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Background: Magnetic resonance imaging (MRI) has been used to supplement screening mammography and clinical breast examination (CBE) in women who are at high risk of developing breast cancer. In this study, the authors investigated the efficacy of alternating screening mammography and breast MRI every 6 months in women who had a genetically high risk of developing breast cancer., Methods: A retrospective chart review was performed on all women who were seen in a high-risk breast cancer clinic from 1997 to 2009. Patients with breast cancer gene (BRCA) mutations who underwent alternating screening mammography and breast MRI every 6 months were included in the study. Mammography, ultrasonography, MRI, and biopsy results were reviewed., Results: Of 73 patients who met the study criteria, 37 had BRCA1 mutations, and 36 had BRCA2 mutations. Twenty-one patients (29%) completed 1 cycle of mammography and MRI surveillance, 23 patients (31%) completed 2 cycles, 18 patients (25%) completed 3 cycles, and patients 11 (15%) completed ≥ 4 cycles. The median follow-up was 2 years (range, 1-6 years). Thirteen cancers were detected among 11 women (15%). The mean tumor size was 14 mm (range, 1-30 mm), and 2 patients had bilateral cancers. Twelve of 13 cancers were detected on an MRI but not on the screening mammography study that was obtained 6 months earlier. One cancer (a 1-mm focus of ductal carcinoma in situ) was an incidental finding in a prophylactic mastectomy specimen. One patient had ipsilateral axillary lymphadenopathy identified on ultrasonography but had no evidence of lymph node involvement after neoadjuvant chemotherapy and surgery., Conclusions: In women who were at genetically high risk of developing breast cancer, MRI detected cancers that were not identified on mammography 6 months earlier. Future prospective studies are needed to evaluate the benefits of this screening regimen., (Cancer 2011 © 2011 American Cancer Society.)

Purpose: Mutations in the BRCA1 and BRCA2 genes confer greater risk of developing breast cancer. We determined whether tumor pathologic features and clinical features differ in patients with and without BRCA mutations., Patients and Methods: Tumor pathologic features and clinical characteristics were examined in 491 women with breast cancer who underwent genetic testing for BRCA mutations between 1997 and 2006. A retrospective review of medical records was conducted to determine clinical characteristics including ethnicity, age and clinical stage at diagnosis, age at parity, number of full-term pregnancies, use of oral contraceptives and hormone replacement therapy, and BRCA mutation status. Tumor pathology was reviewed to determine histologic type, tumor grade, and estrogen receptor, progesterone receptor, and HER-2/neu status., Results: Of the 491 patients with identified breast cancers, 391 patients were BRCA negative, and 86 patients were BRCA positive. Triple-negative breast cancer (ie, those with negative estrogen receptor, progesterone receptor, and HER-2/neu status) was diagnosed in 57.1% of the BRCA1-positive patients, 23.3% of the BRCA2-positive patients, and 13.8% of the BRCA-negative patients. BRCA1 mutation carriers had higher nuclear grade tumors than the other two groups (P < .001). Of the triple-negative cancer patients, BRCA2 mutation carriers were older when diagnosed than BRCA1 mutation carriers and noncarriers (P < .01)., Conclusion: These results suggest that tumors associated with BRCA1 mutations may be divided into two distinct groups, triple-negative and non-triple-negative groups. Future studies should seek to determine whether patients with BRCA1 mutations and triple-negative breast cancer respond to treatment better than BRCA-negative patients with similar tumor pathology.

Purpose: The BRCAPRO model, used to predict a family's likelihood of carrying a BRCA1 or BRCA2 mutation, was designed using mutation frequencies of white and Ashkenazi Jewish populations, and may not be applicable to other populations. BRCAPRO was recently validated in African Americans, although has yet to be examined in Hispanics. This retrospective study reports the mutation frequency and spectrum of BRCA1 and BRCA2 mutations in a Hispanic population and evaluates the BRCAPRO model in Hispanics., Patients and Methods: A descriptive analysis of mutation frequency and spectrum was performed for Hispanic patients who underwent BRCA1 and BRCA2 genetic testing at a single institution. For comparative analysis of the BRCAPRO risk model, Hispanic patients who underwent comprehensive analysis were compared with white controls using area under the receiver operating characteristic curves (AUROC)., Results: Fourteen Hispanic individuals who underwent comprehensive analysis were identified to carry a mutation in BRCA1 or BRCA2 (17.9%; 95% CI, 10.2% to 28.3%) and seven individuals had a variant of uncertain significance (9.0%; 95% CI, 12.0% to 30.8%). A total of eight different mutations and three variants were observed within the entire Hispanic population. When evaluating the performance of the BRCAPRO model, the AUROC for Hispanics was 0.774 (95% CI, 0.63 to 0.90), compared with the AUROC of 0.770 (95% CI, 0.65 to 0.89) for whites., Conclusion: Deleterious BRCA1 and BRCA2 mutations occur at considerable frequency within the Hispanic population, many of which have been identified previously in other ethnic populations. The BRCAPRO model appears to perform equally well in Hispanics as in whites.