Contralateral prophylactic mastectomy in breast cancer patients who test negative for BRCA mutations.

BACKGROUND: Determination of BRCA1 and 2 mutation carrier status is important. Although BRCA carriers are offered bilateral mastectomy and oophorectomy, most who test negative decline. Some women choose contralateral prophylactic mastectomy (CPM) at the time of their breast cancer diagnosis despite testing negative. METHODS: A total of 110 women with breast cancer received genetic testing before surgical treatment. Patient demographics, tumor characteristics, surgical treatment, and magnetic resonance imaging use were recorded. RESULTS: Results revealed BRCA1/2 mutation in 33%, variant of unknown significance in 6%, and no mutation in 61% of women. In BRCA-negative women, 37% chose CPM. Marital status was significant for CPM (P = .03). Race, age, stage of presentation, and biomarker status were not associated with choice of CPM. Ninety-six percent of CPM recipients underwent breast reconstruction. Magnetic resonance imaging use did not affect CPM rates (P = .99). CONCLUSIONS: Increased rates of CPM have been observed. In our study married women were more likely to choose CPM. We recommend genetic genotyping before surgery. These findings warrant further investigation.

Familial small cell carcinoma of the ovary.

Ovarian tumors have a low incidence in childhood, accounting for 1% of malignancies within the ages of 0-17 years. Small cell carcinoma of the ovary is a rare histology and historically has a poor prognosis. We report a case of an 11-year-old female diagnosed with small cell carcinoma of the ovary and hypercalcemia (SCCOHT). There was a strong family history of the disease, a reduction in the age of onset in the proband, and the absence of BRCA mutations. This case suggests the phenomenon of genetic anticipation in an ovarian cancer.