-negative" breast cancer)Ashkenazi Jewish ancestry Personal history of ovarian cancer, breast cancer before age 40, or bilateral breast cancer Family history of breast cancer at a young age, bilateral breast cancer, breast and ovarian cancer, or male breast cancer Estrogen receptor-negative/progesterone receptor-negative/HER2-negative breast cancer ("triple-negative" breast cancer) Ashkenazi Jewish ancestry (Choice E) Tamoxifen is indicated as adjuvant therapy in patients with hormone receptor-positive breast cancer. It also has been shown to reduce the risk of contralateral breast cancer in women with breast cancer who are carriers for BRCA. This patient has had triple-negative breast cancer and a bilateral mastectomy and so would not benefit from chemoprophylaxis with tamoxifen. Educational objective: The BRCA1 and BRCA2 mutations account for the majority of the hereditary breast and ovarian cancer syndrome. Women with BRCA1 or 2 should be offered risk-reducing salpingo-oophorectomy when childbearing is complete or at age 35-40. __________ References: Hereditary breast/ovarian cancer syndrome: a primer for obstetricians/gynecologists. (http://www.ncbi.nlm.nih.gov/pubmed/24021253) An overview of hereditary breast and ovarian cancer syndrome. (http://www.ncbi.nlm.nih.gov/pubmed/23050669)

A 39-Year-Old Premenopausal Woman Comes to the Physician After a Total