title: High-risk screening: multi-modality surveillance of women at high risk for breast cancer (proven or suspected carriers of a breast cancer susceptibility gene).
abstract: Familial breast cancer accounts for about 10% of all breast cancer cases. Subjects with mutations in one of the breast cancer susceptibility genes face an about 90% lifetime risk to develop breast cancer. In addition, more than half of the patients will develop breast cancer already before the age of 50, and a significant number even before the age of 35. Screening for familial breast cancer needs to start, therefore, at the age of 30. Detection and differential diagnosis of breast cancer in such a young patient cohort is difficult to achieve with mammography. Our experience with a multi-modality screening program tailored to the needs of these specific high-risk individuals are reviewed in this article. Our data suggest that the prospective use of breast MR imaging offers a substantial increase in tumor detection rates compared to the combined use of two-view mammography and state-of-the-art breast US. Interestingly, the considerable improvement in diagnostic sensitivity as offered by breast MRI was not traded off by a reduced specificity. On the contrary, MRI helped avoid many unnecessary biopsies that have been caused by false-positive high-frequency breast ultrasound findings.
authors.affiliation: Rheinische Friedrich-Willhelms Universität, Radiologische Universitätsklinik, Universitätsklinikum Bonn, Germany.
authors.forename: C K
authors.initials: CK
authors.lastname: Kuhl
mesh_terms: D001943:Breast Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000517:prevention & control*; D005189:False Positive Reactions; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D008279:Magnetic Resonance Imaging; D008327:Mammography; D008403:Mass Screening; D009154:Mutation; D012680:Sensitivity and Specificity; D016217:Ultrasonography, Mammary