Comparison of breast magnetic resonance imaging, mammography, and ultrasound for surveillance of women at high risk for hereditary breast cancer.

PURPOSE: Recommended surveillance for BRCA1 and BRCA2 mutation carriers includes regular mammography and clinical breast examination, although the effectiveness of these screening techniques in mutation carriers has not been established. The purpose of the present study was to compare breast magnetic resonance imaging (MRI) with ultrasound, mammography, and physical examination in women at high risk for hereditary breast cancer. PATIENTS AND METHODS: A total of 196 women, aged 26 to 59 years, with proven BRCA1 or BRCA2 mutations or strong family histories of breast or ovarian cancer underwent mammography, ultrasound, MRI, and clinical breast examination on a single day. A biopsy was performed when any of the four investigations was judged to be suspicious for malignancy. RESULTS: Six invasive breast cancers and one noninvasive breast cancer were detected among the 196 high-risk women. Five of the invasive cancers occurred in mutation carriers, and the sixth occurred in a woman with a previous history of breast cancer. The prevalence of invasive or noninvasive breast cancer in the 96 mutation carriers was 6.2%. All six invasive cancers were detected by MRI, all were 1.0 cm or less in diameter, and all were node-negative. In contrast, only three invasive cancers were detected by ultrasound, two by mammography, and two by physical examination. The addition of MRI to the more commonly available triad of mammography, ultrasound, and breast examination identified two additional invasive breast cancers that would otherwise have been missed. CONCLUSION: Breast MRI may be superior to mammography and ultrasound for the screening of women at high risk for hereditary breast cancer.

Psychosocial issues following a positive result of genetic testing for BRCA1 and BRCA2 mutations: findings from a focus group and a needs-assessment survey.

BACKGROUND: About 5% of cases of breast cancer and 10% of cases of ovarian cancer are due to an inherited predisposition. Since 1994 it has been possible to test some people at high risk for inherited mutations to the BRCA1 and BRCA2 genes. The purpose of our study was to explore how genetic testing had affected people found to have a BRCA mutation and their families, and to determine whether there was interest in a peer-support group. METHODS: All people given positive results of genetic testing for BRCA1 and BRCA2 mutations at either of 2 familial breast cancer clinics were invited to participate in a focus group and complete a questionnaire. Those who did not attend or who received positive results after the focus group were mailed the questionnaire. Information was sought on the effect of testing on cancer risk perception and worry about cancer, communication of test results to family members, attitudes toward surveillance and toward prevention options, satisfaction with clinical services, need for additional support and satisfaction with decision to undergo testing. RESULTS: Eight of the 27 people invited to participate in the focus group attended. Sixteen of the 26 who were mailed the questionnaire completed and returned it. Although cancer risk perception and worry increased after receipt of the test results, the participants did not regret their decision to undergo testing. Confidence in the efficacy of cancer surveillance was high. Prophylactic oophorectomy was much more acceptable than prophylactic mastectomy. Almost all (92% [22/24]) were satisfied with the clinical services they had received; however, all were dissatisfied with the lengthy wait for test results. Nine (38%) of the participants felt they would benefit from a support group. INTERPRETATION: Adequate resources must be made available to clinical programs providing BRCA1 and BRCA2 mutation testing to ensure appropriate pretest counselling and timely availability of results. Organization of support groups for people found to have the gene mutations should be a priority for these programs.