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Radiology. 2008 Jan;246(1):58-70.

Mammographic, US, and MR imaging phenotypes of familial breast cancer.

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Department of Radiology, University of Bonn, Sigmund-Freud-Strasse 25, 53105 Bonn, Germany.



To prospectively investigate the imaging (mammographic, ultrasonographic [US], magnetic resonance [MR] imaging) features of invasive and intraductal breast cancers in women at familial risk.


Ethics committee approval and informed consent were obtained. Breast cancers were identified in women at moderately increased risk, in women at high familial risk, and in documented BRCA1 and BRCA2 mutation carriers. All cancers were investigated with mammography, US, and bilateral dynamic breast MR imaging. Imaging findings of breast cancer in women in the different risk categories were prospectively collected and compared. With the two-sample Wilcoxon signed rank test, imaging features of cancers were compared.


Seventy-six breast cancers were identified in 68 women (mean age, 41.3 years). Mammographic breast density had no influence on detectability of cancers. Imaging phenotypes differed among risk categories: 15 (23%) of 64 invasive cancers appeared as fibroadenoma-like masses without calcifications but without fibroadenoma-like internal enhancement or enhancement kinetics at breast MR imaging. Of those, 12 (80%) occurred in women at high risk and documented BRCA1 mutation carriers. A posterior (immediately prepectoral) location was observed in 67% (32 of 48) of all breast cancers in women at high risk and mutation carriers (P < .009). None of the remaining BRCA1-associated invasive cancers exhibited calcifications; intraductal cancers were not observed. In 28 cancers in BRCA2 carriers or women at moderately increased risk, imaging features seemed equivalent to those reported for sporadic cancers; cases of ductal carcinoma in situ were observed, and there was no preference for a posterior location in the breast. At MR imaging, a high percentage (20% [13 of 64]) of invasive cancers appeared as non-masslike enhancement; benign kinetic features were observed in 33% (25 of 76).


Imaging phenotypes of cancers differ among risk categories. If MR imaging is used for screening, high sensitivity rates are achievable only if morphologic and kinetic features are assessed and if non-masslike enhancement is considered. Lesion location is important in regard to malignancy.


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